Introduce Structural Variant and Phenotype
NOTE: Reference Genome Coordinates required in GRCh37/hg19
Please, visit any of the following websites to convert your coordinates to hg19 if you need it: UCSC LiftOver, ENSEMBL Assembly Converter, Broad Institute LiftOver
Upload Multiple Structural Variants with Phenotypes
NOTE: Reference Genome Coordinates required in GRCh37/hg19
Please, visit any of the following websites to convert your coordinates to hg19 if you need it: UCSC LiftOver, ENSEMBL Assembly Converter, Broad Institute LiftOver
Three different tables and a submission box are provided, as a result of a Multiple SV Submission, in the Multiple SVs Results page (same format in Explore Previous SVs page).
A tutorial video showing how to perform and interpret results for a Multiple SV Submission analysis is provided in the following video.
- Table1 (Results per SV and phenotype): This table provides a pathogenic prediction for each of the SVs and associated phenotypes analyzed. It presents different columns:
- SV ID: Identifier of the SV as provided in the file uploaded to POSTRE.
- Phenotype: Phenotype associated with the SV considered for pathogenic evaluation.
- Pathogenic Score: Pathogenic score (0-1) computed for the SV-phenotype association. It corresponds with the maximum pathogenic score computed for all the candidate genes.
- Pathogenic: It indicates whether the SV-phenotype association is predicted pathogenic (Yes) or not (No).
- Causative genes: List of genes predicted as disease causative. This cell will be empty if pathogenicity is not predicted.
- Candidate genes (Pathogenic Score): List of candidate genes (gene whose regulatory domain (TAD) or sequence (e.g gene deletion) is altered by a SV). A candidate gene is not necessarily involved in the disease etiology (i.e. candidate genes include both causative and non-causative genes). For each candidate gene, the maximum pathogenic score (0-1) computed along all cell types considered is provided in brackets.
- Table2 (Results per gene and phenotype): This table is an aggregation of the pathogenic predictions per gene, phenotype and pathogenic mechanism (coding, long-range). It presents different columns:
- Gene: Name of the gene.
- Phenotype: Phenotype associated with the gene where pathogenicity has been predicted.
- N SVs: Number of SVs where pathogenicity has been predicted (either by coding or long-range pathogenic mechanisms).
- N SVs Long-Range: Number of SVs where pathogenicity has been predicted through a long-range (enhancer mediated) pathogenic event.
- N SVs Coding: Number of SVs where pathogenicity has been predicted through a coding mechanism (e.g. gene deletion).
- SV IDs: Identifier of the SVs where pathogenicity has been predicted (either by coding or long-range pathogenic mechanisms).
- Long-Range SV IDs: Identifier of the SVs where pathogenicity has been predicted through long-range (enhancer mediated) pathological mechanisms.
- Coding SV IDs: Identifier of the SVs where pathogenicity has been predicted through coding (e.g. gene deletion) pathological mechanisms.
- Table3 (SVs information): Information (genomic coordinates, type and associated phenotypes) of the SVs uploaded to POSTRE.
- Submit SV for prediction: Introduce the SV ID for the SV of interest to generate the results (e.g. graphical abstracts, explanatory reports) as provided through a Single SV Submission.
A tutorial video showing how to perform and interpret results for a Multiple SV Submission analysis is provided in the following video.
Download Table here
| SV ID | Phenotype | Pathogenic Score | Pathogenic | Causative genes | Candidate genes (Pathogenic Score) |
|---|---|---|---|---|---|
| DGAP003 | head_neck | 0.99 | Yes | KCNJ2 | KCNJ2(0.99),ABCA5(0.67),MAP2K6(0.57),CACNA2D3(0.33),KCNJ16(0.33),LRTM1(0.25),SELENOK(0) |
| DGAP011 | head_neck | 0.83 | Yes | FGFR1 | FGFR1(0.83),DDHD2(0.75),ASH2L(0.63),LSM1(0.62),BAG4(0.5),EIF4EBP1(0.5),TNS3(0.5),BRF2(0.5),RAB11FIP1(0.49),TACC1(0.4),ADRB3(0.33),GOT1L1(0.33),LETM2(0.33),STAR(0.33),C7orf65(0.33),ADGRA2(0),NSD3(0),PLPP5(0) |
| DGAP012 | head_neck | 0.83 | Yes | PHF21A,STXBP2,MCOLN1,INSR | PHF21A(0.83),STXBP2(0.83),MCOLN1(0.81),INSR(0.81),CREB3L1(0.76),MAPK8IP1(0.75),PET100(0.75),PEX16(0.75),PNPLA6(0.75),ELAVL1(0.66),DGKZ(0.63),XAB2(0.63),MAP2K7(0.62),EVI5L(0.62),ARHGEF18(0.61),ZNF358(0.61),CRY2(0.58),CAMSAP3(0.52),CERS4(0.5),CTXN1(0.5),FBN3(0.5),SNAPC2(0.5),TIMM44(0.5),TRAPPC5(0.5),CLEC4G(0.5),TGFBR3L(0.48),PEX11G(0.35),C11orf94(0.33),CCL25(0.33),CD209(0.33),CLEC4M(0.33),FCER2(0.33),LRRC8E(0.33),PCP2(0.33),RETN(0.33),LARGE2(0),MCEMP1(0),PRR36(0),TEX45(0) |
| DGAP069 | head_neck | 0.88 | Yes | FBLN5,NKX3-2 | FBLN5(0.88),NKX3-2(0.83),TRIP11(0.77),CCDC88C(0.66),SLC24A4(0.63),ATXN3(0.5),CPSF2(0.5),NDUFB1(0.5),RIN3(0.5),RAB28(0.45),TC2N(0.39),CATSPERB(0.25),PPP4R3A(0) |
| DGAP100 | head_neck | 0.88 | Yes | NSD1,KDM6A | NSD1(0.88),KDM6A(0.83),B4GALT7(0.75),FAF2(0.75),NHP2(0.75),DBN1(0.75),F12(0.64),UNC5A(0.63),FAM193B(0.62),PDLIM7(0.61),PRELID1(0.61),FGFR4(0.58),CLTB(0.5),DDX41(0.5),GRK6(0.5),HIGD2A(0.5),KIAA1191(0.5),LMAN2(0.5),MXD3(0.5),NDP(0.5),NOP16(0.5),PRR7(0.5),RAB24(0.5),RGS14(0.5),RMND5B(0.5),RNF44(0.5),SIMC1(0.5),TMED9(0.5),TSPAN17(0.5),UIMC1(0.5),ZNF346(0.5),ARL10(0.5),EFHC2(0.49),SNCB(0.42),GPRIN1(0.4),EIF4E1B(0.38),PFN3(0.38),DUSP21(0.33),FUNDC1(0.33),N4BP3(0.32),DOK3(0.31),CDHR2(0.25),FAM153A(0.25),FAM153B(0.25),HK3(0.25),PROP1(0.25),SLC34A1(0.25) |
| DGAP105 | head_neck | 0.83 | Yes | AHDC1,MATR3,HSPA9 | AHDC1(0.83),MATR3(0.83),HSPA9(0.81),CTNNA1(0.67),SIL1(0.67),WDTC1(0.63),WASF2(0.62),SLC9A1(0.62),IFI6(0.5),PAIP2(0.5),TMEM222(0.5),SYTL1(0.4),MAP3K6(0.36),TRNP1(0.35),CD164L2(0.33),FCN3(0.33),GPR3(0.33),LRRTM2(0.33),FGR(0.25),SLC23A1(0.25),KDF1(0),TENT5B(0) |
| DGAP108 | head_neck | 0.88 | Yes | DKC1,FLNA,MECP2,IKBKG,FAM50A,RPL10 | DKC1(0.88),FLNA(0.88),MECP2(0.88),IKBKG(0.88),FAM50A(0.87),RPL10(0.86),EMD(0.75),LAGE3(0.75),MPP1(0.74),RAB39B(0.71),GDI1(0.62),IRAK1(0.62),G6PD(0.62),TAZ(0.62),PLXNA3(0.62),BRCC3(0.5),FUNDC2(0.5),VBP1(0.5),MTCP1(0.5),ATP6AP1(0.5),FAM3A(0.5),UBL4A(0.5),TKTL1(0.5),GAB3(0.5),OPN1LW(0.49),CMC4(0.48),TMLHE(0.43),SLC10A3(0.41),DNASE1L1(0.34),CDR1(0.33),LDOC1(0.33),MAGEC1(0.33),MAGEC2(0.33),MAGEC3(0.33),SPANXA1(0.33),SPANXA2(0.33),SPANXB1(0.33),SPANXD(0.33),SLITRK4(0.33),CTAG1A(0.33),CTAG1B(0.33),CTAG2(0.33),OPN1MW(0.33),SPANXN2(0.33),SPANXN3(0.33),F8A1(0.29),F8A3(0.29),F8A2(0.28),CLIC2(0.25),F8(0.19),H2AB1(0),H2AB2(0),H2AB3(0),LOC645188(0),OPN1MW2(0),SMIM9(0),SPANXN4(0) |
| DGAP131 | head_neck | 0.88 | Yes | MEF2C | MEF2C(0.88),CETN3(0.62),C1orf52(0.5),DDAH1(0.5),COL24A1(0.39),LYSMD3(0.36),ZNHIT6(0.33),POLR3G(0.33),BCL10(0.33),MBLAC2(0.33),ADGRV1(0),CCN1(0) |
| DGAP151 | head_neck | 0.82 | Yes | SUMO1 | SUMO1(0.82),ALS2(0.67),LY6H(0.63),FZD7(0.5),LY6E(0.5),PTP4A3(0.5),GLI4(0.5),JRK(0.5),LY6D(0.5),LYNX1(0.5),TSNARE1(0.48),THEM6(0.47),ARC(0.38),ZFP41(0.38),CDK15(0.33),MPP4(0.33),CYP11B1(0.33),CYP11B2(0.33),GPIHBP1(0.33),LY6K(0.33),LYPD2(0.33),PSCA(0.33),SLURP1(0.33),ADGRB1(0),GML(0),KIAA2012(0),LY6L(0),LYNX1-SLURP2(0),SLURP2(0) |
| DGAP152 | head_neck | 1 | Yes | PTCH1 | PTCH1(1),ERCC6L2(0.75),FANCC(0.75),ACTN4(0.65),FAM98C(0.63),RYR1(0.56),SLC35D2(0.5),HNRNPL(0.5),CDC14B(0.49),HABP4(0.49),MAP4K1(0.48),NFKBIB(0.48),CAPN12(0.33),ECH1(0.33),EIF3K(0.33),FBXO17(0.33),LGALS4(0.33),LGALS7(0.33),LGALS7B(0.33),MRPS12(0.33),RINL(0.33),SARS2(0.33),SIRT2(0.33),SPRED3(0.33),RASGRP4(0.33),ZNF367(0.32),HSD17B3(0.25),CCER2(0),PRXL2C(0) |
| DGAP153 | head_neck | 0.83 | Yes | KDM6A | KDM6A(0.83),USP22(0.62),DHRS7B(0.5),MAP2K3(0.5),NDP(0.5),TMEM11(0.5),EFHC2(0.49),FUNDC1(0.45),DUSP21(0.33),CDRT15L2(0.25),LGALS9B(0.25),NATD1(0) |
| DGAP155 | head_neck | 1 | Yes | CACNA1B,EHMT1 | CACNA1B(1),EHMT1(0.83),AMBRA1(0.63),ATG13(0.37),ZMYND19(0.36),ARRDC1(0.25),DPH7(0.25),MRPL41(0.25),HARBI1(0.07),PNPLA7(0) |
| DGAP157 | head_neck | 1 | Yes | FOXP1 | FOXP1(1),CDK1(0.62),ANK3(0.5),MDFIC2(0) |
| DGAP163 | head_neck | 0.88 | Yes | SOS1 | SOS1(0.88),HECTD1(0.75),SCFD1(0.62),ARHGAP5(0.62),STRN3(0.61),AP4S1(0.61),MAP4K3(0.53),AKAP6(0.5),DHX57(0.5),MORN2(0.5),DTD2(0.46),COCH(0.44),TMEM178A(0.43),NUBPL(0.37),HEATR5A(0.36),CDKL4(0.33),ARHGEF33(0.33),GPR33(0) |
| DGAP176 | head_neck | 0.88 | Yes | ACSL4 | ACSL4(0.88),COL4A6(0.75),POU3F4(0.67),COL4A5(0.63),IRS4(0.53),NXT2(0.44),CYLC1(0.33),HMGN5(0.33),SH3BGRL(0.33),GUCY2F(0.25),KCNE5(0) |
| DGAP179 | head_neck | 0.87 | Yes | KIDINS220,ADAM17 | KIDINS220(0.87),ADAM17(0.82),ITGB1BP1(0.73),ASAP2(0.63),YWHAQ(0.62),CPSF3(0.62),ID2(0.62),MBOAT2(0.62),SLITRK1(0.5),KLF11(0.5),GRHL1(0.5),TAF1B(0.37),IAH1(0.33) |
| DGAP199 | head_neck | 1 | Yes | TBX15,RBM8A,NOTCH2,PHGDH | TBX15(1),RBM8A(0.87),NOTCH2(0.83),PHGDH(0.83),POLR3GL(0.75),PEX11B(0.63),PIAS3(0.63),PDE4DIP(0.63),LIX1L(0.63),HMGCS2(0.5),NBPF10(0.5),NBPF9(0.5),SEC22B(0.5),TXNIP(0.5),WARS2(0.5),ZNF697(0.5),FAM72D(0.5),HAO2(0.49),HSD3B1(0.49),SPAG17(0.49),REG4(0.49),ANKRD34A(0.37),HSD3B2(0.33),NBPF7(0.33),PPIAL4A(0.33),ANKRD35(0.32),ITGA10(0.32),NUDT17(0.3),ADAM30(0),HJV(0),NOTCH2NLA(0),PPIAL4H(0) |
| DGAP201 | head_neck | 1 | Yes | AUTS2,NCAPG2 | AUTS2(1),NCAPG2(0.87),VIPR2(0.54),ESYT2(0.5),PTPRN2(0.49),DYNC2I1(0) |
| DGAP202 | head_neck | 0.83 | Yes | KDM6A | KDM6A(0.83),KLHL13(0.33),SLC6A14(0.12),AGTR2(0),CT83(0) |
| DGAP220 | head_neck | 0.87 | Yes | DHCR24,F13A1 | DHCR24(0.87),F13A1(0.84),PARS2(0.68),SSBP3(0.67),HSPB11(0.63),LRRC42(0.5),MRPL37(0.5),NRN1(0.5),TMEM59(0.5),TTC4(0.5),YIPF1(0.5),CYB5RL(0.38),TCEANC2(0.37),LY86(0.33),ACOT11(0.27),TTC22(0.26),CDCP2(0.25),DIO1(0.25),FAM151A(0.25),LDLRAD1(0.25),MROH7(0.25),LEXM(0) |
| DGAP222 | head_neck | 0.88 | Yes | SCP2,MEF2C | SCP2(0.88),MEF2C(0.88),ORC1(0.75),CPT2(0.75),PRPF38A(0.63),ECHDC2(0.63),CETN3(0.62),ZYG11B(0.52),GPX7(0.5),PODN(0.47),LYSMD3(0.36),MBLAC2(0.33),POLR3G(0.33),SLC1A7(0.25),ZYG11A(0.25),ADGRV1(0),COA7(0),SHISAL2A(0),TUT4(0) |
| DGAP223 | head_neck | 0.88 | Yes | DICER1,GSC | DICER1(0.88),GSC(0.83),ZBTB1(0.62),CHURC1(0.5),DDX24(0.5),IFI27L1(0.5),IFI27L2(0.5),MTHFD1(0.5),PLEKHG3(0.5),RAB15(0.5),SYNE2(0.5),HSPA2(0.5),PPP4R4(0.44),CHURC1-FNTB(0.43),ZBTB25(0.4),SERPINA11(0.38),SPTB(0.38),CLMN(0.38),IFI27(0.37),AKAP5(0.33),GPX2(0.33),PPP1R36(0.33),SERPINA3(0.33),SERPINA5(0.33),OTUB2(0.28),SERPINA1(0.25),SERPINA10(0.25),SERPINA12(0.25),SERPINA4(0.25),SERPINA6(0.25),SERPINA9(0.25),ESR2(0.17) |
| DGAP244 | head_neck | 1 | Yes | ZIC1 | ZIC1(1),CTNND2(0.67),AGTR1(0.67),DNAH5(0.67),ZIC4(0.52),ANKRD33B(0.5),CMBL(0.5),DAP(0.5),ROPN1L(0.5),CPA3(0.33),CPB1(0.33),MARCHF6(0) |
| DGAP245 | head_neck | 1 | Yes | FOXG1,MLH1 | FOXG1(1),MLH1(0.88),EPM2AIP1(0.34),TRANK1(0.08) |
| DGAP252 | head_neck | 0.99 | Yes | GATA6 | GATA6(0.99),GREB1L(0.75),MIB1(0.63),ROCK1(0.63),SNRPD1(0.61),ESCO1(0.54),ALCAM(0.47),ABHD3(0.33),CTAGE1(0.33) |
| DGAP278 | head_neck | 0.81 | Yes | SNRPN | SNRPN(0.81),EMX2(0.67),NDN(0.67),MAGEL2(0.67),MKRN3(0.67),NPAP1(0.67),CACUL1(0.56),FAM204A(0.5),SLC18A2(0.5),PDZD8(0.48),RAB11FIP2(0.47),PRLHR(0.38),NANOS1(0.34),SNURF(0.33),GOLGA6L2(0.33),GOLGA8S(0.33),LOC102723623(0) |
| DGAP287 | head_neck | 0.88 | Yes | DICER1,GSC | DICER1(0.88),GSC(0.83),DDX24(0.5),IFI27L1(0.5),IFI27L2(0.5),CELF2(0.49),PPP4R4(0.44),CLMN(0.39),SERPINA11(0.38),USP6NL(0.37),IFI27(0.37),ECHDC3(0.33),SERPINA5(0.3),OTUB2(0.28),SERPINA1(0.25),SERPINA10(0.25),SERPINA12(0.25),SERPINA3(0.25),SERPINA4(0.25),SERPINA6(0.25),SERPINA9(0.25) |
| DGAP288 | head_neck | 1 | Yes | SOX9 | SOX9(1),MARCKS(0.63),LAMA4(0.5),RFPL4B(0.33) |
| DGAP292 | head_neck | 1 | Yes | TBX15,FGF9,NOTCH2,PHGDH | TBX15(1),FGF9(0.9),NOTCH2(0.88),PHGDH(0.83),MICU2(0.5),SEC22B(0.5),WARS2(0.5),ZNF697(0.5),HMGCS2(0.5),HAO2(0.49),HSD3B1(0.49),SPAG17(0.49),REG4(0.49),HSD3B2(0.33),NBPF7(0.33),SGCG(0.31),ADAM30(0) |
| DGAP301 | head_neck | 0.83 | Yes | MEF2C | MEF2C(0.83),ADAMTS17(0.66),ASB7(0.47),CETN3(0.37),CERS3(0.36),LYSMD3(0.33),MBLAC2(0.33),POLR3G(0.33),ADGRV1(0),LINS1(0) |
| DGAP302 | head_neck | 0.88 | Yes | EFNB1,CLCN4 | EFNB1(0.88),CLCN4(0.83),PJA1(0.61) |
| DGAP315 | head_neck | 1 | Yes | TFAP2A | TFAP2A(1),EEF1E1(0.61),MTRNR2L9(0.5),SLC35B3(0.41),PHF3(0.38),PTP4A1(0.36),KHDRBS2(0.33),LGSN(0.33) |
| MGH9 | head_neck | 0.83 | Yes | TCF4 | TCF4(0.83),TXNL1(0.62),WDR7(0.45) |
| ROC17 | head_neck | 1 | Yes | AUTS2 | AUTS2(1),IGFBP3(0.75),ADCY1(0.66),IGFBP1(0.5) |
| ROC24 | head_neck | 1 | Yes | COL12A1 | COL12A1(1),SLC17A5(0.59),CD109(0.26) |
| ROC34 | head_neck | 0.8 | Yes | LMX1B | LMX1B(0.8),PBX3(0.75),HSPA5(0.74),CTSV(0.67),GAPVD1(0.63),MAPKAP1(0.63),NCBP1(0.63),PPP6C(0.62),RABEPK(0.5),TDRD7(0.5),TMOD1(0.5),TSTD2(0.5),MVB12B(0.49),SCAI(0.47),GOLGA1(0.41),CCDC180(0.33),NUTM2G(0.33),ZNF782(0.33),MFSD14C(0) |
| ROC37 | head_neck | 1 | Yes | TFAP2B | TFAP2B(1),IGF2R(0.75),PKHD1(0.67),WTAP(0.63),TCP1(0.62),ACAT2(0.5),MRPL18(0.5),SOD2(0.5),LPA(0.33),IL17A(0.33),IL17F(0.33),MAS1(0.33),PNLDC1(0.33),SLC22A1(0.33),SLC22A2(0.33),SLC22A3(0.33),TFAP2D(0) |
| NIJ1 | head_neck | 1 | Yes | FOXG1 | FOXG1(1),STMN2(0.65),IL7(0.63),ZC2HC1A(0.5) |
| NIJ6 | head_neck | 0.87 | Yes | CAMK2G,KAT6B | CAMK2G(0.87),KAT6B(0.83),ADK(0.75),PLAU(0.75),VCL(0.75),KLHL29(0.65),VDAC2(0.61),AP3M1(0.5),NDST2(0.5),SAMD8(0.38),COMTD1(0.37),DUSP13(0.33),DUSP29(0) |
| NIJ9 | head_neck | 0.83 | Yes | PRKAR1A | PRKAR1A(0.83),FBXO7(0.75),PISD(0.75),FAM20A(0.67),DEPDC5(0.63),YWHAH(0.61),TIMP3(0.61),PRR14L(0.6),BPIFC(0.5),RTCB(0.5),ABCA5(0.38),ABCA10(0.33),ABCA6(0.33),ABCA8(0.33),ABCA9(0.33),AMZ2(0.33),ARSG(0.33),RFPL3(0.33),SLC16A6(0.33),SYN3(0.33),WIPI1(0.33),C22orf24(0.29),C22orf42(0.25),RFPL2(0.25),SLC5A1(0.25),SLC5A4(0.25) |
| NIJ12 | head_neck | 1 | Yes | SATB2 | SATB2(1),C2orf49(0.5),FTCDNL1(0.5),NCK2(0.5),TGFBRAP1(0.44),FHL2(0.33) |
| NIJ14 | head_neck | 1 | Yes | NFIA | NFIA(1),PRKACB(0.67),GNG5(0.5),MCOLN2(0.5),MCOLN3(0.5),TM2D1(0.5),CTBS(0.33),DNASE2B(0.33),LPAR3(0.33),RPF1(0.33),SAMD13(0.33),SPATA1(0.33),SSX2IP(0.33),SYDE2(0.33),TTLL7(0.04),DNAI3(0),PATJ(0) |
| NIJ16 | head_neck | 0.87 | Yes | RPS7,TRAPPC12 | RPS7(0.87),TRAPPC12(0.87),BUB3(0.75),ACADSB(0.72),COLEC11(0.67),RNASEH1(0.62),LHPP(0.61),ADI1(0.5),CHST15(0.5),CPXM2(0.5),NKX1-2(0.5),OAT(0.5),HMX3(0.49),IKZF5(0.43),GPR26(0.38),HMX2(0.38),ALLC(0.33),MYT1L(0.33),EIPR1(0) |
| NIJ18 | head_neck | 0.81 | Yes | PTPN14 | PTPN14(0.81),CENPF(0.75),IGFBP7(0.67),PROX1(0.67),POLR2B(0.62),FLVCR1(0.57),ANGEL2(0.5),ATF3(0.5),NSL1(0.5),SMYD2(0.5),TATDN3(0.5),NOA1(0.5),VASH2(0.5),RPS6KC1(0.49),BATF3(0.33),FAM71A(0.33),SPATA45(0) |
| UTR4 | head_neck | 1 | Yes | TWIST1 | TWIST1(1) |
| UTR5 | head_neck | 1 | Yes | POU3F3 | POU3F3(1),NIPAL4(0.67),EBF1(0.66),CLINT1(0.62),MRPS9(0.5),THG1L(0.5),ADAM19(0.5),SOX30(0.38),LSM11(0.34),C5orf52(0.33),FNDC9(0.33) |
| UTR7 | head_neck | 1 | Yes | NFIX | NFIX(1),NACC1(0.63),PRKACA(0.63),CCNG1(0.61),TRMT1(0.5),CC2D1A(0.5),GABRB2(0.49),DAND5(0.38),DCAF15(0.38),ASF1B(0.37),RFX1(0.37),PKN1(0.36),DDX39A(0.36),SAMD1(0.36),CACNA1A(0.31),C19orf53(0.25),CCDC130(0.25),IER2(0.25),PTTG1(0.25),SLU7(0.25),STX10(0.25),ZSWIM4(0.25),GABRA1(0.25),MRI1(0.25),NANOS3(0.23),LYL1(0.16),PODNL1(0.15),PALM3(0.13),GABRG2(0.12),IL27RA(0.08),ADGRE5(0),ADGRL1(0),ATP10B(0),BRME1(0),C19orf67(0),GABRA6(0),MISP3(0),RLN3(0) |
| UTR8 | head_neck | 1 | Yes | SOX9 | SOX9(1),PFKP(0.61),ADARB2(0.5) |
| UTR10 | head_neck | 0.87 | Yes | MDH1,UGP2 | MDH1(0.87),UGP2(0.87),WDPCP(0.67),CELF2(0.49),USP6NL(0.37),ECHDC3(0.33) |
| UTR12 | head_neck | 0.99 | Yes | KCNJ6,DYRK1A | KCNJ6(0.99),DYRK1A(0.83),PIGP(0.75),ACTN4(0.67),RYR1(0.67),RIPPLY3(0.63),FAM98C(0.63),HNRNPL(0.62),MAP4K1(0.61),TTC3(0.61),EIF3K(0.5),HLCS(0.5),NFKBIB(0.5),ECH1(0.5),FBXO17(0.5),MRPS12(0.5),SARS2(0.5),SIRT2(0.5),CAPN12(0.35),SPRED3(0.33),RASGRP4(0.33),RINL(0.33),KCNJ15(0.33),LGALS4(0.33),LGALS7(0.33),LGALS7B(0.33),CCER2(0),VPS26C(0) |
| UTR21 | head_neck | 0.83 | Yes | NSD1,F12 | NSD1(0.83),F12(0.83),B4GALT7(0.75),FAF2(0.75),NHP2(0.75),DBN1(0.75),UNC5A(0.66),TRIM24(0.63),CREB3L2(0.63),FAM193B(0.62),PDLIM7(0.61),PRELID1(0.61),FGFR4(0.58),TTC26(0.57),KIAA1549(0.54),UBN2(0.54),CLTB(0.5),DDX41(0.5),EIF4E1B(0.5),GRK6(0.5),HIGD2A(0.5),KIAA1191(0.5),LMAN2(0.5),LUC7L2(0.5),MXD3(0.5),NOP16(0.5),PRR7(0.5),RAB24(0.5),RGS14(0.5),RMND5B(0.5),RNF44(0.5),SIMC1(0.5),SNCB(0.5),TMED9(0.5),TSPAN17(0.5),UIMC1(0.5),ZC3HAV1(0.5),ZNF346(0.5),DGKI(0.5),PFN3(0.5),ARL10(0.5),GPRIN1(0.4),ATP6V0A4(0.33),CDHR2(0.33),FAM153B(0.33),HK3(0.33),SVOPL(0.33),TMEM213(0.33),ZC3HAV1L(0.33),N4BP3(0.33),DOK3(0.33),FAM153A(0.33),PROP1(0.33),SLC34A1(0.33),AKR1D1(0),FMC1(0),FMC1-LUC7L2(0) |
| U102 | head_neck | 0.83 | Yes | POLR2A,TP53 | POLR2A(0.83),TP53(0.83),CHRNB1(0.79),MPDU1(0.67),SLC13A5(0.63),DLG4(0.5),EIF4A1(0.5),FGF11(0.5),FXR2(0.5),NEURL4(0.5),SENP3(0.5),NLGN2(0.5),PHF23(0.5),CTDNEP1(0.5),ZBTB4(0.5),DVL2(0.49),EIF5A(0.48),YBX2(0.43),FBXO39(0.38),TEKT1(0.38),XAF1(0.38),ACADVL(0.33),ATP1B2(0.33),C17orf49(0.33),EFNB3(0.33),ELP5(0.33),GABARAP(0.33),GPS2(0.33),PLSCR3(0.33),RNASEK(0.33),SAT2(0.33),TMEM256(0.33),WRAP53(0.33),ASGR1(0.33),TNFSF12(0.31),CLDN7(0.28),TNFSF13(0.24),CD68(0.24),ACAP1(0.21),TNK1(0.2),TMEM102(0.17),DNAH2(0.17),SLC16A11(0.17),TNFSF12-TNFSF13(0.17),BCL6B(0.1),SLC16A13(0.08),KCTD11(0.07),SLC2A4(0.06),SOX15(0.06),SHBG(0.02),ALOX12(0),ASGR2(0),CLEC10A(0),LOC100996842(0),SLC35G6(0),SPEM1(0),SPEM2(0),SPEM3(0),TMEM95(0) |
| U114 | head_neck | 0.86 | Yes | NOTCH3,FCHO1,SLC5A5 | NOTCH3(0.86),FCHO1(0.86),SLC5A5(0.83),BRD4(0.75),TECR(0.75),WIZ(0.75),SLC1A6(0.74),JAK3(0.67),KLF2(0.67),UNC13A(0.66),COLGALT1(0.63),AKAP8(0.62),RAB8A(0.62),RPL18A(0.62),SSBP4(0.62),SYDE1(0.62),RAB3A(0.51),AKAP8L(0.5),AP1M1(0.5),B3GNT3(0.5),BST2(0.5),CCDC105(0.5),CCDC124(0.5),CHERP(0.5),CPAMD8(0.5),DNAJB1(0.5),FAM32A(0.5),GDF15(0.5),ILVBL(0.5),ISYNA1(0.5),JUND(0.5),LSM4(0.5),MAP1S(0.5),MPV17L2(0.5),MVB12A(0.5),MYO9B(0.5),NDUFB7(0.5),PGLS(0.5),RASAL3(0.5),TPM4(0.5),MAST3(0.5),SIN3B(0.5),EPS15L1(0.5),ANO8(0.5),ZNF333(0.5),SLC27A1(0.49),DDA1(0.48),LRRC25(0.37),PGPEP1(0.34),ARRDC2(0.33),BABAM1(0.33),CASP14(0.33),CIB3(0.33),CLEC17A(0.33),CYP4F11(0.33),CYP4F12(0.33),CYP4F2(0.33),CYP4F22(0.33),CYP4F3(0.33),CYP4F8(0.33),EPHX3(0.33),GTPBP3(0.33),HAUS8(0.33),HSH2D(0.33),IFI30(0.33),IL12RB1(0.33),INSL3(0.33),MRPL34(0.33),NR2F6(0.33),NXNL1(0.33),OR10H1(0.33),OR10H2(0.33),OR7A17(0.33),OR7A5(0.33),OR7C1(0.33),PDE4C(0.33),PGLYRP2(0.33),SLC35E1(0.33),SMIM7(0.33),TMEM221(0.33),USE1(0.33),C19orf44(0.33),PLVAP(0.33),OCEL1(0.31),MED26(0.3),ABHD8(0.25),ANKLE1(0.06),TMEM38A(0.03),ADGRE2(0),ADGRE3(0),CALR3(0),CLEC4O(0),F2RL3(0),IQCN(0),KCNN1(0),NIBAN3(0),NWD1(0),OR10H3(0),OR10H4(0),OR10H5(0),OR1I1(0),OR7A10(0),OR7C2(0),PIK3R2(0),USHBP1(0) |
| U116 | head_neck | 0.88 | Yes | PPP2R1A,ETFB | PPP2R1A(0.88),ETFB(0.86),POLD1(0.75),PRKCG(0.71),ATF5(0.63),CACNG7(0.63),KLK4(0.63),LRRC4B(0.63),PRPF31(0.62),NR1H2(0.62),ZNF83(0.62),ZNF320(0.61),ZNF432(0.6),SHANK1(0.57),ZNF813(0.55),ZNF28(0.53),C19orf48(0.5),C19orf81(0.5),EMC10(0.5),IGLON5(0.5),KLK15(0.5),MYADM(0.5),NDUFA3(0.5),NLRP12(0.5),NUP62(0.5),TFPT(0.5),VRK3(0.5),ZNF160(0.5),ZNF528(0.5),ZNF577(0.5),ZNF649(0.5),ZNF677(0.5),ZNF880(0.5),ZNF331(0.5),ZNF616(0.5),SIGLEC6(0.5),KLK1(0.49),HAS1(0.49),ZNF615(0.48),ZNF473(0.48),ZNF415(0.46),ZNF610(0.45),ZNF480(0.45),ZNF175(0.44),LIM2(0.43),KCNC3(0.42),ZNF611(0.42),SYT3(0.42),ZNF614(0.41),ZNF613(0.41),MYH14(0.41),ZNF816(0.41),CACNG8(0.4),KLK10(0.4),CLDND2(0.39),CLEC11A(0.39),CACNG6(0.38),ZNF766(0.38),ZNF761(0.38),JOSD2(0.38),VSIG10L(0.38),KLK11(0.38),KLK13(0.38),KLK2(0.38),KLK3(0.38),KLK7(0.38),KLK9(0.38),NKG7(0.37),SIGLEC8(0.37),SIGLEC12(0.37),SIGLEC14(0.37),ZNF525(0.37),ZNF845(0.35),ZNF347(0.34),ZNF468(0.33),FAM71E1(0.33),ZNF578(0.32),ZNF350(0.32),ZNF665(0.32),ZNF765(0.31),ZNF816-ZNF321P(0.3),ZNF701(0.29),CTU1(0.29),ZNF841(0.28),ZNF836(0.28),ZNF808(0.27),SPIB(0.27),MYBPC2(0.26),KLK8(0.26),ZNF600(0.26),ASPDH(0.25),CD33(0.25),DPRX(0.25),ERVV-1(0.25),ERVV-2(0.25),FPR1(0.25),FPR2(0.25),FPR3(0.25),GPR32(0.25),IL4I1(0.25),IZUMO2(0.25),KLK12(0.25),KLK14(0.25),KLK5(0.25),KLK6(0.25),NAPSA(0.25),SIGLEC10(0.25),SIGLEC11(0.25),SIGLEC16(0.25),SIGLEC5(0.25),SIGLEC7(0.25),SIGLEC9(0.25),SIGLECL1(0.25),TARM1(0.25),VN1R2(0.25),VN1R4(0.25),VSTM1(0.25),ZNF534(0.25),OSCAR(0),ACP4(0),C19orf84(0),CEACAM18(0),LOC105372440(0),SPACA6(0),ZNF765-ZNF761(0),ZNF888(0) |
| U12.1 | head_neck | 0.99 | Yes | KCNN3,ADAR | KCNN3(0.99),ADAR(0.86),PYGO2(0.74),GATAD2B(0.72),TPM3(0.67),EFNA3(0.63),UBE2Q1(0.62),EFNA1(0.52),ADAM15(0.5),ATP8B2(0.5),C1orf43(0.5),CHTOP(0.5),CRTC2(0.5),DPM3(0.5),EFNA4(0.5),FLAD1(0.5),INTS3(0.5),KRTCAP2(0.5),PBXIP1(0.5),PMVK(0.5),SHC1(0.5),SLC39A1(0.5),SLC50A1(0.5),UBAP2L(0.5),ILF2(0.5),DENND4B(0.5),SHE(0.5),TDRD10(0.5),NPR1(0.49),TRIM46(0.49),ZBTB7B(0.36),CREB3L4(0.33),HAX1(0.33),IL6R(0.33),JTB(0.33),RAB13(0.33),RPS27(0.33),S100A1(0.33),S100A13(0.33),SLC27A3(0.33),SNAPIN(0.33),CHRNB2(0.33),DCST1(0.33),DCST2(0.33),LENEP(0.33),CKS1B(0.33),AQP10(0),C1orf189(0),LOC101928120(0),NUP210L(0) |
| U126 | head_neck | 0.99 | Yes | SCARF2,TBX1,DGCR8,GP1BB | SCARF2(0.99),TBX1(0.97),DGCR8(0.83),GP1BB(0.83),TANGO2(0.73),CDC45(0.67),DGCR2(0.67),DGCR6(0.67),HIRA(0.67),LZTR1(0.67),PI4KA(0.67),SLC25A1(0.67),SNAP29(0.67),CRKL(0.66),ARVCF(0.5),RANBP1(0.5),ZDHHC8(0.5),MED15(0.49),PRODH(0.44),C22orf39(0.33),COMT(0.33),DGCR6L(0.33),GNB1L(0.33),KLHL22(0.33),MRPL40(0.33),THAP7(0.33),TRMT2A(0.33),ZNF74(0.33),RTN4R(0.33),CLDN5(0.3),GGT2(0.25),CLTCL1(0.25),AIFM3(0.18),GSC2(0.17),TXNRD2(0.15),P2RX6(0.05),CCDC188(0),ESS2(0),GGTLC3(0),LRRC74B(0),RIMBP3(0),RTL10(0),SEPTIN5(0),SERPIND1(0),SLC7A4(0),TMEM191B(0),TSSK2(0),UFD1(0) |
| U128 | head_neck | 0.99 | Yes | SCARF2,TBX1,DGCR8,GP1BB | SCARF2(0.99),TBX1(0.97),DGCR8(0.83),GP1BB(0.83),TANGO2(0.73),CDC45(0.67),DGCR2(0.67),DGCR6(0.67),HIRA(0.67),LZTR1(0.67),PI4KA(0.67),SLC25A1(0.67),SNAP29(0.67),CRKL(0.66),ARVCF(0.5),RANBP1(0.5),ZDHHC8(0.5),MED15(0.49),PRODH(0.44),C22orf39(0.33),COMT(0.33),DGCR6L(0.33),GNB1L(0.33),KLHL22(0.33),MRPL40(0.33),THAP7(0.33),TRMT2A(0.33),ZNF74(0.33),RTN4R(0.33),CLDN5(0.3),GGT2(0.25),CLTCL1(0.25),AIFM3(0.18),GSC2(0.17),TXNRD2(0.15),P2RX6(0.05),CCDC188(0),ESS2(0),GGTLC3(0),LRRC74B(0),RIMBP3(0),RTL10(0),SEPTIN5(0),SERPIND1(0),SLC7A4(0),TMEM191B(0),TSSK2(0),UFD1(0) |
| U129 | head_neck | 0.88 | Yes | SCARF2,DGCR8,GP1BB,TBX1 | SCARF2(0.88),DGCR8(0.83),GP1BB(0.83),TBX1(0.8),LZTR1(0.75),PI4KA(0.75),CRKL(0.74),TANGO2(0.73),SNAP29(0.73),CDC45(0.67),DGCR2(0.67),DGCR6(0.67),SLC25A1(0.67),HIRA(0.67),RANBP1(0.66),MED15(0.62),AIFM3(0.5),ARVCF(0.5),KLHL22(0.5),THAP7(0.5),ZNF74(0.5),PRODH(0.44),C22orf39(0.33),COMT(0.33),DGCR6L(0.33),GGTLC3(0.33),GNB1L(0.33),MRPL40(0.33),P2RX6(0.33),RIMBP3(0.33),SERPIND1(0.33),SLC7A4(0.33),TRMT2A(0.33),ZDHHC8(0.33),RTN4R(0.33),CLDN5(0.3),CLTCL1(0.25),GSC2(0.17),TXNRD2(0.15),CCDC188(0),ESS2(0),GGT2(0),LRRC74B(0),RTL10(0),SEPTIN5(0),TMEM191B(0),TSSK2(0),UFD1(0) |
| U13 | head_neck | 0.83 | Yes | AKT3,HNRNPU,COX20 | AKT3(0.83),HNRNPU(0.83),COX20(0.82),ZBTB18(0.68),KIF26B(0.67),SDCCAG8(0.66),AHCTF1(0.5),CEP170(0.5),ZNF496(0.5),DESI2(0.5),ZNF692(0.48),CNST(0.36),OPN3(0.36),EFCAB2(0.33),EXO1(0.33),NLRP3(0.33),SCCPDH(0.33),SH3BP5L(0.33),SMYD3(0.33),TFB2M(0.33),ZNF669(0.33),ZNF670(0.33),ZNF672(0.33),ZNF695(0.33),PLD5(0.27),ZNF124(0.24),CHML(0.16),PGBD2(0.16),MAP1LC3C(0.06),TRIM58(0.01),ADSS2(0),BECN2(0),C1orf100(0),CATSPERE(0),GCSAML(0),LYPD8(0),OR11L1(0),OR13G1(0),OR14A16(0),OR14A2(0),OR14C36(0),OR14I1(0),OR14K1(0),OR1C1(0),OR2AJ1(0),OR2AK2(0),OR2B11(0),OR2C3(0),OR2G2(0),OR2G3(0),OR2G6(0),OR2L13(0),OR2L2(0),OR2L3(0),OR2L5(0),OR2L8(0),OR2M2(0),OR2M3(0),OR2M4(0),OR2M5(0),OR2M7(0),OR2T1(0),OR2T10(0),OR2T11(0),OR2T12(0),OR2T2(0),OR2T27(0),OR2T29(0),OR2T3(0),OR2T33(0),OR2T34(0),OR2T35(0),OR2T4(0),OR2T5(0),OR2T6(0),OR2T7(0),OR2T8(0),OR2W3(0),OR6F1(0),WDR64(0) |
| U132 | head_neck | 0.99 | Yes | SCARF2,TBX1,DGCR8,GP1BB | SCARF2(0.99),TBX1(0.97),DGCR8(0.83),GP1BB(0.83),TANGO2(0.73),CDC45(0.67),DGCR2(0.67),DGCR6(0.67),HIRA(0.67),LZTR1(0.67),PI4KA(0.67),SLC25A1(0.67),SNAP29(0.67),CRKL(0.66),ARVCF(0.5),RANBP1(0.5),ZDHHC8(0.5),MED15(0.49),PRODH(0.44),C22orf39(0.33),COMT(0.33),DGCR6L(0.33),GNB1L(0.33),KLHL22(0.33),MRPL40(0.33),THAP7(0.33),TRMT2A(0.33),ZNF74(0.33),RTN4R(0.33),CLDN5(0.3),GGT2(0.25),CLTCL1(0.25),AIFM3(0.18),GSC2(0.17),TXNRD2(0.15),P2RX6(0.05),CCDC188(0),ESS2(0),GGTLC3(0),LRRC74B(0),RIMBP3(0),RTL10(0),SEPTIN5(0),SERPIND1(0),SLC7A4(0),TMEM191B(0),TSSK2(0),UFD1(0) |
| U133 | head_neck | 0.83 | Yes | DGCR8,SCARF2,GP1BB,TBX1 | DGCR8(0.83),SCARF2(0.83),GP1BB(0.83),TBX1(0.8),TANGO2(0.73),CDC45(0.67),DGCR2(0.67),DGCR6(0.67),LZTR1(0.67),PI4KA(0.67),SLC25A1(0.67),SNAP29(0.67),HIRA(0.67),CRKL(0.66),RANBP1(0.66),ARVCF(0.5),MED15(0.5),HIC2(0.49),PRODH(0.44),UBE2L3(0.38),PPIL2(0.36),C22orf39(0.33),COMT(0.33),DGCR6L(0.33),GNB1L(0.33),KLHL22(0.33),MRPL40(0.33),THAP7(0.33),TRMT2A(0.33),ZDHHC8(0.33),ZNF74(0.33),RTN4R(0.33),CLDN5(0.3),SDF2L1(0.25),YDJC(0.25),CLTCL1(0.25),AIFM3(0.18),GSC2(0.17),TXNRD2(0.15),P2RX6(0.05),CCDC116(0),CCDC188(0),ESS2(0),GGT2(0),GGTLC3(0),LRRC74B(0),RIMBP3(0),RIMBP3B(0),RIMBP3C(0),RTL10(0),SEPTIN5(0),SERPIND1(0),SLC7A4(0),TMEM191B(0),TMEM191C(0),TSSK2(0),UFD1(0) |
| U137 | head_neck | 0.83 | Yes | MAPK1 | MAPK1(0.83),BCR(0.63),PPM1F(0.49),HIC2(0.49),GNAZ(0.45),IGLL5(0.38),RAB36(0.36),PPIL2(0.33),RIMBP3B(0.33),SDF2L1(0.33),TOP3B(0.33),UBE2L3(0.33),YDJC(0.33),YPEL1(0.33),GGTLC2(0.25),IGLL1(0.25),VPREB1(0.17),ZNF280B(0.02),CCDC116(0),PRAME(0),RIMBP3C(0),RSPH14(0),TMEM191C(0),ZNF280A(0) |
| U139 | head_neck | 0.82 | Yes | SBF1 | SBF1(0.82),SHANK3(0.72),ALG12(0.67),CHKB(0.67),TUBGCP6(0.67),FBLN1(0.66),PHF21B(0.66),MLC1(0.61),CELSR1(0.59),WNT7B(0.54),GRAMD4(0.5),RABL2B(0.5),SAMM50(0.5),BRD1(0.5),PLXNB2(0.5),ZBED4(0.5),PRR5(0.5),TBC1D22A(0.49),NCAPH2(0.49),NUP50(0.49),PIM3(0.49),TRABD(0.49),CPT1B(0.49),PPARA(0.49),PPP6R2(0.48),MAPK8IP2(0.43),PARVB(0.4),ODF3B(0.35),ATXN10(0.33),CERK(0.33),CRELD2(0.33),FAM118A(0.33),GTSE1(0.33),KIAA0930(0.33),LMF2(0.33),MAPK12(0.33),SCO2(0.33),TRMU(0.33),TTC38(0.33),ARSA(0.33),HDAC10(0.33),CDPF1(0.32),TYMP(0.32),DENND6B(0.29),C22orf34(0.17),IL17REL(0.17),PKDREJ(0.17),SMC1B(0.17),SYCE3(0.15),MAPK11(0.13),ARHGAP8(0.07),ADM2(0.06),RIBC2(0.03),ACR(0),KLHDC7B(0),MIOX(0),MOV10L1(0),PANX2(0),PARVG(0),PRR5-ARHGAP8(0),RTL6(0),SELENOO(0),SHISAL1(0),TAFA5(0),TTLL8(0),UPK3A(0) |
| U16 | head_neck | 0.99 | Yes | BCL11A | BCL11A(0.99),PEX13(0.67),OTX1(0.53),FANCL(0.5),XPO1(0.5),USP34(0.49),WDPCP(0.46),B3GNT2(0.46),C2orf74(0.33),CCT4(0.33),COMMD1(0.33),EHBP1(0.33),KIAA1841(0.33),FAM161A(0.3),PAPOLG(0.26),VRK2(0.25),PUS10(0.1),TMEM17(0.06),REL(0.02) |
| U20 | head_neck | 1 | Yes | SATB2 | SATB2(1),BZW1(0.62),SPATS2L(0.5),AOX1(0.17),FTCDNL1(0.17),C2orf69(0.14),KCTD18(0.14),TYW5(0.1),MAIP1(0),SGO2(0) |
| U24 | head_neck | 0.83 | Yes | MCIDAS | MCIDAS(0.83),IL6ST(0.79),CCNO(0.67),PLK2(0.63),MIER3(0.5),GPBP1(0.5),MAP3K1(0.34),ACTBL2(0.33),SETD9(0.33),SLC38A9(0.33),DHX29(0.33),DDX4(0.17),IL31RA(0.17),ANKRD55(0),LOC105378979(0),MTREX(0),PLPP1(0) |
| U30 | head_neck | 0.83 | Yes | ELN | ELN(0.83),BAZ1B(0.67),GTF2I(0.67),GTF2IRD1(0.67),EIF4H(0.65),MLXIPL(0.54),CLIP2(0.5),GTF2IRD2B(0.5),NSUN5(0.5),LIMK1(0.5),GTF2IRD2(0.5),NCF1(0.37),ABHD11(0.33),BCL7B(0.33),RFC2(0.33),TBL2(0.33),VPS37D(0.33),CLDN4(0.33),STX1A(0.31),CLDN3(0.25),DNAJC30(0.14),FKBP6(0.06),FZD9(0.05),LAT2(0.01),BUD23(0),CASTOR2(0),METTL27(0),RCC1L(0),SPDYE10P(0),SPDYE12P(0),TMEM270(0),TRIM50(0) |
| U37 | head_neck | 0.87 | Yes | OSR2 | OSR2(0.87),STK3(0.63),VPS13B(0.46),NIPAL2(0.32),KCNS2(0.25) |
| U39 | head_neck | 0.83 | Yes | PLEC | PLEC(0.83),FOXH1(0.67),GPAA1(0.67),RECQL4(0.67),SLC52A2(0.67),TONSL(0.67),PUF60(0.63),FAM83H(0.61),SHARPIN(0.5),RPL8(0.5),SCRIB(0.5),ZNF517(0.49),ZNF34(0.49),SLC39A4(0.47),ZC3H3(0.37),C8orf33(0.37),ARHGAP39(0.33),BOP1(0.33),C8orf82(0.33),COMMD5(0.33),CPSF1(0.33),CYC1(0.33),CYHR1(0.33),DGAT1(0.33),EXOSC4(0.33),GRINA(0.33),HSF1(0.33),LRRC14(0.33),MAF1(0.33),MFSD3(0.33),PPP1R16A(0.33),VPS28(0.33),ZNF250(0.33),ZNF251(0.33),ZNF7(0.33),FBXL6(0.33),ZNF696(0.28),EEF1D(0.25),TOP1MT(0.25),ZNF623(0.25),RHPN1(0.25),NRBP2(0.25),GSDMD(0.25),ZNF16(0.24),MAPK15(0.23),KIFC2(0.2),OPLAH(0.19),ADCK5(0.18),MROH1(0.18),ZNF707(0.17),SCRT1(0.17),MAFA(0.13),TIGD5(0.09),PARP10(0.09),LRRC24(0.09),MROH6(0.07),CCDC166(0),EPPK1(0),GFUS(0),GPT(0),HGH1(0),IQANK1(0),NAPRT(0),PYCR3(0),SCX(0),SPATC1(0),TMEM249(0),WDR97(0) |
| U43 | head_neck | 1 | Yes | PTCH1 | PTCH1(1),ERCC6L2(0.75),BARX1(0.67),FANCC(0.67),FAM120A(0.5),NINJ1(0.5),SLC35D2(0.5),PHF2(0.5),CDC14B(0.49),ZNF367(0.49),HABP4(0.49),WNK2(0.47),FAM120AOS(0.33),HSD17B3(0.33),PTPDC1(0.14),ZNF169(0.06),NUTM2F(0.03),AOPEP(0),FBP1(0),FBP2(0),MFSD14B(0),PRXL2C(0) |
| U45 | head_neck | 1 | Yes | COL27A1 | COL27A1(1),CDK5RAP2(0.67),TRIM32(0.66),GSN(0.63),RAB14(0.62),ASTN2(0.61),PHF19(0.5),PRPF4(0.5),STOM(0.5),TNC(0.5),ZNF618(0.5),FBXW2(0.5),PTBP3(0.5),MEGF9(0.4),SNX30(0.36),ZFP37(0.34),AKNA(0.33),ALAD(0.33),ATP6V1G1(0.33),CDC26(0.33),HSDL2(0.33),INIP(0.33),POLE3(0.33),PSMD5(0.33),RGS3(0.33),SLC31A1(0.33),PAPPA(0.33),SUSD1(0.33),HDHD3(0.33),TNFSF8(0.31),FKBP15(0.28),KIAA1958(0.26),CNTRL(0.25),BSPRY(0.17),TLR4(0.1),TRAF1(0.08),C5(0.06),WDR31(0.05),SLC31A2(0.04),C9orf147(0.01),ORM2(0),AMBP(0),B3GALT9(0),BRINP1(0),C9orf43(0),KIF12(0),ORM1(0),RNF183(0),SLC46A2(0),TEX48(0),TEX53(0),TMEM268(0),TNFSF15(0),WHRN(0),ZNF883(0) |
| U50 | head_neck | 0.83 | Yes | KMT2D | KMT2D(0.83),TUBA1A(0.63),WNT10B(0.58),PRKAG1(0.5),TUBA1B(0.5),ARF3(0.5),WNT1(0.48),DDX23(0.38),TROAP(0.38),MCRS1(0.37),SPATS2(0.37),LMBR1L(0.33),DHH(0.32),DDN(0.31),RND1(0.28),CCDC65(0.26),CACNB3(0.25),KCNH3(0.25),TUBA1C(0.25),FKBP11(0.25),PRPH(0.17),RHEBL1(0.14),C1QL4(0.13),DNAJC22(0.13),FAM186B(0) |
| U51 | head_neck | 0.83 | Yes | MED13L | MED13L(0.83),RNFT2(0.37),FBXW8(0.25),TESC(0.25),MAP1LC3B2(0.25),HRK(0.13),SPRING1(0) |
| U65 | head_neck | 0.83 | Yes | HERC2,UBE3A,GABRB3 | HERC2(0.83),UBE3A(0.82),GABRB3(0.81),MAGEL2(0.67),MKRN3(0.67),NDN(0.67),NPAP1(0.67),OCA2(0.67),SNRPN(0.67),GABRA5(0.5),SNURF(0.33),GABRG3(0.18),ATP10A(0.17),GOLGA6L2(0),GOLGA8F(0),GOLGA8G(0),GOLGA8S(0),LOC100132202(0),LOC102723623(0),LOC645202(0) |
| U75 | head_neck | 1 | Yes | MEIS2,SPRED1 | MEIS2(1),SPRED1(0.83),AQR(0.5),GJD2(0.5),ACTC1(0.39),DPH6(0.33),FAM98B(0.33),ZNF770(0.33),RASGRP1(0.15),CDIN1(0),NANOGP8(0),TMCO5A(0) |
| U76 | head_neck | 0.83 | Yes | IGF1R,CHSY1 | IGF1R(0.83),CHSY1(0.83),ALDH1A3(0.75),SNRPA1(0.5),LRRK1(0.5),MEF2A(0.5),ARRDC4(0.49),LRRC28(0.49),TTC23(0.48),PCSK6(0.38),ADAMTS17(0.35),TM2D3(0.33),ASB7(0.29),LYSMD4(0.19),SYNM(0.16),CERS3(0.15),FAM169B(0),LINS1(0),OR4F15(0),OR4F4(0),OR4F6(0),PGPEP1L(0),SELENOS(0),TARS3(0) |
| U89 | head_neck | 0.88 | Yes | SRCAP | SRCAP(0.88),FBXL19(0.75),ALDOA(0.67),KIF22(0.67),PRRT2(0.67),RNF40(0.63),FBRS(0.62),TBC1D10B(0.62),ZNF629(0.62),MYLPF(0.53),BCL7C(0.5),BOLA2(0.5),BOLA2B(0.5),CD2BP2(0.5),DCTPP1(0.5),PHKG2(0.5),PRR14(0.5),SEPHS2(0.5),SLX1A(0.5),SLX1B(0.5),TAOK2(0.5),ZNF48(0.5),ZNF768(0.5),MAPK3(0.5),ZNF771(0.5),SULT1A3(0.5),ZNF688(0.5),SULT1A4(0.5),CORO1A(0.49),MAZ(0.49),ZNF689(0.46),ZNF785(0.46),ZNF764(0.45),ZNF747(0.4),CTF1(0.38),CDIPT(0.33),HIRIP3(0.33),INO80E(0.33),PAGR1(0.33),PPP4C(0.33),QPRT(0.33),SEZ6L2(0.33),TBX6(0.33),TMEM219(0.33),YPEL3(0.33),GDPD3(0.27),KCTD13(0.26),ITGAL(0.25),C16orf92(0.17),ASPHD1(0.1),MVP(0.1),DOC2A(0.05),BOLA2-SMG1P6(0),C16orf54(0),CCDC189(0),LOC112694756(0),LOC730183(0),NPIPB11(0),NPIPB12(0),NPIPB13(0),SEPTIN1(0),SPN(0),TLCD3B(0),TMEM265(0),ZG16(0) |
| U92 | head_neck | 0.88 | Yes | SRCAP | SRCAP(0.88),ALDOA(0.75),FBXL19(0.75),KIF22(0.75),PRRT2(0.75),TAOK2(0.63),PPP4C(0.62),RNF40(0.62),TBC1D10B(0.62),MAPK3(0.62),ZNF629(0.62),FBRS(0.61),PHKG2(0.61),MYLPF(0.53),BCL7C(0.5),BOLA2(0.5),BOLA2B(0.5),CD2BP2(0.5),CDIPT(0.5),CORO1A(0.5),DCTPP1(0.5),HIRIP3(0.5),INO80E(0.5),MAZ(0.5),PAGR1(0.5),PRR14(0.5),QPRT(0.5),SEPHS2(0.5),SEZ6L2(0.5),SLX1A(0.5),SLX1B(0.5),TBX6(0.5),TMEM219(0.5),YPEL3(0.5),ZNF48(0.5),ZNF768(0.5),ZNF771(0.5),SULT1A3(0.5),ZNF688(0.5),SULT1A4(0.5),ZNF689(0.46),ZNF785(0.46),ZNF764(0.45),KCTD13(0.45),GDPD3(0.45),ZNF747(0.4),C16orf92(0.38),CTF1(0.38),ASPHD1(0.33),MVP(0.32),DOC2A(0.29),C16orf54(0.25),ITGAL(0.25),SPN(0.25),ZG16(0.25),BOLA2-SMG1P6(0),CCDC189(0),LOC112694756(0),LOC730183(0),NPIPB11(0),NPIPB12(0),NPIPB13(0),SEPTIN1(0),TLCD3B(0),TMEM265(0) |
| U96 | head_neck | 0.88 | Yes | TUBB3,FOXF1,MBTPS1,GAS8 | TUBB3(0.88),FOXF1(0.83),MBTPS1(0.81),GAS8(0.81),ANKRD11(0.75),CDK10(0.75),CHMP1A(0.75),FANCA(0.75),PLCG2(0.68),CDT1(0.67),COX4I1(0.67),CTU2(0.67),FBXO31(0.67),TRAPPC2L(0.67),PIEZO1(0.67),GALNS(0.66),DNAAF1(0.61),FOXC2(0.58),IRF8(0.52),DBNDD1(0.5),DEF8(0.5),RPL13(0.5),SPATA33(0.5),SPG7(0.5),TCF25(0.5),ZNF276(0.5),ZCCHC14(0.5),MC1R(0.5),PRDM7(0.5),VPS9D1(0.5),CRISPLD2(0.5),HSDL1(0.49),CPNE7(0.49),SPIRE2(0.45),ZNF778(0.41),JPH3(0.4),ZNF469(0.39),FOXL1(0.39),SPATA2L(0.38),ACSF3(0.33),APRT(0.33),BANP(0.33),COTL1(0.33),CYBA(0.33),EMC8(0.33),GINS2(0.33),GSE1(0.33),HSBP1(0.33),KLHDC4(0.33),MAP1LC3B(0.33),MPHOSPH6(0.33),MVD(0.33),NECAB2(0.33),RNF166(0.33),SLC7A5(0.33),TAF1C(0.33),USP10(0.33),ZC3H18(0.33),ZDHHC7(0.33),DPEP1(0.33),MTHFSD(0.33),CENPBD1(0.33),KLHL36(0.3),ZFPM1(0.3),CBFA2T3(0.27),C16orf74(0.27),CDH13(0.2),SLC22A31(0.18),ATP2C2(0.17),MLYCD(0.16),HSD17B2(0.16),C16orf95(0.14),WFDC1(0.14),KIAA0513(0.09),SDR42E1(0.07),ADAD2(0.01),CDH15(0.01),CA5A(0),CIBAR2(0),IL17C(0),KCNG4(0),MEAK7(0),OSGIN1(0),PABPN1L(0),SLC38A8(0),SNAI3(0) |
| U97 | head_neck | 0.88 | Yes | TUBB3,FOXF1,GAS8 | TUBB3(0.88),FOXF1(0.83),GAS8(0.81),ANKRD11(0.75),CDK10(0.75),CHMP1A(0.75),FANCA(0.75),CDT1(0.67),COX4I1(0.67),CTU2(0.67),FBXO31(0.67),TRAPPC2L(0.67),PIEZO1(0.67),GALNS(0.66),MBTPS1(0.61),FOXC2(0.58),IRF8(0.52),DBNDD1(0.5),DEF8(0.5),RPL13(0.5),SPATA33(0.5),SPG7(0.5),TCF25(0.5),ZNF276(0.5),ZCCHC14(0.5),MC1R(0.5),PRDM7(0.5),VPS9D1(0.5),CPNE7(0.49),CRISPLD2(0.48),SPIRE2(0.45),DNAAF1(0.45),ZNF778(0.41),JPH3(0.4),ZNF469(0.39),FOXL1(0.39),SPATA2L(0.38),USP10(0.37),HSDL1(0.37),KLHL36(0.34),ACSF3(0.33),APRT(0.33),BANP(0.33),CYBA(0.33),EMC8(0.33),GINS2(0.33),GSE1(0.33),KIAA0513(0.33),KLHDC4(0.33),MAP1LC3B(0.33),MVD(0.33),RNF166(0.33),SLC7A5(0.33),ZC3H18(0.33),ZDHHC7(0.33),DPEP1(0.33),MTHFSD(0.33),CENPBD1(0.33),ZFPM1(0.3),CBFA2T3(0.27),C16orf74(0.27),COTL1(0.25),HSBP1(0.25),MPHOSPH6(0.25),NECAB2(0.25),TAF1C(0.25),SLC22A31(0.18),CDH13(0.15),C16orf95(0.14),ATP2C2(0.13),MLYCD(0.12),HSD17B2(0.12),WFDC1(0.1),SDR42E1(0.06),CDH15(0.01),ADAD2(0),CA5A(0),CIBAR2(0),IL17C(0),KCNG4(0),MEAK7(0),OSGIN1(0),PABPN1L(0),SLC38A8(0),SNAI3(0) |
| DGAP105 | cardiovascular | 0.88 | Yes | KDM3B,HSPA9 | KDM3B(0.88),HSPA9(0.87),WASF2(0.75),CTNNA1(0.75),EGR1(0.75),NDUFA2(0.75),MATR3(0.67),KLHL3(0.67),MYOT(0.67),SLC9A1(0.66),PURA(0.65),WDTC1(0.63),CDC23(0.63),ETF1(0.63),PFDN1(0.63),UBE2D2(0.62),ZMAT2(0.62),HBEGF(0.62),STX12(0.61),REEP2(0.61),HNRNPA0(0.61),FAM13B(0.54),NRG2(0.53),AHDC1(0.5),CXXC5(0.5),LRRTM2(0.5),PAIP2(0.5),SPATA24(0.5),FGR(0.5),BRD8(0.5),FAM53C(0.5),KIF20A(0.5),NME5(0.5),CYSTM1(0.5),HARS2(0.5),IK(0.5),SLC35A4(0.5),SRA1(0.5),TMEM222(0.49),NUDC(0.49),CDC25C(0.45),APBB3(0.44),IFI6(0.41),PSD2(0.38),ECSCR(0.38),DNAJC18(0.38),PROB1(0.38),EIF4EBP3(0.38),ANKHD1(0.38),ANKHD1-EIF4EBP3(0.38),DND1(0.38),SIL1(0.36),WNT8A(0.36),TMCO6(0.34),WDR55(0.34),CD164L2(0.33),FCN3(0.33),GPR3(0.33),MAP3K6(0.33),SYTL1(0.33),TRNP1(0.33),FAM76A(0.33),GPN2(0.33),GPATCH3(0.33),NR0B2(0.33),GFRA3(0.33),PKD2L2(0.33),IGIP(0.32),MZB1(0.25),SLC23A1(0.25),CD14(0.25),SLC4A9(0.25),SMIM33(0),STING1(0),TENT5B(0),KDF1(0),HARS1(0) |
| DGAP155 | cardiovascular | 0.83 | Yes | CACNA1B,GRIN1 | CACNA1B(0.83),GRIN1(0.83),EHMT1(0.77),ATG13(0.75),TRAF2(0.74),RNF208(0.67),TMEM203(0.67),F2(0.67),MDK(0.63),PHF21A(0.63),FBXW5(0.63),NPDC1(0.63),ABCA2(0.63),TUBB4B(0.62),ANAPC2(0.62),RABL6(0.62),EDF1(0.61),ZMYND19(0.61),AMBRA1(0.6),DGKZ(0.55),ENTPD2(0.5),ENTPD8(0.5),LRRC26(0.5),NELFB(0.5),NRARP(0.5),TMEM210(0.5),SSNA1(0.5),NDOR1(0.5),RNF224(0.5),CHRM4(0.5),ARRDC1(0.5),DPH7(0.5),DPP7(0.5),MAN1B1(0.5),MRPL41(0.5),NSMF(0.5),PHPT1(0.5),PTGDS(0.5),TMEM141(0.5),CKAP5(0.5),ARHGAP1(0.5),TPRN(0.49),FAM166A(0.48),SLC34A3(0.48),CREB3L1(0.43),UAP1L1(0.42),NOXA1(0.41),MAMDC4(0.4),LCN12(0.38),ZNF408(0.38),FUT7(0.36),TOR4A(0.34),C8G(0.33),C9orf139(0.33),CLIC3(0.33),EXD3(0.33),LCN15(0.33),LCN8(0.33),LCNL1(0.33),PNPLA7(0.33),SAPCD2(0.33),HARBI1(0.33),C11orf49(0.33),LRP4(0.33),AJM1(0),CCDC183(0),CYSRT1(0),PAXX(0),STPG3(0) |
| DGAP274 | cardiovascular | 1 | Yes | TFAP2B,ADNP | TFAP2B(1),ADNP(0.88),DPM1(0.75),TFAP2D(0.65),PTPN1(0.61),SNAI1(0.56),CEBPB(0.5),RNF114(0.5),SPATA2(0.49),PARD6B(0.43),BCAS4(0.42),MOCS3(0.36),CRISP1(0.33),DEFB110(0.33),DEFB112(0.33),DEFB113(0.33),DEFB114(0.33),UBE2V1(0.33),PELATON(0),RIPOR3(0),PEDS1(0),PEDS1-UBE2V1(0) |
| ROC3 | cardiovascular | 0.83 | Yes | ZMIZ1 | ZMIZ1(0.83),POLR3A(0.75),PPIF(0.63),DLG5(0.63),RPS24(0.63),CDK1(0.62),SFTPA2(0.5),ZCCHC24(0.5),ANK3(0.41),EIF5AL1(0.25),NUTM2B(0.25),NUTM2E(0.25),SFTPA1(0.25) |
| NIJ9 | cardiovascular | 0.99 | Yes | KCNJ2 | KCNJ2(0.99),PATZ1(0.67),PRR14L(0.62),YWHAH(0.61),EIF4ENIF1(0.59),FBXO7(0.5),RTCB(0.5),BPIFC(0.5),SLC5A4(0.5),DRG1(0.49),PISD(0.44),DEPDC5(0.43),MAP2K6(0.39),ABCA10(0.33),ABCA6(0.33),ABCA8(0.33),ABCA9(0.33),SFI1(0.33),C22orf24(0.33),C22orf42(0.33),RFPL2(0.33),RFPL3(0.33),SLC5A1(0.33),KCNJ16(0.33),ABCA5(0.17) |
| NIJ18 | cardiovascular | 0.88 | Yes | PROX1 | PROX1(0.88),PTPN14(0.79),CENPF(0.75),IGFBP7(0.75),POLR2B(0.62),SMYD2(0.5),NOA1(0.5),RPS6KC1(0.44),ANGEL2(0.42) |
| UTR12 | cardiovascular | 0.83 | Yes | ACTN4 | ACTN4(0.83),DYRK1A(0.67),SARS2(0.67),RYR1(0.67),DPF1(0.66),MRPS12(0.63),PAK4(0.63),SAMD4B(0.63),SUPT5H(0.63),HNRNPL(0.62),PSMD8(0.62),PAF1(0.61),TTC3(0.61),ZFP36(0.6),RIPPLY3(0.58),NCCRP1(0.51),ECH1(0.5),EIF3K(0.5),IFNL1(0.5),IFNL2(0.5),IFNL3(0.5),MED29(0.5),PLEKHG2(0.5),RPS16(0.5),FAM98C(0.5),KCNK6(0.5),PPP1R14A(0.5),DLL3(0.5),TIMM50(0.5),NFKBIB(0.48),SYCN(0.48),MAP4K1(0.48),SIPA1L3(0.48),FBXO17(0.46),HLCS(0.43),SIRT2(0.42),LRFN1(0.38),CAPN12(0.33),FBXO27(0.33),GMFG(0.33),LGALS4(0.33),LGALS7(0.33),LGALS7B(0.33),RINL(0.33),RASGRP4(0.33),C19orf33(0.33),CATSPERG(0.33),GGN(0.33),SPINT2(0.33),SPRED3(0.33),WDR87(0.33),YIF1B(0.33),EID2(0.33),EID2B(0.33),PIGP(0.28),ACP7(0),CCER2(0),VPS26C(0),SELENOV(0) |
| UTR21 | cardiovascular | 0.83 | Yes | F12,NSD1 | F12(0.83),NSD1(0.83),KIAA1549(0.76),DBN1(0.75),DGKI(0.75),FAF2(0.75),PDLIM7(0.74),UNC5A(0.66),TRIM24(0.63),HIGD2A(0.63),FAM193B(0.62),UBN2(0.61),PRELID1(0.61),ZC3HAV1(0.59),CREB3L2(0.5),PFN3(0.5),RAB24(0.5),DDX41(0.5),LMAN2(0.5),TMED9(0.5),EIF4E1B(0.5),SNCB(0.5),ARL10(0.5),CLTB(0.5),KIAA1191(0.5),RNF44(0.5),GRK6(0.49),NOP16(0.46),TSPAN17(0.46),UIMC1(0.45),FGFR4(0.43),THOC3(0.41),ZNF346(0.4),B4GALT7(0.37),SIMC1(0.36),MXD3(0.34),RGS14(0.34),AKR1D1(0.33),DOK3(0.33),HK3(0.33),PRR7(0.33),SLC34A1(0.33),CDHR2(0.33),FAM153B(0.33),GPRIN1(0.33),TTC26(0.3),ATP6V0A4(0.25),LUC7L2(0.25),SVOPL(0.25),TMEM213(0.25),ZC3HAV1L(0.25),FMC1(0),FMC1-LUC7L2(0) |
| U111 | cardiovascular | 0.83 | Yes | TXNL4A | TXNL4A(0.83),NFATC1(0.57),TIMM21(0.57),NETO1(0.56),ZADH2(0.51),CNDP2(0.5),ZNF516(0.5),ADNP2(0.5),ZNF236(0.48),CYB5A(0.44),CTDP1(0.41),PARD6G(0.4),TSHZ1(0.39),FBXO15(0.37),SALL3(0.36),HSBP1L1(0.36),MBP(0.33),GALR1(0.33),KCNG2(0.33),RBFA(0.27),ATP9B(0.19),ZNF407(0.19),CNDP1(0.15),C18orf63(0.14),DIPK1C(0),SLC66A2(0),SMIM21(0) |
| U125 | cardiovascular | 0.99 | Yes | SCARF2,DGCR8 | SCARF2(0.99),DGCR8(0.8),DGCR2(0.67),DGCR6(0.67),USP18(0.67),TBX1(0.66),CRKL(0.66),HIC2(0.66),LZTR1(0.65),TANGO2(0.56),GP1BB(0.5),ZDHHC8(0.5),HIRA(0.5),ARVCF(0.5),MICAL3(0.5),PEX26(0.49),BID(0.49),TUBA8(0.49),CDC45(0.48),MED15(0.46),DGCR6L(0.33),GGT2(0.33),MRPL40(0.33),PI4KA(0.33),RANBP1(0.33),RIMBP3B(0.33),SERPIND1(0.33),SLC25A1(0.33),TMEM191C(0.33),SNAP29(0.33),THAP7(0.32),KLHL22(0.3),C22orf39(0.29),TRMT2A(0.27),ZNF74(0.24),PRODH(0.19),AIFM3(0.17),CLDN5(0.17),COMT(0.17),GSC2(0.17),TXNRD2(0.17),CLTCL1(0.08),P2RX6(0.03),CCDC188(0),ESS2(0),GGTLC3(0),GNB1L(0),LRRC74B(0),RIMBP3(0),RTL10(0),RTN4R(0),SEPTIN5(0),SLC7A4(0),TMEM191B(0),TSSK2(0),UFD1(0) |
| U128 | cardiovascular | 0.99 | Yes | SCARF2,DGCR8 | SCARF2(0.99),DGCR8(0.8),DGCR2(0.67),DGCR6(0.67),USP18(0.67),TBX1(0.66),CRKL(0.66),HIC2(0.66),LZTR1(0.65),TANGO2(0.56),GP1BB(0.5),ZDHHC8(0.5),HIRA(0.5),ARVCF(0.5),MICAL3(0.5),PEX26(0.49),BID(0.49),TUBA8(0.49),CDC45(0.48),MED15(0.46),DGCR6L(0.33),GGT2(0.33),MRPL40(0.33),PI4KA(0.33),RANBP1(0.33),RIMBP3B(0.33),SERPIND1(0.33),SLC25A1(0.33),TMEM191C(0.33),SNAP29(0.33),THAP7(0.32),KLHL22(0.3),C22orf39(0.29),TRMT2A(0.27),ZNF74(0.24),PRODH(0.19),AIFM3(0.17),CLDN5(0.17),COMT(0.17),GSC2(0.17),TXNRD2(0.17),CLTCL1(0.08),P2RX6(0.03),CCDC188(0),ESS2(0),GGTLC3(0),GNB1L(0),LRRC74B(0),RIMBP3(0),RTL10(0),RTN4R(0),SEPTIN5(0),SLC7A4(0),TMEM191B(0),TSSK2(0),UFD1(0) |
| U131 | cardiovascular | 0.99 | Yes | SCARF2,DGCR8 | SCARF2(0.99),DGCR8(0.8),DGCR2(0.67),DGCR6(0.67),USP18(0.67),TBX1(0.66),CRKL(0.66),HIC2(0.66),LZTR1(0.65),TANGO2(0.56),GP1BB(0.5),ZDHHC8(0.5),HIRA(0.5),ARVCF(0.5),MICAL3(0.5),PEX26(0.49),BID(0.49),TUBA8(0.49),CDC45(0.48),MED15(0.46),DGCR6L(0.33),GGT2(0.33),MRPL40(0.33),PI4KA(0.33),RANBP1(0.33),RIMBP3B(0.33),SERPIND1(0.33),SLC25A1(0.33),TMEM191C(0.33),SNAP29(0.33),THAP7(0.32),KLHL22(0.3),C22orf39(0.29),TRMT2A(0.27),ZNF74(0.24),PRODH(0.19),AIFM3(0.17),CLDN5(0.17),COMT(0.17),GSC2(0.17),TXNRD2(0.17),CLTCL1(0.08),P2RX6(0.03),CCDC188(0),ESS2(0),GGTLC3(0),GNB1L(0),LRRC74B(0),RIMBP3(0),RTL10(0),RTN4R(0),SEPTIN5(0),SLC7A4(0),TMEM191B(0),TSSK2(0),UFD1(0) |
| U132 | cardiovascular | 0.99 | Yes | SCARF2,DGCR8 | SCARF2(0.99),DGCR8(0.8),DGCR2(0.67),DGCR6(0.67),USP18(0.67),TBX1(0.66),CRKL(0.66),HIC2(0.66),LZTR1(0.65),TANGO2(0.56),GP1BB(0.5),ZDHHC8(0.5),HIRA(0.5),ARVCF(0.5),MICAL3(0.5),PEX26(0.49),BID(0.49),TUBA8(0.49),CDC45(0.48),MED15(0.46),DGCR6L(0.33),GGT2(0.33),MRPL40(0.33),PI4KA(0.33),RANBP1(0.33),RIMBP3B(0.33),SERPIND1(0.33),SLC25A1(0.33),TMEM191C(0.33),SNAP29(0.33),THAP7(0.32),KLHL22(0.3),C22orf39(0.29),TRMT2A(0.27),ZNF74(0.24),PRODH(0.19),AIFM3(0.17),CLDN5(0.17),COMT(0.17),GSC2(0.17),TXNRD2(0.17),CLTCL1(0.08),P2RX6(0.03),CCDC188(0),ESS2(0),GGTLC3(0),GNB1L(0),LRRC74B(0),RIMBP3(0),RTL10(0),RTN4R(0),SEPTIN5(0),SLC7A4(0),TMEM191B(0),TSSK2(0),UFD1(0) |
| U137 | cardiovascular | 0.88 | Yes | SMARCB1,MAPK1 | SMARCB1(0.88),MAPK1(0.83),HIC2(0.66),CHCHD10(0.63),MMP11(0.63),BCR(0.58),UBE2L3(0.5),RAB36(0.5),IGLL5(0.5),DDT(0.5),DDTL(0.5),GSTT1(0.5),MIF(0.5),PPM1F(0.49),GNAZ(0.48),DERL3(0.41),SLC2A11(0.36),GGTLC2(0.33),GGT2(0.33),RIMBP3B(0.33),ZNF70(0.33),RGL4(0.33),C22orf15(0.33),IGLL1(0.33),VPREB3(0.33),GSTT2B(0.33),TOP3B(0.25),SDF2L1(0.24),PPIL2(0.21),PRAME(0.17),VPREB1(0.17),YDJC(0.16),YPEL1(0.11),ZNF280B(0.1),CCDC116(0),RIMBP3C(0),TMEM191C(0),ZNF280A(0),DRICH1(0),RSPH14(0),GSTT4(0) |
| U19 | cardiovascular | 0.83 | Yes | TTN | TTN(0.83),NFE2L2(0.75),HNRNPA3(0.62),AGPS(0.62),SESTD1(0.57),PDE11A(0.5),PRKRA(0.5),CWC22(0.5),RBM45(0.43),FKBP7(0.39),OSBPL6(0.38),CCDC141(0.33),TTC30A(0.29),PLEKHA3(0.26),TTC30B(0.26),ZNF385B(0.25),PJVK(0) |
| U23.1 | cardiovascular | 0.83 | Yes | HAND2 | HAND2(0.83),AADAT(0.5),HMGB2(0.49),GALNT7(0.42),FBXO8(0.36),HPGD(0.33),SAP30(0.33),CEP44(0.28),ADAM29(0.25),SCRG1(0.17),GALNTL6(0),GLRA3(0) |
| U23.2 | cardiovascular | 0.83 | Yes | HAND2 | HAND2(0.83),AADAT(0.5),HMGB2(0.49),GALNT7(0.42),FBXO8(0.36),HPGD(0.33),SAP30(0.33),CEP44(0.28),ADAM29(0.25),SCRG1(0.17),GALNTL6(0),GLRA3(0) |
| U25 | cardiovascular | 0.83 | Yes | RASA1 | RASA1(0.83),COX7C(0.5),HAPLN1(0.5),TMEM161B(0.35),EDIL3(0.32),CCNH(0.21) |
| U32 | cardiovascular | 0.83 | Yes | MLXIPL | MLXIPL(0.83),GTF2I(0.75),GTF2IRD1(0.75),BAZ1B(0.75),EIF4H(0.65),ELN(0.5),TBL2(0.5),LIMK1(0.5),BCL7B(0.5),VPS37D(0.42),STX1A(0.4),DNAJC30(0.34),RFC2(0.33),CLIP2(0.31),FZD9(0.25),ABHD11(0.23),CLDN4(0.17),CLDN3(0.05),BUD23(0),LAT2(0),METTL27(0),TMEM270(0) |
| U35 | cardiovascular | 1 | Yes | GATA4 | GATA4(1),CTSB(0.67),FDFT1(0.67),TNKS(0.66),SOX7(0.52),MTMR9(0.36),C8orf49(0.33),MFHAS1(0.33),NEIL2(0.33),PPP1R3B(0.33),RP1L1(0.33),XKR6(0.33),PINX1(0.21),BLK(0.17),ERI1(0.11),FAM167A(0.09),MSRA(0.05),C8orf74(0),CLDN23(0),DEFB134(0),DEFB135(0),DEFB136(0),PRAG1(0),PRSS55(0),SLC35G5(0),DEFB130A(0),DEFB130B(0),FAM86B1(0),FAM86B2(0),USP17L2(0),USP17L7(0),ZNF705D(0) |
| U77 | cardiovascular | 0.83 | Yes | TSC2,TBC1D24 | TSC2(0.83),TBC1D24(0.83),PKD1(0.67),NDUFB10(0.67),TRAF7(0.67),CACNA1H(0.63),CLCN7(0.52),MAPK8IP3(0.5),MLST8(0.5),PGP(0.5),HS3ST6(0.5),DNASE1L2(0.5),MEIOB(0.5),CCNF(0.5),ABCA3(0.5),NTN3(0.5),RNPS1(0.48),GNPTG(0.46),CHTF18(0.45),PDPK1(0.39),MRPS34(0.38),NUBP2(0.38),RPS2(0.37),TELO2(0.37),KCTD5(0.37),UBE2I(0.36),HAGH(0.33),GFER(0.33),TBL3(0.33),MSRB1(0.33),CASKIN1(0.33),FAHD1(0.33),E4F1(0.33),RPL3L(0.33),BRICD5(0.33),SYNGR3(0.33),NOXO1(0.33),RAB26(0.33),RNF151(0.33),ECI1(0.33),IFT140(0.32),NTHL1(0.29),ZNF598(0.27),METRN(0.25),NME3(0.25),TSR3(0.25),FBXL16(0.24),SLC9A3R2(0.2),RPUSD1(0.18),LMF1(0.17),C16orf91(0.17),BAIAP3(0.13),C1QTNF8(0.13),GNG13(0.13),PRR25(0.13),SSTR5(0.13),SOX8(0.12),TMEM204(0.12),TPSG1(0.12),PTX4(0.11),UNKL(0.09),EME2(0.08),AMDHD2(0.02),HAGHL(0),ANTKMT(0),CCDC154(0),CCDC78(0),CIAO3(0),CRAMP1(0),IGFALS(0),JPT2(0),MSLN(0),NPW(0),PERCC1(0),SPSB3(0),TPSAB1(0),TPSB2(0),TPSD1(0),TEDC2(0),ATP6V0C(0),CEMP1(0) |
| DGAP012 | limbs | 0.83 | Yes | PHF21A,INSR | PHF21A(0.83),INSR(0.81),PNPLA6(0.67),ELAVL1(0.66),DGKZ(0.63),XAB2(0.63),MAP2K7(0.62),MAPK8IP1(0.62),CREB3L1(0.62),ARHGEF18(0.61),ZNF358(0.61),CLEC4G(0.5),CTXN1(0.5),PET100(0.5),TIMM44(0.5),TRAPPC5(0.5),STXBP2(0.5),SNAPC2(0.49),EVI5L(0.49),CRY2(0.48),CAMSAP3(0.48),MCOLN1(0.48),TGFBR3L(0.48),PEX16(0.36),CCL25(0.33),CD209(0.33),CERS4(0.33),CLEC4M(0.33),FBN3(0.33),FCER2(0.33),LRRC8E(0.33),PCP2(0.33),PEX11G(0.33),RETN(0.33),C11orf94(0.25),LARGE2(0),MCEMP1(0),PRR36(0),TEX45(0) |
| DGAP017 | limbs | 0.83 | Yes | CLCN5,SHROOM4 | CLCN5(0.83),SHROOM4(0.83),DGKK(0.5),SORCS3(0.5),AKAP4(0.5),MAGED1(0.5),GSPT2(0.48),BMP15(0.33),CCNB3(0.33),ITPRIP(0.33),NUDT10(0.33),NUDT11(0.33),USP27X(0.33),MAGED4(0.25),MAGED4B(0.25),SSX2(0.25),SSX2B(0.25),SSX7(0.25),XAGE1A(0.25),XAGE1B(0.25),XAGE2(0.25),XAGE3(0.25),CENPVL1(0),CENPVL2(0),CENPVL3(0),CFAP58(0),EZHIP(0),SPANXN5(0),XAGE5(0) |
| DGAP201 | limbs | 1 | Yes | AUTS2 | AUTS2(1),NCAPG2(0.67),VIPR2(0.5),PTPRN2(0.37),ESYT2(0.33),DYNC2I1(0) |
| DGAP278 | limbs | 0.81 | Yes | SNRPN | SNRPN(0.81),NDN(0.5),EMX2(0.5),MAGEL2(0.39),PDZD8(0.36),SNURF(0.33),CACUL1(0.29),NANOS1(0.29),RAB11FIP2(0.27),SLC18A2(0.26),FAM204A(0.25),MKRN3(0.25),NPAP1(0.25),PRLHR(0.13),GOLGA6L2(0),GOLGA8S(0),LOC102723623(0) |
| NIJ9 | limbs | 0.83 | Yes | PRKAR1A | PRKAR1A(0.83),FBXO7(0.75),PISD(0.75),DEPDC5(0.63),TIMP3(0.61),YWHAH(0.61),PRR14L(0.52),FAM20A(0.5),RTCB(0.5),BPIFC(0.38),SLC5A1(0.38),ABCA10(0.33),ABCA6(0.33),ABCA8(0.33),ABCA9(0.33),AMZ2(0.33),ARSG(0.33),SLC16A6(0.33),WIPI1(0.33),C22orf24(0.26),C22orf42(0.25),RFPL2(0.25),RFPL3(0.25),SLC5A4(0.25),SYN3(0.25),ABCA5(0.07) |
| NIJ12 | limbs | 1 | Yes | SATB2 | SATB2(1),FTCDNL1(0.5),NCK2(0.5),TGFBRAP1(0.36),C2orf49(0.36),FHL2(0.33) |
| UTR4 | limbs | 1 | Yes | TWIST1 | TWIST1(1) |
| UTR8 | limbs | 1 | Yes | SOX9 | SOX9(1),ADARB2(0.5),PFKP(0.43) |
| UTR12 | limbs | 0.83 | Yes | DYRK1A | DYRK1A(0.83),PIGP(0.67),RYR1(0.62),TTC3(0.61),FAM98C(0.54),ACTN4(0.5),EIF3K(0.5),HNRNPL(0.5),KCNJ6(0.49),NFKBIB(0.48),MAP4K1(0.38),HLCS(0.35),CAPN12(0.33),ECH1(0.33),FBXO17(0.33),LGALS4(0.33),LGALS7(0.33),LGALS7B(0.33),MRPS12(0.33),RINL(0.33),RIPPLY3(0.33),SARS2(0.33),SIRT2(0.33),KCNJ15(0.26),RASGRP4(0.25),SPRED3(0.25),CCER2(0),VPS26C(0) |
| U132 | limbs | 0.97 | Yes | SCARF2,DGCR8 | SCARF2(0.97),DGCR8(0.83),TBX1(0.77),CDC45(0.67),DGCR2(0.67),LZTR1(0.67),PI4KA(0.67),SLC25A1(0.67),CRKL(0.66),ZDHHC8(0.5),MED15(0.49),HIRA(0.47),ARVCF(0.41),DGCR6(0.35),C22orf39(0.33),COMT(0.33),DGCR6L(0.33),KLHL22(0.33),MRPL40(0.33),PRODH(0.33),RANBP1(0.33),RTN4R(0.33),THAP7(0.33),TRMT2A(0.33),ZNF74(0.33),GGT2(0.25),GP1BB(0.23),SNAP29(0.21),TANGO2(0.2),AIFM3(0.19),GGTLC3(0.17),GSC2(0.17),GNB1L(0.1),TXNRD2(0.08),CLDN5(0.07),CLTCL1(0.07),CCDC188(0),ESS2(0),LRRC74B(0),P2RX6(0),RIMBP3(0),RTL10(0),SEPTIN5(0),SERPIND1(0),SLC7A4(0),TMEM191B(0),TSSK2(0),UFD1(0) |
| U153 | limbs | 0.83 | Yes | FLNA,MECP2,RPL10 | FLNA(0.83),MECP2(0.83),RPL10(0.82),EMD(0.67),HCFC1(0.67),NAA10(0.67),FAM50A(0.51),L1CAM(0.5),LAGE3(0.5),SSR4(0.5),IRAK1(0.5),ARHGAP4(0.5),ABCD1(0.46),MPP1(0.42),DKC1(0.38),GDI1(0.37),G6PD(0.37),PDZD4(0.37),IDH3G(0.37),BCAP31(0.36),TAZ(0.34),PLXNA3(0.32),IKBKG(0.32),ATP6AP1(0.25),FAM3A(0.25),FUNDC2(0.25),UBL4A(0.25),VBP1(0.25),BRCC3(0.25),MTCP1(0.22),CMC4(0.22),AVPR2(0.17),TKTL1(0.17),RENBP(0.16),OPN1LW(0.15),TMLHE(0.15),TMEM187(0.14),RAB39B(0.13),F8(0.13),GAB3(0.12),SLC10A3(0.11),DNASE1L1(0.1),F8A1(0.06),CTAG2(0),CLIC2(0),CTAG1A(0),CTAG1B(0),F8A2(0),F8A3(0),H2AB1(0),H2AB2(0),H2AB3(0),OPN1MW(0),OPN1MW2(0),PLXNB3(0),SMIM9(0),SRPK3(0) |
| U23.1 | limbs | 0.83 | Yes | HAND2 | HAND2(0.83),HMGB2(0.49),FBXO8(0.48),GALNT7(0.48),CEP44(0.44),HPGD(0.36),SCRG1(0.35),SAP30(0.33),GALNTL6(0.03),ADAM29(0),GLRA3(0) |
| U23.2 | limbs | 0.83 | Yes | HAND2 | HAND2(0.83),HMGB2(0.49),FBXO8(0.48),GALNT7(0.48),CEP44(0.44),HPGD(0.36),SCRG1(0.35),SAP30(0.33),GALNTL6(0.03),ADAM29(0),GLRA3(0) |
| U75 | limbs | 1 | Yes | MEIS2 | MEIS2(1),ACTC1(0.66),SPRED1(0.65),AQR(0.5),RASGRP1(0.48),FAM98B(0.33),ZNF770(0.33),GJD2(0.13),DPH6(0.01),CDIN1(0),NANOGP8(0),TMCO5A(0) |
| U99 | limbs | 0.83 | Yes | NXN,HIC1 | NXN(0.83),HIC1(0.83),ABR(0.67),SERPINF1(0.67),TIMM22(0.67),GEMIN4(0.67),METTL16(0.5),PAFAH1B1(0.5),PRPF8(0.5),SMG6(0.5),CRK(0.5),BHLHA9(0.5),PITPNA(0.49),YWHAE(0.49),RPA1(0.49),SRR(0.48),TSR1(0.48),DPH1(0.47),WDR81(0.42),CLUH(0.37),GLOD4(0.33),SGSM2(0.33),RTN4RL1(0.33),RAP1GAP2(0.33),CTNS(0.31),OVCA2(0.28),MNT(0.25),EMC6(0.25),TAX1BP3(0.25),C17orf97(0.25),SMYD4(0.2),INPP5K(0.19),SHPK(0.18),DOC2B(0.17),MYO1C(0.15),VPS53(0.06),TRPV1(0.05),RPH3AL(0.02),SCARF1(0.02),SLC43A2(0.01),RILP(0.01),ASPA(0),CCDC92B(0),MRM3(0),OR1A1(0),OR1A2(0),OR1D2(0),OR1D5(0),OR1E1(0),OR1E2(0),OR1E3(0),OR1G1(0),OR3A1(0),OR3A2(0),OR3A3(0),P2RX5(0),RFLNB(0),SERPINF2(0),SPATA22(0),TLCD2(0),TLCD3A(0),TRARG1(0),TRPV3(0) |
| DGAP012 | neurodevelopmental | 0.81 | Yes | MCOLN1 | MCOLN1(0.81),CAMSAP3(0.75),PNPLA6(0.75),CKAP5(0.75),MADD(0.75),PHF21A(0.72),PEX16(0.69),SLC39A13(0.67),MAP2K7(0.67),ELAVL1(0.66),MYBPC3(0.65),XAB2(0.63),MDK(0.63),NDUFS3(0.63),CELF1(0.63),EVI5L(0.62),PSMC3(0.62),ATG13(0.62),ZNF358(0.61),ACP2(0.6),AMBRA1(0.59),NUP160(0.55),CHRM4(0.5),CLEC4G(0.5),CTXN1(0.5),F2(0.5),LRP4(0.5),SNAPC2(0.5),TIMM44(0.5),TRAPPC5(0.5),STXBP2(0.5),ARHGAP1(0.5),ARFGAP2(0.5),KBTBD4(0.5),C11orf49(0.5),C1QTNF4(0.5),MTCH2(0.5),PTPMT1(0.5),FNBP4(0.48),NR1H3(0.48),CERS4(0.48),FBN3(0.45),DGKZ(0.43),CCL25(0.38),CREB3L1(0.36),SPI1(0.36),DDB2(0.34),ZNF408(0.34),AGBL2(0.33),CD209(0.33),CLEC4M(0.33),FAM180B(0.33),FCER2(0.33),HARBI1(0.33),LRRC8E(0.33),PACSIN3(0.33),PCP2(0.33),PEX11G(0.33),PTPRJ(0.33),RAPSN(0.33),RETN(0.33),C11orf94(0.25),LARGE2(0),MCEMP1(0),PET100(0),PRR36(0),TEX45(0),TGFBR3L(0) |
| DGAP055 | neurodevelopmental | 0.88 | Yes | PTPRD | PTPRD(0.88),SAMD9(0.67),CDK6(0.54),FAM133B(0.33),SAMD9L(0.33) |
| DGAP093 | neurodevelopmental | 0.88 | Yes | PDHA1,PHKA2 | PDHA1(0.88),PHKA2(0.82),CDKL5(0.7),CLPP(0.66),KHSRP(0.63),ACER1(0.5),ACSBG2(0.5),ALKBH7(0.5),NRTN(0.5),RS1(0.5),PPEF1(0.5),MLLT1(0.5),RANBP3(0.49),SCML2(0.4),CAPS(0.33),FUT3(0.33),FUT5(0.33),FUT6(0.33),GTF2F1(0.33),NDUFA11(0.33),PSPN(0.33),RFX2(0.33),VMAC(0.33),SLC25A41(0.25),ADGRG2(0),LOC390877(0) |
| DGAP097 | neurodevelopmental | 0.83 | Yes | NHS | NHS(0.83),DCAF12(0.63),UBAP1(0.62),UBE2R2(0.62),UBAP2(0.59),NOL6(0.58),ANKRD18B(0.5),AQP3(0.5),CHMP5(0.5),PRSS3(0.5),RBBP7(0.5),REPS2(0.5),SCML1(0.49),NFX1(0.49),AQP7(0.48),BAG1(0.46),SPINK4(0.33),TXLNG(0.28) |
| DGAP100 | neurodevelopmental | 0.88 | Yes | NDP,NSD1 | NDP(0.88),NSD1(0.83),UNC5A(0.66),MAOB(0.66),KDM6A(0.65),FAM193B(0.6),DBN1(0.5),DDX41(0.5),EIF4E1B(0.5),F12(0.5),GRK6(0.5),PFN3(0.5),RGS14(0.5),SLC34A1(0.5),SNCB(0.5),EFHC2(0.49),FUNDC1(0.46),PDLIM7(0.43),PRELID1(0.36),DUSP21(0.33),FGFR4(0.33),GPRIN1(0.33),HK3(0.33),LMAN2(0.33),MXD3(0.33),PRR7(0.33),RAB24(0.33),TSPAN17(0.33),UIMC1(0.33),ZNF346(0.33),DOK3(0.25),DIPK2B(0) |
| DGAP105 | neurodevelopmental | 0.88 | Yes | KDM3B,HSPA9,AHDC1,SLC9A1 | KDM3B(0.88),HSPA9(0.87),AHDC1(0.83),SLC9A1(0.82),PURA(0.77),NDUFA2(0.75),EGR1(0.75),LRRTM2(0.74),WASF2(0.68),MATR3(0.67),SIL1(0.67),ETF1(0.63),PFDN1(0.63),PSD2(0.63),WDTC1(0.63),TMEM222(0.63),YTHDF2(0.62),CTNNA1(0.62),TRNAU1AP(0.62),PPP1R8(0.62),UBE2D2(0.62),RPA2(0.62),STX12(0.61),REEP2(0.61),HARS2(0.58),HBEGF(0.57),EYA3(0.57),FAM53C(0.55),RCC1(0.53),GMEB1(0.52),TAF12(0.51),ANKHD1-EIF4EBP3(0.51),CXXC5(0.5),DNAJC18(0.5),DNAJC8(0.5),GPR3(0.5),IK(0.5),NRG2(0.5),PAIP2(0.5),SYTL1(0.5),ANKHD1(0.5),IFI6(0.5),TRNP1(0.5),MED18(0.47),SLC35A4(0.46),EIF4EBP3(0.43),SRA1(0.41),DND1(0.4),TMCO6(0.4),APBB3(0.4),SLC23A1(0.38),SMPDL3B(0.38),SPATA24(0.38),PHACTR4(0.38),CDC25C(0.37),ECSCR(0.35),CD164L2(0.33),FCN3(0.33),GFRA3(0.33),MAP3K6(0.33),WDR55(0.33),SESN2(0.33),CD14(0.33),XKR8(0.31),FAM76A(0.28),IGIP(0.26),FGR(0.25),PTAFR(0.25),RAB42(0.25),SLC4A9(0.25),ATP5IF1(0),CYSTM1(0),HARS1(0),MZB1(0),PROB1(0),SMIM33(0),STING1(0),TENT5B(0),THEMIS2(0) |
| DGAP131 | neurodevelopmental | 0.88 | Yes | MEF2C | MEF2C(0.88),MCOLN3(0.67),DDAH1(0.63),CETN3(0.55),COL24A1(0.5),C1orf52(0.5),LYSMD3(0.33),BCL10(0.33),SYDE2(0.33),MBLAC2(0.3),POLR3G(0.25),ZNHIT6(0.07),ADGRV1(0),CCN1(0),DNAI3(0) |
| DGAP132 | neurodevelopmental | 0.88 | Yes | COL1A2,MAP1B | COL1A2(0.88),MAP1B(0.83),CARTPT(0.67),MCCC2(0.67),PEG10(0.61),PPP1R9A(0.6),SGCE(0.55),CASD1(0.5),SMN1(0.5),TNPO1(0.5),PON2(0.41),PON3(0.38),BDP1(0.33),FCHO2(0.33),GTF2H2(0.33),MRPS27(0.33),NAIP(0.33),PON1(0.33),PTCD2(0.33),SERF1A(0.33),ZNF366(0.33),ASB4(0.25),PDK4(0.25) |
| DGAP148 | neurodevelopmental | 0.98 | Yes | BCOR,TSPAN7 | BCOR(0.98),TSPAN7(0.86),ATP6AP2(0.75),KIRREL3(0.72),DCPS(0.67),MID1IP1(0.59),ST3GAL4(0.51) |
| DGAP152 | neurodevelopmental | 0.99 | Yes | PTCH1 | PTCH1(0.99),FANCC(0.67),CAPN12(0.5),MRPS12(0.5),SIRT2(0.5),HNRNPL(0.5),ACTN4(0.49),RYR1(0.49),MAP4K1(0.48),NFKBIB(0.48),ZNF510(0.46),HABP4(0.42),CDC14B(0.39),ECH1(0.33),EIF3K(0.33),FBXO17(0.33),LGALS4(0.33),LGALS7(0.33),LGALS7B(0.33),RINL(0.33),ZNF367(0.26),HSD17B3(0.25),SLC35D2(0.25),CCER2(0),ERCC6L2(0),PRXL2C(0),SARS2(0) |
| DGAP153 | neurodevelopmental | 0.88 | Yes | NDP | NDP(0.88),USP22(0.75),KDM6A(0.73),MAOB(0.66),AKAP10(0.51),KCNJ12(0.5),TMEM11(0.5),EFHC2(0.49),FUNDC1(0.46),SPECC1(0.41),DHRS7B(0.39),MAP2K3(0.33),MTRNR2L1(0.33),CDRT15L2(0.25),DUSP21(0.25),FAM106B(0.25),LGALS9B(0.25),DIPK2B(0),NATD1(0) |
| DGAP155 | neurodevelopmental | 1 | Yes | GRIN1,CACNA1B,OLFM1,ABCA2,KCNT1,LHX3,PHF21A,INPP5E,TPRN | GRIN1(1),CACNA1B(0.97),OLFM1(0.87),ABCA2(0.87),KCNT1(0.83),LHX3(0.83),PHF21A(0.83),INPP5E(0.83),TPRN(0.82),CKAP5(0.75),MADD(0.75),MRPS2(0.75),CAMSAP1(0.75),PPP1R26(0.75),EHMT1(0.7),PMPCA(0.69),PEX16(0.69),MAN1B1(0.67),RNF208(0.67),TMEM203(0.67),AMBRA1(0.63),CELF1(0.63),GPSM1(0.63),MDK(0.63),MRPL41(0.63),NDUFS3(0.63),NPDC1(0.63),WDR5(0.63),DPP7(0.63),PTGDS(0.63),PSMC3(0.62),ATG13(0.62),TUBB4B(0.62),SEC16A(0.62),NOTCH1(0.62),EDF1(0.61),UBAC1(0.61),ZMYND19(0.61),ANAPC2(0.6),ACP2(0.6),SLC39A13(0.59),NUP160(0.57),ARRDC1(0.51),AGPAT2(0.5),ARFGAP2(0.5),ARHGAP1(0.5),C11orf49(0.5),C1QTNF4(0.5),C9orf62(0.5),CHRM4(0.5),ENTPD2(0.5),FBXW5(0.5),KBTBD4(0.5),LRRC26(0.5),MTCH2(0.5),MYBPC3(0.5),NACC2(0.5),PHPT1(0.5),PTPMT1(0.5),SSNA1(0.5),TMEM210(0.5),F2(0.5),C9orf163(0.5),NDOR1(0.5),RNF224(0.5),FAM166A(0.5),RXRA(0.49),TRAF2(0.49),SLC34A3(0.48),FNBP4(0.47),DGKZ(0.43),LRP4(0.43),COL5A1(0.41),DNLZ(0.4),NR1H3(0.39),TMEM141(0.38),FUT7(0.36),SPI1(0.36),CREB3L1(0.36),EGFL7(0.36),SNAPC4(0.35),DDB2(0.34),QSOX2(0.34),ZNF408(0.34),HARBI1(0.33),C11orf94(0.33),C8G(0.33),C9orf116(0.33),C9orf139(0.33),CARD9(0.33),CLIC3(0.33),ENTPD8(0.33),EXD3(0.33),FCN1(0.33),FCN2(0.33),GLT6D1(0.33),LCN1(0.33),LCN10(0.33),LCN12(0.33),LCN15(0.33),LCN6(0.33),LCN8(0.33),LCN9(0.33),LCNL1(0.33),MAMDC4(0.33),NOXA1(0.33),NRARP(0.33),OBP2A(0.33),PAEP(0.33),PNPLA7(0.33),SOHLH1(0.33),UAP1L1(0.33),PTPRJ(0.31),PACSIN3(0.26),AGBL2(0.25),FAM180B(0.25),RAPSN(0.25),AJM1(0),CCDC183(0),CCDC187(0),CYSRT1(0),DIPK1B(0),DPH7(0),ENTR1(0),LARGE2(0),LOC102723971(0),NELFB(0),NSMF(0),PAXX(0),RABL6(0),SAPCD2(0),STPG3(0),TMEM250(0),TOR4A(0) |
| DGAP157 | neurodevelopmental | 0.83 | Yes | ANK3,FOXP1 | ANK3(0.83),FOXP1(0.83),MDFIC2(0) |
| DGAP162 | neurodevelopmental | 0.98 | Yes | SOX6,CALCA | SOX6(0.98),CALCA(0.81),ID2(0.74),CALCB(0.67),COPB1(0.63),PSMA1(0.62),C11orf58(0.5),INSC(0.5),CYP2R1(0.33),PDE3B(0.33) |
| DGAP163 | neurodevelopmental | 0.85 | Yes | SOS1 | SOS1(0.85),STRN3(0.71),NUBPL(0.67),AKAP6(0.63),HECTD1(0.63),MAP4K3(0.57),ARHGAP5(0.56),AP4S1(0.53),COCH(0.51),GPR33(0.5),CDKL4(0.33),HEATR5A(0.33),THUMPD2(0.33),DTD2(0),TMEM178A(0) |
| DGAP166 | neurodevelopmental | 0.88 | Yes | SCN2A,SCN3A | SCN2A(0.88),SCN3A(0.88),SLC8A1(0.62),GALNT3(0.5),SCN1A(0.5),CSRNP3(0.5),COBLL1(0.36),SLC38A11(0.33),TTC21B(0.33) |
| DGAP170 | neurodevelopmental | 0.88 | Yes | SLC2A1,MCOLN1 | SLC2A1(0.88),MCOLN1(0.81),ELAVL1(0.67),PNPLA6(0.67),MAP2K7(0.67),CAMSAP3(0.65),CCL25(0.5),CLEC4G(0.5),XAB2(0.5),STXBP2(0.5),EVI5L(0.49),TIMM44(0.48),ARHGEF18(0.47),ZNF358(0.36),CD209(0.33),CERS4(0.33),CLEC4M(0.33),CTXN1(0.33),ERMAP(0.33),FBN3(0.33),FCER2(0.33),LRRC8E(0.33),PCP2(0.33),PEX11G(0.33),RETN(0.33),SNAPC2(0.33),TRAPPC5(0.33),ZNF691(0.33),MCEMP1(0),PET100(0),PRR36(0),SVBP(0),TEX45(0),TGFBR3L(0) |
| DGAP171 | neurodevelopmental | 0.83 | Yes | SLC13A5 | SLC13A5(0.83),PSMG2(0.75),DERL2(0.65),AFG3L2(0.63),RPAIN(0.63),SEH1L(0.63),SPIRE1(0.63),RABEP1(0.62),NUP88(0.62),PTPN2(0.61),C1QBP(0.5),FBXO39(0.5),RNMT(0.5),SLC16A11(0.5),TEKT1(0.5),XAF1(0.5),ASGR1(0.5),C17orf49(0.5),RNASEK(0.5),TXNDC17(0.5),WSCD1(0.5),MIS12(0.47),MED31(0.46),C17orf100(0.43),PITPNM3(0.42),KIAA0753(0.4),MC2R(0.38),MC5R(0.38),DHX33(0.36),AIPL1(0.33),ALOX12(0.33),ASGR2(0.33),BCL6B(0.33),CEP192(0.33),CEP76(0.33),CLEC10A(0.33),NLRP1(0.33),SLC16A13(0.33),ZNF519(0.26),ANKRD30B(0.25),POTEC(0.25),FAM210A(0),LDLRAD4(0),LOC728392(0),PIMREG(0),PRELID3A(0) |
| DGAP179 | neurodevelopmental | 0.87 | Yes | SLITRK1 | SLITRK1(0.87),ID2(0.74) |
| DGAP189 | neurodevelopmental | 0.99 | Yes | SLC1A2,SOX5 | SLC1A2(0.99),SOX5(0.83),CD44(0.67),PAMR1(0.5),BCAT1(0.45),C12orf77(0.25),IRAG2(0),LOC645177(0) |
| DGAP190 | neurodevelopmental | 0.84 | Yes | CNKSR2,SMS,MBTPS2 | CNKSR2(0.84),SMS(0.83),MBTPS2(0.82),NKX3-1(0.67),CHMP7(0.62),NKX2-6(0.5),R3HCC1(0.5),ENTPD4(0.41),ADAM28(0.33),ADAM7(0.33),ADAMDEC1(0.33),KLHL34(0.33),SLC25A37(0.33),SMPX(0.33),STC1(0.33),YY2(0.33),LOXL2(0.26),TNFRSF10A(0.25),TNFRSF10C(0.25),TNFRSF10D(0.25) |
| DGAP191 | neurodevelopmental | 0.88 | Yes | MEF2C | MEF2C(0.88),COL1A2(0.67),CETN3(0.55),PON3(0.5),PPP1R9A(0.5),SGCE(0.5),PEG10(0.48),LYSMD3(0.33),ASB4(0.33),CASD1(0.33),PDK4(0.33),PON1(0.33),PON2(0.33),MBLAC2(0.3),POLR3G(0.25),ADGRV1(0) |
| DGAP192 | neurodevelopmental | 1 | Yes | CDH11 | CDH11(1),NPSR1(0.5),TBX20(0.5),DPY19L1(0.4) |
| DGAP193 | neurodevelopmental | 0.83 | Yes | SPAST | SPAST(0.83),DCAF17(0.67),BIRC6(0.5),DPY30(0.5),TLK1(0.5),FAM98A(0.33),LTBP1(0.33),METTL8(0.33),NLRC4(0.33),RASGRP3(0.33),SLC30A6(0.33),TTC27(0.33),YIPF4(0.33) |
| DGAP199 | neurodevelopmental | 0.87 | Yes | RBM8A,TBX15,PHGDH,WARS2 | RBM8A(0.87),TBX15(0.83),PHGDH(0.83),WARS2(0.83),PDE4DIP(0.75),PEX11B(0.75),POLR3GL(0.75),HMGCS2(0.67),SPAG17(0.66),LIX1L(0.63),SEC22B(0.5),TXNIP(0.5),ZNF697(0.5),POLR3C(0.5),ADAM30(0.5),PIAS3(0.5),HAO2(0.49),HSD3B1(0.49),REG4(0.49),RNF115(0.49),ANKRD34A(0.47),FAM72D(0.33),HSD3B2(0.33),NBPF7(0.33),NBPF9(0.33),PPIAL4A(0.33),NUDT17(0.28),NOTCH2(0.27),ANKRD35(0.26),CD160(0.25),FAM72B(0.25),ITGA10(0.25),NBPF10(0.25),HJV(0),NOTCH2NLA(0),SRGAP2C(0) |
| DGAP201 | neurodevelopmental | 1 | Yes | AUTS2 | AUTS2(1),MNX1(0.75),SHH(0.75),UBE3C(0.68),NCAPG2(0.67),PTPRN2(0.66),EN2(0.63),DNAJB6(0.5),VIPR2(0.5),CNPY1(0.49),LMBR1(0.49),RBM33(0.47),ESYT2(0.45),RNF32(0.36),NOM1(0.27),DYNC2I1(0) |
| DGAP202 | neurodevelopmental | 0.88 | Yes | NDP | NDP(0.88),MAOB(0.66),KDM6A(0.65),AGTR2(0.5),SLC6A14(0.5),EFHC2(0.49),FUNDC1(0.46),DUSP21(0.33),KLHL13(0.14),CT83(0),DIPK2B(0) |
| DGAP218 | neurodevelopmental | 0.88 | Yes | MEF2C | MEF2C(0.88),CETN3(0.55),CDH10(0.5),LYSMD3(0.33),MBLAC2(0.33),POLR3G(0.33),ADGRV1(0) |
| DGAP220 | neurodevelopmental | 0.87 | Yes | NRN1,DHCR24 | NRN1(0.87),DHCR24(0.87),FARS2(0.67),TMEM59(0.63),YIPF1(0.63),PARS2(0.52),F13A1(0.51),LRRC42(0.5),MRPL37(0.5),PPP1R3G(0.5),SSBP3(0.5),LYRM4(0.46),HSPB11(0.44),TTC4(0.39),ACOT11(0.38),GLIS1(0.38),LY86(0.33),TCEANC2(0.26),CDCP2(0.25),CYB5RL(0.25),DIO1(0.25),DMRTB1(0.25),FAM151A(0.25),LDLRAD1(0.25),TTC22(0.25),LEXM(0),MROH7(0),NDC1(0) |
| DGAP237 | neurodevelopmental | 1 | Yes | SATB2 | SATB2(1),ASAH1(0.75),PSD3(0.64),NAT1(0.33),NAT2(0.33),FTCDNL1(0) |
| DGAP243 | neurodevelopmental | 0.87 | Yes | WDR1,PBX1 | WDR1(0.87),PBX1(0.83),DRD5(0.67),ZNF518B(0.54),HMX1(0.5),SLC2A9(0.5),CLNK(0.33),NUF2(0.33),RGS5(0.33),USP17L5(0.33),HS3ST1(0.33),DEFB131A(0),FAM90A26(0),USP17L10(0),USP17L11(0),USP17L12(0),USP17L13(0),USP17L15(0),USP17L17(0),USP17L18(0),USP17L19(0),USP17L20(0),USP17L21(0),USP17L22(0),USP17L24(0),USP17L25(0),USP17L26(0),USP17L27(0),USP17L28(0),USP17L29(0),USP17L30(0) |
| DGAP244 | neurodevelopmental | 1 | Yes | ZIC1,CTNND2 | ZIC1(1),CTNND2(0.83),ZIC4(0.67),AGTR1(0.5),DAP(0.5),GYG1(0.5),ANKRD33B(0.49),ROPN1L(0.38),CPA3(0.33),CPB1(0.33) |
| DGAP245 | neurodevelopmental | 1 | Yes | FOXG1 | FOXG1(1),G2E3(0.56),PRKD1(0.53),SCFD1(0.53),STAC(0.5),ARPP21(0.33),DCLK3(0.33),TRANK1(0.2) |
| DGAP249 | neurodevelopmental | 1 | Yes | SATB2 | SATB2(1),GRAMD1B(0.75),CLMP(0.63),HSPA8(0.63),BSX(0.62),SORL1(0.62),UBASH3B(0.43),BLID(0.25),CRTAM(0.25),FTCDNL1(0),JHY(0),SC5D(0) |
| DGAP255 | neurodevelopmental | 0.83 | Yes | SYT7 | SYT7(0.83),ACOX1(0.75),EXOC7(0.75),TMEM216(0.67),UBE2O(0.67),DAGLA(0.64),WBP2(0.63),ZACN(0.63),FOXJ1(0.62),FADS1(0.5),FADS2(0.5),FADS3(0.5),GALR2(0.5),PPP1R32(0.5),PRPSAP1(0.5),RNF157(0.5),SRP68(0.5),ST6GALNAC2(0.5),TMEM138(0.5),CPSF7(0.5),INCENP(0.48),MRPL38(0.48),MXRA7(0.48),TRIM47(0.46),SPHK1(0.4),FTH1(0.37),AANAT(0.33),BEST1(0.33),CYGB(0.33),FEN1(0.33),LRRC10B(0.33),PRCD(0.33),RAB3IL1(0.33),RHBDF2(0.33),SCGB1D1(0.33),SCGB2A1(0.33),SDHAF2(0.33),ST6GALNAC1(0.33),TRIM65(0.31),QRICH2(0.29),TEN1(0.29),CDK3(0.29),FBF1(0.26),EVPL(0.25),UNC13D(0.25),CYB561A3(0),MYRF(0),TMEM258(0),UBALD2(0) |
| DGAP270 | neurodevelopmental | 1 | Yes | PCDH19,SHROOM4,FOXP3 | PCDH19(1),SHROOM4(0.83),FOXP3(0.83),USP27X(0.67),DGKK(0.67),TSPAN6(0.63),SRPX2(0.62),CLCN5(0.5),AKAP4(0.5),PPP1R3F(0.33),BMP15(0.33),CCNB3(0.33),GAGE1(0.33),GAGE10(0.33),GAGE12B(0.33),GAGE12C(0.33),GAGE12D(0.33),GAGE12E(0.33),GAGE12F(0.33),GAGE12G(0.33),GAGE12H(0.33),GAGE12J(0.33),GAGE13(0.33),GAGE2A(0.33),GAGE2B(0.33),GAGE2C(0.33),GAGE2D(0.33),GAGE2E(0.33),PAGE1(0.33),PAGE4(0.33),TNMD(0.25) |
| DGAP278 | neurodevelopmental | 1 | Yes | GABRB3,GABRA5,UBE3A,SNRPN | GABRB3(1),GABRA5(0.95),UBE3A(0.88),SNRPN(0.81),EMX2(0.71),PDZD8(0.69),PRLHR(0.67),RAB11FIP2(0.53),ATP10A(0.5),FAM204A(0.36),SNURF(0.33),NANOS1(0.3),CACUL1(0) |
| DGAP287 | neurodevelopmental | 0.84 | Yes | DICER1 | DICER1(0.84),GSC(0.67),CELF2(0.63),DDX24(0.63),USP6NL(0.62),IFI27(0.5),IFI27L1(0.5),IFI27L2(0.5),PPP4R4(0.5),SERPINA11(0.5),SERPINA3(0.5),SERPINA6(0.5),GLRX5(0.5),CLMN(0.36),SERPINA1(0.33),SERPINA10(0.33),SERPINA12(0.33),SERPINA4(0.33),SERPINA5(0.33),SERPINA9(0.33),ECHDC3(0.27),PROSER2(0),SYNE3(0) |
| DGAP291 | neurodevelopmental | 0.98 | Yes | WNT1,SCN8A,SMARCD1,TUBA1A,KCNH3,DIP2B,AQP2 | WNT1(0.98),SCN8A(0.83),SMARCD1(0.83),TUBA1A(0.83),KCNH3(0.83),DIP2B(0.83),AQP2(0.82),GIT1(0.75),SEZ6(0.75),AQP5(0.66),DHH(0.65),DDN(0.64),NUFIP2(0.64),ACVR1B(0.63),MYO18A(0.63),PHF12(0.63),SUPT6H(0.63),TAOK1(0.63),RPL23A(0.61),SSH2(0.53),BIN2(0.5),C1QL4(0.5),CERS5(0.5),DHRS13(0.5),DNAJC22(0.5),ERAL1(0.5),FAIM2(0.5),FLOT2(0.5),FMNL3(0.5),KIAA0100(0.5),LIMA1(0.5),PRKAG1(0.5),PRPH(0.5),SDF2(0.5),TIAF1(0.5),TRAF4(0.5),TROAP(0.5),TUBA1B(0.5),WNT10B(0.5),CSRNP2(0.5),MCRS1(0.5),ARF3(0.5),ANKRD13B(0.5),SLC4A8(0.49),PIPOX(0.49),PRPF40B(0.48),ATF1(0.48),LARP4(0.48),ACVRL1(0.42),ABHD15(0.38),NEK8(0.38),SPATS2(0.37),POU6F1(0.36),AQP6(0.33),BCDIN3D(0.33),CCDC65(0.33),CELA1(0.33),CORO6(0.33),DAZAP2(0.33),EFCAB5(0.33),FAM186A(0.33),FAM186B(0.33),FKBP11(0.33),GALNT6(0.33),GPD1(0.33),HIGD1C(0.33),LETMD1(0.33),LMBR1L(0.33),METTL7A(0.33),NCKAP5L(0.33),RACGAP1(0.33),RHEBL1(0.33),SLC11A2(0.33),SMAGP(0.33),TFCP2(0.33),TMBIM6(0.33),TMPRSS12(0.33),TUBA1C(0.33),TP53I13(0.33),SPAG5(0.32),RAB34(0.29),ANKRD33(0.25),CRYBA1(0.25),PROCA1(0.25),TLCD1(0.25),ASIC1(0),COX14(0),FAM222B(0),FIGNL2(0),KMT2D(0),RSKR(0),TMDD1(0) |
| DGAP301 | neurodevelopmental | 0.83 | Yes | MEF2C | MEF2C(0.83),CHSY1(0.75),ALDH1A3(0.62),LRRK1(0.62),ASB7(0.59),TM2D3(0.53),CERS3(0.49),SNRPA1(0.39),PCSK6(0.39),ADAMTS17(0.37),OR4F15(0.25),OR4F4(0.25),OR4F6(0.25),LINS1(0),SELENOS(0),TARS3(0) |
| DGAP314 | neurodevelopmental | 1 | Yes | POU3F3 | POU3F3(1),MRPS9(0.38),GPR45(0.37),KCNH7(0.33) |
| DGAP315 | neurodevelopmental | 1 | Yes | TFAP2A | TFAP2A(1),PAK1IP1(0.61),GCNT2(0.5),TMEM14C(0.5),KHDRBS2(0.46),C6orf52(0.33),SLC35B3(0.33),TMEM14B(0.33),MTRNR2L9(0.25) |
| DGAP319 | neurodevelopmental | 0.87 | Yes | PCDH17 | PCDH17(0.87),TDRD3(0.62),DIAPH3(0.5) |
| DGAP329 | neurodevelopmental | 1 | Yes | ZEB2 | ZEB2(1),GTDC1(0.47),ARHGAP15(0.25) |
| MGH9 | neurodevelopmental | 0.83 | Yes | TCF4 | TCF4(0.83),WDR7(0.62),TXNL1(0.62),RAB27B(0.38),C18orf54(0.27),CCDC68(0.25),STARD6(0.25),DYNAP(0) |
| ROC1 | neurodevelopmental | 0.88 | Yes | MEF2C,CHD2 | MEF2C(0.88),CHD2(0.83),CETN3(0.55),RGMA(0.5),LYSMD3(0.33),MBLAC2(0.33),POLR3G(0.33),MCTP2(0.33),ADGRV1(0),LOC105370980(0) |
| ROC4 | neurodevelopmental | 0.99 | Yes | CAMTA1 | CAMTA1(0.99),GPR153(0.75),DNAJC11(0.75),CHD5(0.75),ESPN(0.67),ACOT7(0.63),PHF13(0.62),RPL22(0.61),ICMT(0.52),GNG2(0.5),HES2(0.5),HES3(0.5),PER3(0.5),PTGER2(0.5),ZBTB48(0.5),THAP3(0.5),PLEKHG5(0.41),VAMP3(0.4),FRMD6(0.38),PTGDR(0.38),TRIM9(0.38),TMX1(0.37),NOL9(0.37),KLHL21(0.33),RNF207(0.33),TAS1R1(0.33),TNFRSF25(0.33),UTS2(0.33),NID2(0.32),PYGL(0.25),RTRAF(0) |
| ROC5 | neurodevelopmental | 0.88 | Yes | CREBBP | CREBBP(0.88),PAM16(0.75),DNAJA3(0.73),THOC6(0.7),USP22(0.66),HMOX2(0.63),NAA60(0.61),GLIS2(0.61),PKMYT1(0.52),CLDN9(0.5),CLUAP1(0.5),CORO7(0.5),FLYWCH2(0.5),HCFC1R1(0.5),KCNJ12(0.5),KCTD5(0.5),MGRN1(0.5),NMRAL1(0.5),OR1F1(0.5),PAQR4(0.5),SPECC1(0.5),SRRM2(0.5),TRAP1(0.5),ZNF597(0.5),ZSCAN10(0.5),IL32(0.5),ZNF213(0.5),ZNF205(0.5),ZNF263(0.5),C16orf90(0.49),SLX4(0.49),TFAP4(0.49),FLYWCH1(0.47),TIGD7(0.43),ADCY9(0.4),CLDN6(0.38),PRSS33(0.38),DNASE1(0.38),ZNF75A(0.37),ZNF174(0.37),AKAP10(0.33),C16orf96(0.33),CDRT15L2(0.33),DHRS7B(0.33),FAM106B(0.33),LGALS9B(0.33),MAP2K3(0.33),MEFV(0.33),MTRNR2L1(0.33),MTRNR2L4(0.33),NLRC3(0.33),OR2C1(0.33),SRL(0.33),TMEM11(0.33),VASN(0.33),ZNF200(0.33),PRSS27(0.29),KREMEN2(0.25),PRSS21(0.25),PRSS22(0.25),PRSS41(0.25),TNFRSF12A(0.25),ZG16B(0.25),MMP25(0.18),BICDL2(0),CDIP1(0),CORO7-PAM16(0),ELOB(0),NATD1(0),UBALD1(0),ZSCAN32(0) |
| ROC24 | neurodevelopmental | 0.83 | Yes | COL12A1 | COL12A1(0.83),TMEM30A(0.63),SLC17A5(0.62),COX7A2(0.5),CD109(0.25) |
| ROC37 | neurodevelopmental | 1 | Yes | TFAP2B | TFAP2B(1),ACAT2(0.75),IGF2R(0.68),TFAP2D(0.65),SOD2(0.63),TCP1(0.62),MAS1(0.5),MRPL18(0.5),SLC22A3(0.5),DEFB110(0.33),DEFB112(0.33),PNLDC1(0.33),SLC22A1(0.33),SLC22A2(0.33),PKHD1(0.25) |
| ROC39 | neurodevelopmental | 1 | Yes | ZEB2 | ZEB2(1),ZBTB20(0.62),GAP43(0.5),ZDHHC23(0.5),GTDC1(0.39),DRD3(0.38),GRAMD1C(0.38),ARHGAP15(0.33),TIGIT(0.25),ZNF80(0.25),CCDC191(0),QTRT2(0) |
| ROC55 | neurodevelopmental | 0.88 | Yes | ASTN1 | ASTN1(0.88),CDC73(0.66),RASAL2(0.66),B3GALT2(0.63),RGS2(0.63),UCHL5(0.59),GLRX2(0.34),RGS1(0.33),RGS13(0.33),SEC16B(0.33),BRINP2(0),CRYZL2P-SEC16B(0),RO60(0) |
| ROC59 | neurodevelopmental | 0.88 | Yes | RAD21 | RAD21(0.88),MMP16(0.74),TRPS1(0.65),EIF3H(0.62),SLC30A8(0.33),UTP23(0.33),CNBD1(0.25),CNGB3(0.25),DCAF4L2(0.25),AARD(0) |
| NIJ1 | neurodevelopmental | 1 | Yes | FOXG1 | FOXG1(1),STMN2(0.74),G2E3(0.56),IL7(0.55),PRKD1(0.53),SCFD1(0.53),PKIA(0.5),ZC2HC1A(0) |
| NIJ3 | neurodevelopmental | 0.88 | Yes | EIF4A3,ACTG1,RAC3,CBX4,RBFOX3,SGSH | EIF4A3(0.88),ACTG1(0.87),RAC3(0.87),CBX4(0.86),RBFOX3(0.84),SGSH(0.83),ARHGDIA(0.75),FASN(0.75),PYCR1(0.75),TBCD(0.75),CSNK1D(0.75),PCYT2(0.75),FOXK2(0.74),CBX2(0.72),BAHCC1(0.67),GCGR(0.67),NOTUM(0.67),RPTOR(0.67),MTRR(0.67),GAA(0.66),SLC26A11(0.66),CBX8(0.65),HGS(0.65),NPTX1(0.65),BAIAP2(0.63),SLC25A10(0.63),GPS1(0.62),P4HB(0.62),METRNL(0.61),NPLOC4(0.61),MAFG(0.59),ASPSCR1(0.53),ANAPC11(0.5),ARL16(0.5),DCXR(0.5),ENPP7(0.5),FN3KRP(0.5),NARF(0.5),NPB(0.5),SIRT7(0.5),SLC16A3(0.5),SLC38A10(0.5),TBC1D16(0.5),CHMP6(0.5),RFNG(0.5),CARD14(0.49),CCDC137(0.49),DUS1L(0.49),RAB40B(0.48),FN3K(0.47),LRRC45(0.44),FASTKD3(0.41),SECTM1(0.38),RNF213(0.37),CCDC40(0.36),FSCN2(0.36),ZNF750(0.36),AATK(0.33),ADCY2(0.33),CCDC57(0.33),ENDOV(0.33),MYADML2(0.33),PDE6G(0.33),PPP1R27(0.33),TSPAN10(0.33),B3GNTL1(0.29),CD7(0.25),TEX19(0.25),UTS2R(0.25),C5orf49(0.13),ALYREF(0),CENPX(0),CEP131(0),CYBC1(0),FAAP100(0),HEXD(0),MCRIP1(0),MRPL12(0),NDUFAF8(0),OGFOD3(0),OXLD1(0),PVALEF(0),TEPSIN(0),WDR45B(0) |
| NIJ6 | neurodevelopmental | 0.87 | Yes | CAMK2G,KAT6B | CAMK2G(0.87),KAT6B(0.83),KLHL29(0.65),VDAC2(0.61),ADK(0.6),AP3M1(0.5),DUSP13(0.5),SAMD8(0.5),VCL(0.49),COMTD1(0.47),PLAU(0.38),DUSP29(0) |
| NIJ9 | neurodevelopmental | 0.88 | Yes | PRKAR1A | PRKAR1A(0.88),TIMP3(0.74),DEPDC5(0.68),BPIFC(0.67),PISD(0.65),KPNA2(0.63),EIF4ENIF1(0.62),YWHAH(0.61),ABCA9(0.5),ARSG(0.5),PRR14L(0.5),SYN3(0.5),AMZ2(0.5),C17orf58(0.5),SLC5A1(0.38),FBXO7(0.37),FAM20A(0.36),ABCA10(0.33),ABCA6(0.33),ABCA8(0.33),SLC16A6(0.33),WIPI1(0.33),RFPL3(0.33),SFI1(0.26),C22orf24(0.25),C22orf42(0.25),RFPL2(0.25),SLC5A4(0.25),ABCA5(0.17),RTCB(0) |
| NIJ10 | neurodevelopmental | 0.88 | Yes | CASK,CIC,MEGF8,MAOA,ERF,POU2F2 | CASK(0.88),CIC(0.88),MEGF8(0.87),MAOA(0.83),ERF(0.83),POU2F2(0.82),GSK3A(0.75),TMEM145(0.63),DEDD2(0.5),GPR82(0.5),NYX(0.5),PAFAH1B3(0.5),PRR19(0.5),LIPE(0.5),CEACAM1(0.5),PSG3(0.5),PSG8(0.5),PSG1(0.38),PSG4(0.38),PSG6(0.38),PSG7(0.38),PSG9(0.38),GPR34(0.33),ZNF526(0.33),CEACAM8(0.33),CNFN(0.33),CXCL17(0.33),CD177(0.25),PSG11(0.25),PSG2(0.25),PSG5(0.25),TEX101(0.25),PPP1R2C(0) |
| NIJ12 | neurodevelopmental | 1 | Yes | SATB2 | SATB2(1),NCK2(0.5),TGFBRAP1(0.44),C2orf49(0.4),RGPD3(0.33),UXS1(0.33),FHL2(0.01),CD8B2(0),ECRG4(0),FTCDNL1(0) |
| NIJ14 | neurodevelopmental | 1 | Yes | NFIA | NFIA(1),PRKACB(0.74),SSX2IP(0.52),RPF1(0.48),GNG5(0.42),C1orf87(0.38),CTBS(0.33),DNASE2B(0.33),LPAR3(0.33),SAMD13(0.33),SPATA1(0.33),TTLL7(0.32),TM2D1(0.3),PATJ(0) |
| NIJ15 | neurodevelopmental | 1 | Yes | MYT1L,BPTF,PSMD12 | MYT1L(1),BPTF(0.88),PSMD12(0.84),RPS7(0.75),PITPNC1(0.62),COLEC11(0.62),ACP1(0.61),PXDN(0.58),CACNG4(0.5),CACNG5(0.5),NOL11(0.5),SNTG2(0.49),HELZ(0.49),FAM110C(0.49),RNASEH1(0.48),TMEM18(0.47),DCDC2C(0.38),TPO(0.38),CACNG1(0.33),ADI1(0.33),SH3YL1(0.29),ALLC(0.25),ALKAL2(0),EIPR1(0),TRAPPC12(0) |
| NIJ16 | neurodevelopmental | 1 | Yes | MYT1L | MYT1L(1),RPS7(0.75),CHST15(0.63),OAT(0.63),COLEC11(0.62),ACP1(0.61),PXDN(0.58),CPXM2(0.5),SNTG2(0.49),FAM110C(0.49),RNASEH1(0.48),TMEM18(0.47),DCDC2C(0.38),TPO(0.38),ADI1(0.33),SH3YL1(0.29),ALLC(0.25),ALKAL2(0),EIPR1(0),TRAPPC12(0) |
| NIJ18 | neurodevelopmental | 0.83 | Yes | PROX1 | PROX1(0.83),IGFBP7(0.5) |
| NIJ20 | neurodevelopmental | 1 | Yes | SIX3,PREPL | SIX3(1),PREPL(0.82),PITX2(0.63),SIX2(0.5),CAMKMT(0.17) |
| UTR5 | neurodevelopmental | 0.98 | Yes | POU3F3,EBF1 | POU3F3(0.98),EBF1(0.83),THG1L(0.67),CLINT1(0.62),RNF145(0.62),LSM11(0.5),MRPS9(0.38),GPR45(0.37) |
| UTR7 | neurodevelopmental | 1 | Yes | NFIX,GABRG2 | NFIX(1),GABRG2(0.83),GABRA1(0.79),CCNG1(0.61) |
| UTR8 | neurodevelopmental | 0.88 | Yes | ZMYND11,SOX9,WDR37 | ZMYND11(0.88),SOX9(0.84),WDR37(0.83),IDI1(0.74),DIP2C(0.63),PITRM1(0.63),KLF6(0.62),ADARB2(0.62),PFKP(0.61),GTPBP4(0.57),LARP4B(0.57),IDI2(0.3),AKR1E2(0.25),TUBB8(0) |
| UTR10 | neurodevelopmental | 0.87 | Yes | UGP2 | UGP2(0.87),CELF2(0.63),USP6NL(0.62),PELI1(0.61),VPS54(0.55),ECHDC3(0.27),PROSER2(0) |
| UTR12 | neurodevelopmental | 0.83 | Yes | DYRK1A | DYRK1A(0.83),SIRT2(0.63),MRPS12(0.63),HNRNPL(0.62),TTC3(0.61),ACTN4(0.5),ECH1(0.5),EIF3K(0.5),PIGP(0.5),MAP4K1(0.48),CAPN12(0.4),FBXO17(0.33),NFKBIB(0.3),RINL(0.28),LGALS4(0.25),LGALS7(0.25),LGALS7B(0.25),CCER2(0),SARS2(0),VPS26C(0) |
| UTR18 | neurodevelopmental | 0.83 | Yes | GRM7 | GRM7(0.83),CYP4B1(0.67),DMBX1(0.67),FOXE3(0.67),STIL(0.67),CAV3(0.66),CMPK1(0.5),CYP4X1(0.5),FOXD2(0.5),KNCN(0.5),OXTR(0.5),TAL1(0.5),ATPAF1(0.43),CYP4A11(0.33),CYP4A22(0.33),CYP4Z1(0.33),LMCD1(0.33),MKNK1(0.33),MOB3C(0.33),PDZK1IP1(0.33),EFCAB14(0),SSUH2(0),TEX38(0),TMEM275(0),TRABD2B(0) |
| UTR21 | neurodevelopmental | 0.82 | Yes | NSD1 | NSD1(0.82),DBN1(0.75),UNC5A(0.74),SNCB(0.63),PRELID1(0.61),GRK6(0.6),FAM193B(0.6),DDX41(0.5),GPRIN1(0.5),LMAN2(0.5),RAB24(0.5),MXD3(0.5),TSPAN17(0.5),PRR7(0.48),UIMC1(0.46),PDLIM7(0.43),ZNF346(0.41),PFN3(0.38),RGS14(0.38),EIF4E1B(0.38),F12(0.38),SLC34A1(0.38),FGFR4(0.37),DOK3(0.25),HK3(0.25),AKR1D1(0.17) |
| U101 | neurodevelopmental | 0.88 | Yes | NXN,PAFAH1B1 | NXN(0.88),PAFAH1B1(0.83),ABR(0.75),DPH1(0.75),RTN4RL1(0.75),PITPNA(0.75),SMG6(0.75),MNT(0.75),INPP5K(0.74),SRR(0.73),GEMIN4(0.69),VPS53(0.65),PRPF8(0.63),TIMM22(0.63),DOC2B(0.63),CRK(0.62),YWHAE(0.62),RPA1(0.62),TSR1(0.61),WDR81(0.55),HIC1(0.51),GLOD4(0.5),OVCA2(0.5),SGSM2(0.5),SLC43A2(0.5),METTL16(0.47),SERPINF1(0.41),C17orf97(0.4),SMYD4(0.4),BHLHA9(0.36),MYO1C(0.35),SCARF1(0.26),RILP(0.25),RPH3AL(0.25),SERPINF2(0.25),TLCD2(0.25),CLUH(0),MRM3(0),RFLNB(0),TLCD3A(0),TRARG1(0) |
| U102 | neurodevelopmental | 0.88 | Yes | CHD3,KDM6B,ALOX12B,ALOXE3,DLG4,GUCY2D,POLR2A,SLC13A5 | CHD3(0.88),KDM6B(0.88),ALOX12B(0.83),ALOXE3(0.83),DLG4(0.83),GUCY2D(0.83),POLR2A(0.83),SLC13A5(0.83),VAMP2(0.75),TP53(0.72),FXR2(0.67),MPDU1(0.67),NEURL4(0.67),SENP3(0.67),TMEM107(0.67),NLGN2(0.67),ZBTB4(0.67),DERL2(0.65),TRAPPC1(0.63),RPAIN(0.63),PER1(0.62),RABEP1(0.62),NUP88(0.62),CYB5D1(0.54),ALOX15B(0.5),ATP1B2(0.5),CNTROB(0.5),EFNB3(0.5),EIF4A1(0.5),FBXO39(0.5),HES7(0.5),RANGRF(0.5),TEKT1(0.5),XAF1(0.5),PHF23(0.5),CTDNEP1(0.5),ACADVL(0.5),C1QBP(0.5),NLRP1(0.5),TXNDC17(0.5),WSCD1(0.5),DVL2(0.49),EIF5A(0.48),MED31(0.46),AURKB(0.45),PFAS(0.44),C17orf100(0.43),PITPNM3(0.42),MIS12(0.41),KIAA0753(0.4),FGF11(0.39),DHX33(0.36),AIPL1(0.33),C17orf49(0.33),CTC1(0.33),GABARAP(0.33),GPS2(0.33),KCNAB3(0.33),NAA38(0.33),RNASEK(0.33),SAT2(0.33),SLC25A35(0.33),TMEM88(0.33),ASGR1(0.33),PLSCR3(0.33),CHRNB1(0.31),TNFSF12(0.24),TNFSF12-TNFSF13(0.22),SOX15(0.19),CLDN7(0.17),DNAH2(0.17),SLC16A11(0.17),TMEM102(0.17),TNK1(0.17),YBX2(0.16),CD68(0.16),TNFSF13(0.15),KCTD11(0.13),WRAP53(0.11),BCL6B(0.01),ACAP1(0),ALOX12(0),ASGR2(0),BORCS6(0),CLEC10A(0),ELP5(0),LOC100996842(0),LOC728392(0),PIMREG(0),RNF227(0),SHBG(0),SLC16A13(0),SLC2A4(0),SLC35G6(0),SPEM1(0),SPEM2(0),SPEM3(0),TMEM256(0),TMEM95(0) |
| U104 | neurodevelopmental | 0.83 | Yes | RAI1,TOP3A | RAI1(0.83),TOP3A(0.83),ATPAF2(0.67),FLCN(0.67),ALDH3A2(0.67),MAPK7(0.66),MPRIP(0.65),DRG2(0.5),MYO15A(0.5),NCOR1(0.5),RASD1(0.5),RNF112(0.5),TOM1L2(0.5),ULK2(0.5),ALKBH5(0.5),USP22(0.5),COPS3(0.49),TRIM16L(0.42),B9D1(0.39),UBB(0.38),AKAP10(0.33),EPN2(0.33),FLII(0.33),LLGL1(0.33),MED9(0.33),NT5M(0.33),PEMT(0.33),PLD6(0.33),PRPSAP2(0.33),SMCR8(0.33),SREBF1(0.33),TNFRSF13B(0.33),PIGL(0.27),CENPV(0.25),TMEM11(0.25),SPECC1(0.21),ZNF287(0.2),SLC47A1(0.19),FOXO3B(0.17),SLC47A2(0.17),DHRS7B(0.14),KCNJ12(0.13),MFAP4(0.1),ZNF624(0.06),MAP2K3(0.03),GRAP(0.01),SHMT1(0.01),ALDH3A1(0),CCDC144A(0),CDRT15L2(0),DRC3(0),EVPLL(0),FAM106A(0),FAM106B(0),FAM106C(0),FAM83G(0),FBXW10(0),GID4(0),GRAPL(0),LGALS9B(0),LGALS9C(0),LRRC75A(0),MIEF2(0),MTRNR2L1(0),NATD1(0),SLC5A10(0),TBC1D28(0),TRPV2(0),TVP23B(0) |
| U105 | neurodevelopmental | 0.83 | Yes | RAB11FIP4 | RAB11FIP4(0.83),SUZ12(0.75),RHOT1(0.75),NF1(0.69),SLC6A4(0.67),RHBDL3(0.56),BLMH(0.5),LRRC37B(0.49),CPD(0.4),GOSR1(0.34),TMIGD1(0.33),CRLF3(0.29),OMG(0.23),ADAP2(0.17),ATAD5(0.17),RNF135(0.17),UTP6(0.15),COPRS(0),EVI2A(0),EVI2B(0),LOC107984974(0),TEFM(0) |
| U112.1 | neurodevelopmental | 1 | Yes | APC2,LMNB2,MAP2K2 | APC2(1),LMNB2(0.88),MAP2K2(0.86),AP3D1(0.75),ATCAY(0.75),CELF5(0.75),FZR1(0.75),BTBD2(0.75),GNA11(0.75),WDR18(0.74),PIP5K1C(0.73),GAMT(0.67),STK11(0.67),NDUFS7(0.67),EFNA2(0.65),DAPK3(0.63),GNG7(0.63),PTBP1(0.63),SIRT6(0.63),TIMM13(0.63),DOT1L(0.63),THOP1(0.63),NFIC(0.63),EEF2(0.62),PIAS4(0.62),CSNK1G2(0.62),HCN2(0.61),MIER2(0.57),TLE2(0.53),CHAF1A(0.52),MATK(0.51),ADAT3(0.5),BSG(0.5),CDC34(0.5),DAZAP1(0.5),DIRAS1(0.5),FSD1(0.5),GPX4(0.5),KISS1R(0.5),LSM7(0.5),MED16(0.5),MPND(0.5),MRPL54(0.5),OAZ1(0.5),PALM(0.5),PLEKHJ1(0.5),RNF126(0.5),SF3A2(0.5),SGTA(0.5),SH3GL1(0.5),UBXN6(0.5),MOB3A(0.5),ONECUT3(0.5),DOHH(0.5),MKNK2(0.5),NCLN(0.5),SHC2(0.5),MBD3(0.49),C2CD4C(0.48),REXO1(0.45),SLC39A3(0.43),POLRMT(0.4),ATP8B3(0.38),ELANE(0.38),FGF22(0.38),GIPC3(0.38),GRIN3B(0.38),JSRP1(0.38),LINGO3(0.38),ODF3L2(0.38),PRTN3(0.38),SHD(0.38),TJP3(0.38),TLE6(0.38),TMPRSS9(0.38),SCAMP4(0.37),KLF16(0.34),ZNF554(0.34),ADAMTSL5(0.33),CIRBP(0.33),MEX3D(0.33),MIDN(0.33),POLR2E(0.33),RPS15(0.33),TCF3(0.33),UQCR11(0.33),ZNF555(0.33),HMG20B(0.33),C19orf25(0.33),APBA3(0.32),CNN2(0.32),ANKRD24(0.32),C19orf71(0.31),ZNF77(0.29),GADD45B(0.29),FSTL3(0.28),ZBTB7A(0.28),ZFR2(0.28),ZNF57(0.27),AZU1(0.27),STAP2(0.26),AMH(0.25),ARID3A(0.25),CFD(0.25),CREB3L3(0.25),EBI3(0.25),GNA15(0.25),GZMM(0.25),IZUMO4(0.25),MADCAM1(0.25),OR4F17(0.25),PRSS57(0.25),RAX2(0.25),S1PR4(0.25),TBXA2R(0.25),THEG(0.25),TMIGD2(0.25),ZNF556(0.25),REEP6(0.2),ABCA7(0.17),SBNO2(0.07),ABHD17A(0),ARHGAP45(0),ATP5F1D(0),CACTIN(0),CBARP(0),FAM174C(0),HDGFL2(0),MFSD12(0),MISP(0),NMRK2(0),PCSK4(0),PEAK3(0),PLK5(0),PLPP2(0),PLPPR3(0),PWWP3A(0),R3HDM4(0),SMIM24(0),SPPL2B(0),TLE5(0),TMEM259(0),TPGS1(0),YJU2(0) |
| U112.2 | neurodevelopmental | 1 | Yes | EEF1A2,KCNQ2 | EEF1A2(1),KCNQ2(0.88),CDH4(0.75),SS18L1(0.74),PRPF6(0.73),ZNF512B(0.7),CHRNA4(0.66),SOX18(0.63),NTSR1(0.63),ADRM1(0.63),DNAJC5(0.63),TCEA2(0.63),YTHDF1(0.63),OPRL1(0.62),PSMA7(0.62),MYT1(0.61),DIDO1(0.52),HRH3(0.5),LSM14B(0.5),PCMTD2(0.5),PPDPF(0.5),RPS21(0.5),STMN3(0.5),TPD52L2(0.5),OSBPL2(0.5),CABLES2(0.49),NKAIN4(0.48),SAMD10(0.47),ARFGAP1(0.47),TAF4(0.45),OGFR(0.41),UCKL1(0.4),ARFRP1(0.39),RGS19(0.39),BHLHE23(0.38),COL20A1(0.38),GATA5(0.38),SLC17A9(0.38),SLCO4A1(0.38),ZBTB46(0.35),TNFRSF6B(0.3),ZGPAT(0.3),TCFL5(0.29),GMEB2(0.27),LAMA5(0.25),ABHD16B(0.25),BIRC7(0.25),CDH26(0.25),COL9A3(0.25),DPH3P1(0.25),LIME1(0.25),NPBWR2(0.25),PTK6(0.25),SLC2A4RG(0.25),SRMS(0.25),C20orf204(0),FNDC11(0),GID8(0),HELZ2(0),LKAAEAR1(0),MIR1-1HG(0),MRGBP(0),MTG2(0),RBBP8NL(0),RTEL1(0) |
| U116 | neurodevelopmental | 0.88 | Yes | PPP2R1A | PPP2R1A(0.88),CNOT3(0.78),CACNG8(0.69),CACNG7(0.63),PRPF31(0.62),PRKCG(0.52),NDUFA3(0.5),TFPT(0.5),HAS1(0.49),ZNF83(0.46),MYADM(0.44),LENG1(0.44),ZNF320(0.43),ZNF415(0.39),ZNF160(0.39),ZNF649(0.38),CACNG6(0.38),FPR2(0.38),FPR3(0.38),ZNF614(0.37),ZNF616(0.36),ZNF28(0.36),ZNF766(0.36),ZNF468(0.35),ZNF841(0.34),ZNF845(0.33),ZNF350(0.33),ZNF836(0.33),ZNF611(0.33),ZNF610(0.32),ZNF615(0.32),ZNF528(0.32),ZNF432(0.3),ZNF761(0.3),ZNF480(0.3),ZNF880(0.3),ZNF613(0.29),ZNF331(0.29),ZNF347(0.28),ZNF765(0.26),ZNF577(0.26),ZNF808(0.26),ZNF525(0.25),ZNF813(0.25),ZNF701(0.25),DPRX(0.25),FPR1(0.25),NLRP12(0.25),TARM1(0.25),TMC4(0.25),VN1R2(0.25),VN1R4(0.25),VSTM1(0.25),ZNF534(0.25),ZNF600(0.25),ZNF665(0.25),ZNF677(0.25),ZNF816(0.25),ZNF816-ZNF321P(0.25),OSCAR(0.17),ERVV-1(0),ERVV-2(0),ZNF578(0),ZNF765-ZNF761(0),ZNF888(0) |
| U118 | neurodevelopmental | 0.87 | Yes | SNRPB,CSNK2A1 | SNRPB(0.87),CSNK2A1(0.83),ATRN(0.75),ITPA(0.75),PTPRA(0.75),VPS16(0.75),PSMF1(0.74),TBC1D20(0.74),EBF4(0.73),CPXM1(0.72),SCRT2(0.67),SNPH(0.64),FKBP1A(0.63),IDH3B(0.63),CENPB(0.62),NOP56(0.62),STK35(0.62),SIRPA(0.62),RNF24(0.61),RBCK1(0.59),PANK2(0.58),FASTKD5(0.56),ADRA1D(0.5),C20orf194(0.5),C20orf27(0.5),DDRGK1(0.5),FAM110A(0.5),MRPS26(0.5),NSFL1C(0.5),OXT(0.5),PDYN(0.5),TCF15(0.49),SOX12(0.49),ZNF343(0.41),HSPA12B(0.4),TMC2(0.39),ADAM33(0.38),AVP(0.38),GFRA4(0.38),RSPO4(0.38),SIRPB2(0.38),SLC4A11(0.38),SMOX(0.38),CDC25B(0.36),C20orf96(0.33),NRSN2(0.33),ZCCHC3(0.33),MAVS(0.33),UBOX5(0.31),SDCBP2(0.29),ANGPT4(0.25),C20orf141(0.25),C20orf202(0.25),GNRH2(0.25),RAD21L1(0.25),SIGLEC1(0.25),SIRPB1(0.25),SIRPD(0.25),SIRPG(0.25),SPEF1(0.25),TGM3(0.25),TGM6(0.25),TMEM239(0.25),SRXN1(0.21),DEFB125(0.17),DEFB126(0.17),DEFB128(0.17),DEFB132(0.17),TRIB3(0.13),AP5S1(0),DEFB127(0),DEFB129(0),LZTS3(0),PCED1A(0),SLC52A3(0),TMEM74B(0) |
| U12.1 | neurodevelopmental | 0.86 | Yes | ADAR,GATAD2B | ADAR(0.86),GATAD2B(0.83),DPM3(0.75),EFNA3(0.75),UBE2Q1(0.75),KCNN3(0.74),PYGO2(0.74),INTS3(0.69),HAX1(0.67),TPM3(0.67),CHRNB2(0.63),CHTOP(0.63),ILF2(0.63),EFNA1(0.54),PMVK(0.5),SNAPIN(0.5),UBAP2L(0.5),SHC1(0.45),FLAD1(0.44),S100A16(0.43),DENND4B(0.4),EFNA4(0.38),S100A1(0.38),SHE(0.38),TDRD10(0.38),ADAM15(0.35),C1orf43(0.33),JTB(0.33),RPS27(0.33),PBXIP1(0.33),SLC39A1(0.33),S100A13(0.32),CRTC2(0.29),SLC50A1(0.28),ATP8B2(0.28),CKS1B(0.26),DCST1(0.25),DCST2(0.25),LENEP(0.25),NPR1(0.25),S100A14(0.25),ZBTB7B(0.25),IL6R(0.17),CREB3L4(0.09),SLC27A3(0.06),RAB13(0.04),AQP10(0),C1orf189(0),LOC101928120(0),NUP210L(0) |
| U124 | neurodevelopmental | 0.83 | Yes | DGCR8 | DGCR8(0.83),DGCR2(0.75),SLC25A1(0.75),ARVCF(0.75),LZTR1(0.67),GP1BB(0.63),PRODH(0.63),TBX1(0.63),HIRA(0.62),COMT(0.59),DGCR6(0.57),RANBP1(0.55),CDC45(0.51),C22orf39(0.5),MRPL40(0.5),P2RX6(0.5),PI4KA(0.5),CLDN5(0.5),SNAP29(0.5),ZDHHC8(0.5),RTN4R(0.5),CRKL(0.49),TRMT2A(0.39),GSC2(0.38),UBE2L3(0.38),TSSK2(0.35),DGCR6L(0.33),KLHL22(0.33),SLC7A4(0.33),THAP7(0.33),ZNF74(0.33),MED15(0.31),CLTCL1(0.29),TXNRD2(0.28),GNB1L(0.26),YDJC(0.23),SDF2L1(0.21),AIFM3(0.17),GGTLC3(0.17),SCARF2(0.17),HIC2(0.17),SERPIND1(0.08),CCDC116(0),CCDC188(0),ESS2(0),GGT2(0),LRRC74B(0),RIMBP3(0),RIMBP3B(0),RIMBP3C(0),RTL10(0),SEPTIN5(0),TANGO2(0),TMEM191B(0),TMEM191C(0),UFD1(0) |
| U129 | neurodevelopmental | 0.83 | Yes | DGCR8 | DGCR8(0.83),DGCR2(0.75),SLC25A1(0.75),ARVCF(0.75),LZTR1(0.67),GP1BB(0.63),PRODH(0.63),TBX1(0.63),HIRA(0.62),COMT(0.59),DGCR6(0.57),RANBP1(0.55),CDC45(0.51),C22orf39(0.5),MRPL40(0.5),P2RX6(0.5),PI4KA(0.5),CLDN5(0.5),SNAP29(0.5),ZDHHC8(0.5),RTN4R(0.5),CRKL(0.49),TRMT2A(0.39),GSC2(0.38),UBE2L3(0.38),TSSK2(0.35),DGCR6L(0.33),KLHL22(0.33),SLC7A4(0.33),THAP7(0.33),ZNF74(0.33),MED15(0.31),CLTCL1(0.29),TXNRD2(0.28),GNB1L(0.26),YDJC(0.23),SDF2L1(0.21),AIFM3(0.17),GGTLC3(0.17),SCARF2(0.17),HIC2(0.17),SERPIND1(0.08),CCDC116(0),CCDC188(0),ESS2(0),GGT2(0),LRRC74B(0),RIMBP3(0),RIMBP3B(0),RIMBP3C(0),RTL10(0),SEPTIN5(0),TANGO2(0),TMEM191B(0),TMEM191C(0),UFD1(0) |
| U130 | neurodevelopmental | 0.83 | Yes | DGCR8 | DGCR8(0.83),DGCR2(0.75),SLC25A1(0.75),ARVCF(0.75),LZTR1(0.67),GP1BB(0.63),PRODH(0.63),TBX1(0.63),HIRA(0.62),COMT(0.59),DGCR6(0.57),RANBP1(0.55),CDC45(0.51),C22orf39(0.5),MRPL40(0.5),P2RX6(0.5),PI4KA(0.5),CLDN5(0.5),SNAP29(0.5),ZDHHC8(0.5),RTN4R(0.5),CRKL(0.49),TRMT2A(0.39),GSC2(0.38),UBE2L3(0.38),TSSK2(0.35),DGCR6L(0.33),KLHL22(0.33),SLC7A4(0.33),THAP7(0.33),ZNF74(0.33),MED15(0.31),CLTCL1(0.29),TXNRD2(0.28),GNB1L(0.26),YDJC(0.23),SDF2L1(0.21),AIFM3(0.17),GGTLC3(0.17),SCARF2(0.17),HIC2(0.17),SERPIND1(0.08),CCDC116(0),CCDC188(0),ESS2(0),GGT2(0),LRRC74B(0),RIMBP3(0),RIMBP3B(0),RIMBP3C(0),RTL10(0),SEPTIN5(0),TANGO2(0),TMEM191B(0),TMEM191C(0),UFD1(0) |
| U134 | neurodevelopmental | 0.83 | Yes | DGCR8 | DGCR8(0.83),DGCR2(0.75),SLC25A1(0.75),ARVCF(0.75),LZTR1(0.67),GP1BB(0.63),PRODH(0.63),TBX1(0.63),HIRA(0.62),COMT(0.59),RANBP1(0.55),CDC45(0.51),C22orf39(0.5),MRPL40(0.5),P2RX6(0.5),PI4KA(0.5),CLDN5(0.5),SNAP29(0.5),ZDHHC8(0.5),RTN4R(0.5),CRKL(0.49),DGCR6(0.43),TRMT2A(0.39),GSC2(0.38),UBE2L3(0.38),TSSK2(0.35),DGCR6L(0.33),KLHL22(0.33),SLC7A4(0.33),THAP7(0.33),ZNF74(0.33),MED15(0.31),CLTCL1(0.29),TXNRD2(0.28),GNB1L(0.26),YDJC(0.23),SDF2L1(0.21),AIFM3(0.17),GGTLC3(0.17),SCARF2(0.17),HIC2(0.17),SERPIND1(0.08),CCDC116(0),CCDC188(0),ESS2(0),GGT2(0),LRRC74B(0),RIMBP3(0),RIMBP3B(0),RIMBP3C(0),RTL10(0),SEPTIN5(0),TANGO2(0),TMEM191B(0),TMEM191C(0),UFD1(0) |
| U136 | neurodevelopmental | 0.83 | Yes | MAPK1 | MAPK1(0.83),SNAP29(0.67),SMARCB1(0.63),LZTR1(0.55),PI4KA(0.5),PPM1F(0.5),UBE2L3(0.5),CRKL(0.49),GNAZ(0.49),TOP3B(0.48),PPIL2(0.48),BCR(0.38),SERPIND1(0.33),YPEL1(0.33),YDJC(0.31),CHCHD10(0.3),SDF2L1(0.28),KLHL22(0.25),MIF(0.25),MMP11(0.24),MED15(0.24),HIC2(0.23),THAP7(0.23),AIFM3(0.17),P2RX6(0.17),GGTLC2(0.13),IGLL5(0.13),VPREB1(0.13),ZNF70(0.06),RAB36(0.05),ZNF280B(0.01),C22orf15(0),CCDC116(0),DERL3(0),DRICH1(0),GGT2(0),IGLL1(0),LRRC74B(0),PRAME(0),RGL4(0),RIMBP3B(0),RIMBP3C(0),RSPH14(0),SLC2A11(0),SLC7A4(0),TMEM191C(0),VPREB3(0),ZNF280A(0) |
| U138 | neurodevelopmental | 1 | Yes | TCF20 | TCF20(1),NDUFA6(0.67),POLDIP3(0.5),SREBF2(0.5),RRP7A(0.46),NAGA(0.45),CCDC134(0.39),SHISA8(0.33),MEI1(0.25),NFAM1(0.25),SERHL2(0.25),CENPM(0.05),ATP5MGL(0),CYP2D6(0),PHETA2(0),SEPTIN3(0),SMDT1(0),SNU13(0),TNFRSF13C(0),WBP2NL(0) |
| U139 | neurodevelopmental | 0.83 | Yes | MAPK8IP2,SBF1 | MAPK8IP2(0.83),SBF1(0.82),PHF21B(0.68),SCO2(0.67),SHANK3(0.64),CHKB(0.61),MLC1(0.6),TUBGCP6(0.58),CERK(0.5),GRAMD4(0.5),BRD1(0.5),PLXNB2(0.5),ZBED4(0.5),FBLN1(0.5),MAPK11(0.5),ARSA(0.5),NCAPH2(0.49),PPP6R2(0.48),PPARA(0.48),ALG12(0.48),PIM3(0.48),RABL2B(0.46),PRR5(0.46),WNT7B(0.41),CELSR1(0.35),ATXN10(0.33),KIAA0930(0.33),ODF3B(0.33),NUP50(0.33),PARVB(0.33),TRABD(0.33),TYMP(0.32),LMF2(0.31),PRR5-ARHGAP8(0.25),CPT1B(0.24),TBC1D22A(0.23),ARHGAP8(0.2),C22orf34(0.17),IL17REL(0.17),KLHDC7B(0.17),PKDREJ(0.17),SMC1B(0.17),SYCE3(0.15),MAPK12(0.13),HDAC10(0.13),PANX2(0.12),CRELD2(0.11),TTC38(0.05),FAM118A(0.04),GTSE1(0.04),TRMU(0.04),ACR(0),ADM2(0),CDPF1(0),DENND6B(0),MIOX(0),MOV10L1(0),PARVG(0),RIBC2(0),RTL6(0),SELENOO(0),SHISAL1(0),TAFA5(0),TTLL8(0),UPK3A(0) |
| U140 | neurodevelopmental | 0.83 | Yes | MAPK8IP2,SBF1 | MAPK8IP2(0.83),SBF1(0.82),SCO2(0.67),SHANK3(0.64),CHKB(0.61),MLC1(0.6),TUBGCP6(0.58),PHF21B(0.51),CERK(0.5),GRAMD4(0.5),BRD1(0.5),PLXNB2(0.5),ZBED4(0.5),FBLN1(0.5),MAPK11(0.5),ARSA(0.5),NCAPH2(0.49),PPP6R2(0.48),PPARA(0.48),ALG12(0.48),PIM3(0.48),RABL2B(0.46),WNT7B(0.41),CELSR1(0.35),ATXN10(0.33),KIAA0930(0.33),ODF3B(0.33),NUP50(0.33),TRABD(0.33),TYMP(0.32),LMF2(0.31),CPT1B(0.24),TBC1D22A(0.23),C22orf34(0.17),IL17REL(0.17),KLHDC7B(0.17),PKDREJ(0.17),SMC1B(0.17),SYCE3(0.15),MAPK12(0.13),HDAC10(0.13),PANX2(0.12),CRELD2(0.11),TTC38(0.05),FAM118A(0.04),GTSE1(0.04),TRMU(0.04),ACR(0),ADM2(0),CDPF1(0),DENND6B(0),MIOX(0),MOV10L1(0),RIBC2(0),SELENOO(0),TAFA5(0),TTLL8(0),UPK3A(0) |
| U141 | neurodevelopmental | 0.83 | Yes | MAPK8IP2,SBF1 | MAPK8IP2(0.83),SBF1(0.82),MLC1(0.7),TUBGCP6(0.69),SCO2(0.67),SHANK3(0.64),CERK(0.63),MAPK11(0.63),BRD1(0.62),PLXNB2(0.62),ZBED4(0.62),ALG12(0.61),PIM3(0.61),CHKB(0.61),TRABD(0.5),ARSA(0.5),NCAPH2(0.49),PPP6R2(0.48),TBC1D22A(0.42),C22orf34(0.38),IL17REL(0.38),MAPK12(0.35),CRELD2(0.34),PANX2(0.34),HDAC10(0.34),ODF3B(0.33),TYMP(0.32),LMF2(0.31),RABL2B(0.28),MOV10L1(0.25),TTLL8(0.25),CPT1B(0.24),KLHDC7B(0.17),SYCE3(0.15),ACR(0),ADM2(0),DENND6B(0),MIOX(0),SELENOO(0),TAFA5(0) |
| U142 | neurodevelopmental | 0.87 | Yes | SBF1,MAPK8IP2 | SBF1(0.87),MAPK8IP2(0.83),MLC1(0.7),TUBGCP6(0.69),SCO2(0.67),SHANK3(0.64),CERK(0.63),MAPK11(0.63),BRD1(0.62),PLXNB2(0.62),ZBED4(0.62),PPP6R2(0.61),ALG12(0.61),PIM3(0.61),CHKB(0.61),TRABD(0.5),ARSA(0.5),NCAPH2(0.49),LMF2(0.48),TBC1D22A(0.42),C22orf34(0.38),IL17REL(0.38),MAPK12(0.35),CRELD2(0.34),PANX2(0.34),HDAC10(0.34),ODF3B(0.33),TYMP(0.32),RABL2B(0.28),ADM2(0.25),MIOX(0.25),MOV10L1(0.25),TTLL8(0.25),CPT1B(0.24),KLHDC7B(0.17),SYCE3(0.15),ACR(0),DENND6B(0),SELENOO(0),TAFA5(0) |
| U15 | neurodevelopmental | 1 | Yes | NRXN1 | NRXN1(1) |
| U152 | neurodevelopmental | 1 | Yes | PCDH19 | PCDH19(1),TSPAN6(0.38),SRPX2(0.37),TNMD(0) |
| U153 | neurodevelopmental | 0.88 | Yes | FLNA,MECP2,HCFC1,RPL10 | FLNA(0.88),MECP2(0.85),HCFC1(0.83),RPL10(0.82),L1CAM(0.75),NAA10(0.67),EMD(0.63),RAB39B(0.63),GDI1(0.62),FAM50A(0.62),BCAP31(0.61),DKC1(0.59),SLC6A8(0.55),TKTL1(0.51),ATP6AP1(0.5),AVPR2(0.5),LAGE3(0.5),SSR4(0.5),ARHGAP4(0.5),RENBP(0.49),IRAK1(0.46),IKBKG(0.38),PLXNA3(0.37),G6PD(0.37),IDH3G(0.37),PDZD4(0.37),OPN1LW(0.36),TMEM187(0.33),MPP1(0.32),TMLHE(0.28),ABCD1(0.28),CLIC2(0.25),OPN1MW(0.25),OPN1MW2(0.25),UBL4A(0.25),VBP1(0.25),PNCK(0.21),BRCC3(0.17),TAZ(0.17),DNASE1L1(0.15),DUSP9(0.13),F8(0.13),SRPK3(0.13),GAB3(0.12),FUNDC2(0.12),FAM3A(0.09),F8A1(0.05),SLC10A3(0.05),MTCP1(0.02),CMC4(0),CTAG1A(0),CTAG1B(0),CTAG2(0),F8A2(0),F8A3(0),H2AB1(0),H2AB2(0),H2AB3(0),PLXNB3(0),SMIM9(0) |
| U154.1 | neurodevelopmental | 0.88 | Yes | FLNA,MECP2,HCFC1,RPL10 | FLNA(0.88),MECP2(0.85),HCFC1(0.83),RPL10(0.82),L1CAM(0.75),NAA10(0.67),EMD(0.63),RAB39B(0.63),GDI1(0.62),FAM50A(0.62),BCAP31(0.61),DKC1(0.59),SLC6A8(0.55),TKTL1(0.51),ATP6AP1(0.5),LAGE3(0.5),SSR4(0.5),RENBP(0.49),IRAK1(0.46),AVPR2(0.38),IKBKG(0.38),PLXNA3(0.37),G6PD(0.37),IDH3G(0.37),PDZD4(0.37),OPN1LW(0.36),TMEM187(0.33),MPP1(0.32),TMLHE(0.28),ABCD1(0.28),CLIC2(0.25),OPN1MW(0.25),OPN1MW2(0.25),UBL4A(0.25),VBP1(0.25),ARHGAP4(0.23),PNCK(0.21),BRCC3(0.17),TAZ(0.17),DNASE1L1(0.15),DUSP9(0.13),F8(0.13),SRPK3(0.13),GAB3(0.12),FUNDC2(0.12),FAM3A(0.09),F8A1(0.05),SLC10A3(0.05),MTCP1(0.02),CMC4(0),CTAG1A(0),CTAG1B(0),CTAG2(0),F8A2(0),F8A3(0),H2AB1(0),H2AB2(0),H2AB3(0),PLXNB3(0),SMIM9(0) |
| U154.2 | neurodevelopmental | 0.88 | Yes | FLNA,MECP2,HCFC1 | FLNA(0.88),MECP2(0.85),HCFC1(0.83),L1CAM(0.75),RAB39B(0.63),GDI1(0.62),FAM50A(0.62),RPL10(0.61),BCAP31(0.61),DKC1(0.59),SLC6A8(0.55),TKTL1(0.51),ATP6AP1(0.5),LAGE3(0.5),SSR4(0.5),NAA10(0.5),IRAK1(0.46),AVPR2(0.38),EMD(0.38),IKBKG(0.38),PLXNA3(0.37),G6PD(0.37),IDH3G(0.37),PDZD4(0.37),OPN1LW(0.36),TMEM187(0.33),MPP1(0.32),TMLHE(0.28),ABCD1(0.28),CLIC2(0.25),OPN1MW(0.25),OPN1MW2(0.25),UBL4A(0.25),VBP1(0.25),ARHGAP4(0.23),PNCK(0.21),BRCC3(0.17),TAZ(0.17),DNASE1L1(0.15),DUSP9(0.13),F8(0.13),SRPK3(0.13),GAB3(0.12),RENBP(0.12),FUNDC2(0.12),FAM3A(0.09),F8A1(0.05),SLC10A3(0.05),MTCP1(0.02),CMC4(0),CTAG1A(0),CTAG1B(0),CTAG2(0),F8A2(0),F8A3(0),H2AB1(0),H2AB2(0),H2AB3(0),PLXNB3(0),SMIM9(0) |
| U16 | neurodevelopmental | 0.99 | Yes | BCL11A,OTX1 | BCL11A(0.99),OTX1(0.83),MDH1(0.62),PEX13(0.53),B3GNT2(0.5),XPO1(0.5),USP34(0.47),PAPOLG(0.36),CCT4(0.33),EHBP1(0.33),C2orf74(0.31),FAM161A(0.28),COMMD1(0.2),REL(0.17),KIAA1841(0.07),TMEM17(0.01),PUS10(0),WDPCP(0) |
| U2 | neurodevelopmental | 0.83 | Yes | ATP1A1,NRAS,PHGDH,WARS2 | ATP1A1(0.83),NRAS(0.83),PHGDH(0.83),WARS2(0.83),AP4B1(0.67),HMGCS2(0.67),BCL2L15(0.5),CSDE1(0.5),HIPK1(0.5),PTGFRN(0.5),SEC22B(0.5),SYT6(0.5),TRIM33(0.5),ZNF697(0.5),IGSF3(0.5),ADAM30(0.5),HAO2(0.49),HSD3B1(0.49),REG4(0.49),NOTCH2(0.49),TBX15(0.48),MAN1A2(0.39),NHLH2(0.36),NGF(0.34),BCAS2(0.33),DCLRE1B(0.33),FAM72B(0.33),HSD3B2(0.33),NBPF7(0.33),OLFML3(0.33),PTPN22(0.33),TSHB(0.33),WDR3(0.33),TSPAN2(0.29),GDAP2(0.23),SIKE1(0.19),DENND2C(0.17),SPAG17(0.17),SYCP1(0.16),SLC22A15(0.02),TRIM45(0.01),AMPD1(0),CASQ2(0),CD101(0),CD2(0),CD58(0),MAB21L3(0),SRGAP2C(0),TENT5C(0),TTF2(0),VANGL1(0),VTCN1(0) |
| U20 | neurodevelopmental | 1 | Yes | SATB2 | SATB2(1),BZW1(0.75),SPATS2L(0.34),C2orf69(0.26),AOX1(0.17),KCTD18(0.02),FTCDNL1(0),MAIP1(0),SGO2(0),TYW5(0) |
| U21 | neurodevelopmental | 1 | Yes | KIF1A,NDUFA10 | KIF1A(1),NDUFA10(0.81),ATG4B(0.67),HDAC4(0.61),GPC1(0.5),HDLBP(0.5),PPP1R7(0.49),THAP4(0.48),BOK(0.48),D2HGDH(0.36),STK25(0.33),RNPEPL1(0.29),CAPN10(0.28),DTYMK(0.24),PASK(0.22),OR6B2(0.17),SNED1(0.17),PDCD1(0.16),AGXT(0.14),ANKMY1(0.14),ING5(0.07),DUSP28(0.05),FARP2(0.02),ANO7(0),AQP12A(0),AQP12B(0),COPS9(0),CROCC2(0),FAM240C(0),GAL3ST2(0),GPR35(0),MAB21L4(0),MTERF4(0),NEU4(0),OR6B3(0),OTOS(0),RTP5(0),SEPTIN2(0) |
| U22.1 | neurodevelopmental | 1 | Yes | KIF1A,NDUFA10 | KIF1A(1),NDUFA10(0.86),HDAC4(0.71),ATG4B(0.67),GPC1(0.63),HDLBP(0.5),PPP1R7(0.49),THAP4(0.48),BOK(0.48),RNPEPL1(0.47),CAPN10(0.46),OR6B2(0.38),AGXT(0.36),ANKMY1(0.36),D2HGDH(0.36),STK25(0.33),DUSP28(0.28),AQP12A(0.25),AQP12B(0.25),GPR35(0.25),OR6B3(0.25),OTOS(0.25),DTYMK(0.24),PASK(0.22),SNED1(0.17),PDCD1(0.16),ING5(0.07),FARP2(0.02),ANO7(0),COPS9(0),CROCC2(0),FAM240C(0),GAL3ST2(0),MAB21L4(0),MTERF4(0),NEU4(0),RTP5(0),SEPTIN2(0) |
| U22.2 | neurodevelopmental | 0.83 | Yes | TUBB3 | TUBB3(0.83),ACSF3(0.67),ANKRD11(0.67),CA5A(0.67),CDH15(0.67),CDK10(0.67),CHMP1A(0.67),FANCA(0.67),JPH3(0.67),PIEZO1(0.67),TRAPPC2L(0.67),FBXO31(0.62),APRT(0.5),CBFA2T3(0.5),CYBA(0.5),MC1R(0.5),PRDM7(0.5),SLC7A5(0.5),SPG7(0.5),TCF25(0.5),ZFPM1(0.5),ZNF469(0.5),ZCCHC14(0.5),GAS8(0.48),BANP(0.33),CDT1(0.33),CENPBD1(0.33),CPNE7(0.33),CTU2(0.33),DBNDD1(0.33),DEF8(0.33),DPEP1(0.33),GALNS(0.33),IL17C(0.33),KLHDC4(0.33),MVD(0.33),PABPN1L(0.33),RNF166(0.33),RPL13(0.33),SNAI3(0.33),SPATA2L(0.33),SPIRE2(0.33),ZC3H18(0.33),ZNF276(0.33),ZNF778(0.33),FOXC2(0.25),MAP1LC3B(0.25),FOXL1(0.24),C16orf95(0),SLC22A31(0),SPATA33(0),VPS9D1(0) |
| U26 | neurodevelopmental | 0.83 | Yes | ZNF292 | ZNF292(0.83),MAP3K7(0.76),CNR1(0.67),RARS2(0.67),BACH2(0.66),UBE2J1(0.64),SLC35A1(0.62),RRAGD(0.5),EPHA7(0.5),AKIRIN2(0.5),PNRC1(0.33),RNGTT(0.32),CGA(0.25),MDN1(0.23),ORC3(0.22),SRSF12(0.19),GABRR1(0.17),LYRM2(0.12),PM20D2(0.07),CASP8AP2(0.06),ANKRD6(0.06),C6orf163(0),CFAP206(0),GABRR2(0),GJA10(0),GJB7(0),SMIM8(0),SPACA1(0) |
| U3 | neurodevelopmental | 0.83 | Yes | RBM8A | RBM8A(0.83),PDE4DIP(0.75),PEX11B(0.67),POLR3GL(0.67),LIX1L(0.5),PRKAB2(0.5),GJA5(0.35),BCL9(0.33),GJA8(0.33),TXNIP(0.33),POLR3C(0.33),PPIAL4G(0.33),PIAS3(0.33),RNF115(0.32),ANKRD34A(0.29),FAM72D(0.25),NBPF9(0.25),PPIAL4A(0.25),FMO5(0.17),NBPF11(0.17),NBPF8(0.17),GPR89A(0.14),CHD1L(0.09),NUDT17(0.04),ANKRD35(0.01),ACP6(0),CD160(0),GPR89B(0),HJV(0),ITGA10(0),NBPF10(0),NBPF14(0),NOTCH2NLA(0),PDZK1(0) |
| U38 | neurodevelopmental | 0.89 | Yes | KCNK9,PLEC,PUF60 | KCNK9(0.89),PLEC(0.83),PUF60(0.83),GPAA1(0.67),LY6D(0.67),RECQL4(0.67),TONSL(0.67),LYNX1(0.67),ADCK5(0.5),ARC(0.5),CYP11B1(0.5),CYP11B2(0.5),DGAT1(0.5),EEF1D(0.5),FAM83H(0.5),FOXH1(0.5),HSF1(0.5),LY6H(0.5),MAF1(0.5),MAFA(0.5),MAPK15(0.5),OPLAH(0.5),PTP4A3(0.5),SCRT1(0.5),SLURP1(0.5),RPL8(0.5),SCRIB(0.5),ZNF517(0.49),C8orf33(0.49),ZNF34(0.49),TRAPPC9(0.39),PTK2(0.38),ARHGAP39(0.33),BOP1(0.33),C8orf82(0.33),CCDC166(0.33),COMMD5(0.33),CPSF1(0.33),CYC1(0.33),CYHR1(0.33),EPPK1(0.33),EXOSC4(0.33),FBXL6(0.33),GLI4(0.33),GML(0.33),GPIHBP1(0.33),GPT(0.33),GRINA(0.33),GSDMD(0.33),JRK(0.33),KIFC2(0.33),LRRC14(0.33),LRRC24(0.33),LY6E(0.33),LY6K(0.33),LYPD2(0.33),MFSD3(0.33),NRBP2(0.33),PARP10(0.33),PPP1R16A(0.33),PSCA(0.33),RHPN1(0.33),SHARPIN(0.33),SLC39A4(0.33),SPATC1(0.33),TIGD5(0.33),TOP1MT(0.33),TSNARE1(0.33),VPS28(0.33),ZC3H3(0.33),ZFP41(0.33),ZNF16(0.33),ZNF250(0.33),ZNF251(0.33),ZNF623(0.33),ZNF696(0.33),ZNF7(0.33),ZNF707(0.33),FAM135B(0.22),CHRAC1(0.04),SLC45A4(0.02),ADGRB1(0),AGO2(0),COL22A1(0),DENND3(0),GFUS(0),GPR20(0),HGH1(0),IQANK1(0),LY6L(0),LYNX1-SLURP2(0),MROH1(0),MROH6(0),NAPRT(0),PYCR3(0),SCX(0),SLC52A2(0),SLURP2(0),THEM6(0),TMEM249(0),WDR97(0) |
| U39 | neurodevelopmental | 0.88 | Yes | PUF60 | PUF60(0.88),GPAA1(0.75),PLEC(0.68),DGAT1(0.63),EEF1D(0.63),LY6H(0.63),MAF1(0.63),PTP4A3(0.63),SCRT1(0.63),RPL8(0.62),C8orf33(0.62),HSF1(0.62),SCRIB(0.62),FOXH1(0.57),RECQL4(0.56),LYNX1(0.54),C8orf82(0.5),CPSF1(0.5),CYC1(0.5),EXOSC4(0.5),GRINA(0.5),LRRC24(0.5),LY6D(0.5),LY6E(0.5),TONSL(0.5),VPS28(0.5),ZNF623(0.5),LRRC14(0.5),SHARPIN(0.5),KIFC2(0.5),NRBP2(0.5),ZNF517(0.49),ZNF34(0.47),ADCK5(0.45),ZC3H3(0.44),COMMD5(0.44),ARHGAP39(0.43),TIGD5(0.41),ARC(0.41),PPP1R16A(0.41),MFSD3(0.4),CYP11B1(0.38),CYP11B2(0.38),FAM83H(0.38),MAFA(0.38),MAPK15(0.38),OPLAH(0.38),SLURP1(0.38),JRK(0.38),CYHR1(0.37),FBXL6(0.36),ZNF251(0.34),GLI4(0.32),ZFP41(0.32),ZNF696(0.3),TSNARE1(0.3),ZNF16(0.29),TOP1MT(0.29),BOP1(0.28),ZNF7(0.28),RHPN1(0.28),PARP10(0.26),CCDC166(0.25),EPPK1(0.25),GML(0.25),GPIHBP1(0.25),GPT(0.25),GSDMD(0.25),LY6K(0.25),LYPD2(0.25),PSCA(0.25),SLC39A4(0.25),SPATC1(0.25),ZNF707(0.25),ZNF250(0.21),ADGRB1(0),GFUS(0),HGH1(0),IQANK1(0),LY6L(0),LYNX1-SLURP2(0),MROH1(0),MROH6(0),NAPRT(0),PYCR3(0),SCX(0),SLC52A2(0),SLURP2(0),THEM6(0),TMEM249(0),WDR97(0) |
| U4 | neurodevelopmental | 0.83 | Yes | RBM8A | RBM8A(0.83),PDE4DIP(0.75),PEX11B(0.67),POLR3GL(0.67),LIX1L(0.5),PRKAB2(0.5),GJA5(0.35),BCL9(0.33),GJA8(0.33),TXNIP(0.33),POLR3C(0.33),PPIAL4G(0.33),PIAS3(0.33),RNF115(0.32),ANKRD34A(0.29),FAM72D(0.25),NBPF9(0.25),PPIAL4A(0.25),FMO5(0.17),NBPF11(0.17),NBPF8(0.17),GPR89A(0.14),CHD1L(0.09),NUDT17(0.04),ANKRD35(0.01),ACP6(0),CD160(0),GPR89B(0),HJV(0),ITGA10(0),NBPF10(0),NBPF14(0),NOTCH2NLA(0),PDZK1(0) |
| U40 | neurodevelopmental | 0.99 | Yes | SLC1A1 | SLC1A1(0.99),GLIS3(0.74),RFX3(0.37) |
| U41 | neurodevelopmental | 0.83 | Yes | RUSC2 | RUSC2(0.83),VCP(0.75),GALT(0.67),GBA2(0.67),PIGO(0.67),RNF38(0.67),GNE(0.65),DNAJB5(0.63),UNC13B(0.63),ALDH1B1(0.63),NPR2(0.62),STOML2(0.61),CCDC107(0.5),CREB3(0.5),IGFBPL1(0.5),POLR1E(0.5),TESK1(0.5),ZBTB5(0.5),PAX5(0.5),CLTA(0.49),SHB(0.49),DCAF10(0.48),EXOSC3(0.45),TPM2(0.43),FANCG(0.41),RGP1(0.41),CNTNAP3(0.38),ANKRD18A(0.38),TLN1(0.36),C9orf131(0.33),CCL19(0.33),CCL21(0.33),CCL27(0.33),FAM205A(0.33),FRMPD1(0.33),IL11RA(0.33),TOMM5(0.33),TMEM8B(0.33),GRHPR(0.29),MSMP(0.29),CD72(0.28),ZNF658(0.25),FBXO10(0.24),ZCCHC7(0.23),GLIPR2(0.23),OR2S2(0.17),HINT2(0.13),SPAG8(0.03),MELK(0.02),RECK(0.01),CA9(0),ARHGEF39(0),CCIN(0),FAM166B(0),FAM205C(0),FAM214B(0),FAM221B(0),FAM240B(0),HRCT1(0),LOC730098(0),OR13J1(0),PHF24(0),SIT1(0),SLC25A51(0),SPAAR(0),SPATA31A1(0),SPATA31A3(0),SPATA31A5(0),SPATA31A6(0),TRMT10B(0) |
| U42 | neurodevelopmental | 0.99 | Yes | PTCH1,BICD2 | PTCH1(0.99),BICD2(0.83),FANCC(0.67),WNK2(0.66),DIRAS2(0.5),GADD45G(0.5),NFIL3(0.5),PHF2(0.5),OGN(0.48),FAM120A(0.45),FGD3(0.44),AUH(0.38),CKS2(0.37),ROR2(0.33),SYK(0.33),BARX1(0.32),NOL8(0.25),CDC14B(0.25),NINJ1(0.25),ZNF510(0.21),SEMA4D(0.21),IPPK(0.21),SPTLC1(0.2),FAM120AOS(0.2),SECISBP2(0.19),ZNF484(0.18),FBP2(0.17),OMD(0.17),HABP4(0.17),ZNF367(0.13),ASPN(0.04),CENPP(0.02),PTPDC1(0),AOPEP(0),CARD19(0),ECM2(0),ERCC6L2(0),FBP1(0),HSD17B3(0),IARS1(0),MFSD14B(0),NUTM2F(0),PRSS47(0),PRXL2C(0),SLC35D2(0),SUSD3(0),ZNF169(0) |
| U44 | neurodevelopmental | 0.83 | Yes | ZNF462 | ZNF462(0.83),SLC44A1(0.78),RAD23B(0.66),KLF4(0.52),ABCA1(0.42),FKTN(0.4),TMEM38B(0.35),FSD1L(0.33),NIPSNAP3A(0.33),TXN(0.33),SVEP1(0.32),PTPN3(0.32),SMC2(0.28),LPAR1(0.24),TAL2(0.22),EPB41L4B(0.18),MUSK(0.17),NIPSNAP3B(0.09),DNAJC25-GNG10(0.08),PTGR1(0.05),DNAJC25(0.04),CTNNAL1(0.04),ABITRAM(0),ACTL7A(0),ACTL7B(0),C9orf152(0),ECPAS(0),ELP1(0),FRRS1L(0),OR13C2(0),OR13C3(0),OR13C4(0),OR13C5(0),OR13C8(0),OR13C9(0),OR13D1(0),OR13F1(0),OR2K2(0),PALM2AKAP2(0),TMEM245(0),TXNDC8(0),ZNF483(0) |
| U45 | neurodevelopmental | 0.82 | Yes | LHX6 | LHX6(0.82),DAB2IP(0.75),NDUFA8(0.75),UGCG(0.72),COL27A1(0.67),ASTN2(0.67),TNC(0.67),RAB14(0.62),CDK5RAP2(0.57),GSN(0.5),POLE3(0.5),PTGS1(0.5),RBM18(0.5),MEGF9(0.49),PRPF4(0.48),TRIM32(0.46),MRRF(0.43),SNX30(0.41),FBXW2(0.4),STOM(0.39),SUSD1(0.34),ALAD(0.34),ATP6V1G1(0.33),GNG10(0.33),MORN5(0.33),TTLL11(0.33),PAPPA(0.33),HSDL2(0.31),TNFSF8(0.31),ZFP37(0.27),ZNF618(0.25),SLC31A1(0.23),PHF19(0.23),ZNF883(0.19),AKNA(0.17),AMBP(0.17),BSPRY(0.17),C5(0.17),ORM1(0.17),ORM2(0.17),TLR4(0.17),PSMD5(0.14),HDHD3(0.13),FKBP15(0.06),CDC26(0.02),SLC31A2(0.02),KIAA1958(0.02),CNTRL(0.01),RGS3(0.01),C9orf43(0),B3GALT9(0),BRINP1(0),C9orf147(0),GGTA1(0),INIP(0),KIF12(0),PTBP3(0),RNF183(0),SHOC1(0),SLC46A2(0),TEX48(0),TEX53(0),TMEM268(0),TNFSF15(0),TRAF1(0),WDR31(0),WHRN(0) |
| U46 | neurodevelopmental | 1 | Yes | FRMD4A | FRMD4A(1),VIM(0.66),STAM(0.65),SEPHS1(0.62),C1QL3(0.61),FAM171A1(0.5),PRPF18(0.48),ARL5B(0.48),NMT2(0.46),HSPA14(0.34),FAM107B(0.33),RSU1(0.33),NSUN6(0.33),PLXDC2(0.31),SUV39H2(0.27),BEND7(0.25),TRDMT1(0.18),CACNB2(0.18),CDNF(0.17),ITGA8(0.17),ST8SIA6(0.17),MRC1(0.16),RPP38(0.14),PTER(0.08),ACBD7(0.04),DCLRE1C(0),CUBN(0),HACD1(0),LOC100421372(0),MALRD1(0),MEIG1(0),MINDY3(0),OLAH(0),SLC39A12(0),TMEM236(0) |
| U47 | neurodevelopmental | 0.87 | Yes | PAK1 | PAK1(0.87),CLNS1A(0.5),MYO7A(0.33),AQP11(0.28),GDPD4(0.25),OMP(0.25) |
| U51 | neurodevelopmental | 0.83 | Yes | MED13L | MED13L(0.83),MAP1LC3B2(0.5),RNFT2(0.38),HRK(0.38),FBXW8(0.3),TESC(0.25),SPRING1(0) |
| U53 | neurodevelopmental | 1 | Yes | EML1,YY1 | EML1(1),YY1(0.83),EVL(0.62),CCDC85C(0.52),DIO3(0.5),DEGS2(0.5),HHIPL1(0.5),BEGAIN(0.43),CYP46A1(0.37),RTL1(0.33),SLC25A29(0.33),DLK1(0.32),WDR25(0.25),SLC25A47(0),WARS1(0) |
| U59 | neurodevelopmental | 1 | Yes | GABRB3,GABRA5,UBE3A,HERC2,SNRPN | GABRB3(1),GABRA5(0.99),UBE3A(0.83),HERC2(0.82),SNRPN(0.81),NDN(0.67),APBA2(0.63),CYFIP1(0.63),MAGEL2(0.54),MKRN3(0.4),OCA2(0.36),GABRG3(0.35),NIPA1(0.33),NIPA2(0.33),SNURF(0.33),GOLGA8F(0.25),GOLGA8G(0.25),ATP10A(0.17),OR4M2(0.17),TUBGCP5(0.06),GOLGA6L1(0),GOLGA6L2(0),GOLGA6L7(0),GOLGA8M(0),GOLGA8S(0),LOC100132202(0),LOC102723623(0),LOC645202(0),NPAP1(0),NSMCE3(0),OR4N4(0) |
| U64 | neurodevelopmental | 1 | Yes | GABRB3,GABRA5,UBE3A,HERC2 | GABRB3(1),GABRA5(0.83),UBE3A(0.82),HERC2(0.82),MAGEL2(0.67),MKRN3(0.67),NDN(0.67),SNRPN(0.67),APBA2(0.38),OCA2(0.36),SNURF(0.33),GABRG3(0.19),ATP10A(0.17),GOLGA6L2(0),GOLGA6L7(0),GOLGA8F(0),GOLGA8G(0),GOLGA8M(0),LOC100132202(0),LOC645202(0),NPAP1(0),NSMCE3(0) |
| U65 | neurodevelopmental | 1 | Yes | GABRB3,GABRA5,UBE3A,HERC2 | GABRB3(1),GABRA5(0.83),UBE3A(0.82),HERC2(0.82),MAGEL2(0.67),MKRN3(0.67),NDN(0.67),SNRPN(0.67),APBA2(0.38),OCA2(0.36),SNURF(0.33),GABRG3(0.19),ATP10A(0.17),GOLGA6L2(0),GOLGA6L7(0),GOLGA8F(0),GOLGA8G(0),GOLGA8M(0),LOC100132202(0),LOC645202(0),NPAP1(0),NSMCE3(0) |
| U75 | neurodevelopmental | 1 | Yes | MEIS2 | MEIS2(1),SPRED1(0.7),GJD2(0.67),GOLGA8B(0.33),ZNF770(0.33),ACTC1(0.33),AQR(0.3),FAM98B(0.28),RASGRP1(0.17),CDIN1(0),DPH6(0),NANOGP8(0),TMCO5A(0) |
| U83 | neurodevelopmental | 0.83 | Yes | CORO1A | CORO1A(0.83),ALDOA(0.67),GSG1L(0.67),TAOK2(0.67),TUFM(0.67),MAPK3(0.66),MAZ(0.66),GTF3C1(0.63),SBK1(0.63),XPO6(0.63),CLN3(0.63),TBC1D10B(0.62),ATXN2L(0.5),C16orf92(0.5),CD2BP2(0.5),INO80E(0.5),KCTD13(0.5),PPP4C(0.5),PRRT2(0.5),YPEL3(0.5),ZNF48(0.5),DOC2A(0.5),SH2B1(0.49),BOLA2B(0.33),CDIPT(0.33),EIF3CL(0.33),HIRIP3(0.33),KIF22(0.33),MYLPF(0.33),SEZ6L2(0.33),SLX1A(0.33),SPNS1(0.33),SULT1A3(0.33),TMEM219(0.33),NFATC2IP(0.31),ASPHD1(0.28),EIF3C(0.2),LAT(0.17),SPN(0.17),IL27(0.16),CD19(0.14),RABEP2(0.13),SULT1A1(0.04),QPRT(0.04),BOLA2(0.03),MVP(0.03),GDPD3(0.02),NUPR1(0.02),APOBR(0),ATP2A1(0),BOLA2-SMG1P6(0),C16orf54(0),KATNIP(0),LOC112694756(0),NPIPB11(0),NPIPB12(0),NPIPB13(0),NPIPB6(0),NPIPB8(0),NPIPB9(0),PAGR1(0),SEPTIN1(0),SGF29(0),SLX1B(0),SULT1A2(0),SULT1A4(0),TBX6(0),TLCD3B(0),ZG16(0) |
| U87 | neurodevelopmental | 0.83 | Yes | CORO1A | CORO1A(0.83),ALDOA(0.67),TAOK2(0.67),MAPK3(0.66),MAZ(0.66),TBC1D10B(0.62),C16orf92(0.5),CD2BP2(0.5),INO80E(0.5),KCTD13(0.5),PPP4C(0.5),PRRT2(0.5),YPEL3(0.5),ZNF48(0.5),DOC2A(0.5),CDIPT(0.33),HIRIP3(0.33),KIF22(0.33),SEZ6L2(0.33),TMEM219(0.33),ASPHD1(0.28),MYLPF(0.25),SPN(0.17),QPRT(0.04),BOLA2(0.03),MVP(0.03),GDPD3(0.02),BOLA2-SMG1P6(0),BOLA2B(0),C16orf54(0),LOC112694756(0),NPIPB11(0),NPIPB12(0),NPIPB13(0),PAGR1(0),SEPTIN1(0),SLX1A(0),SLX1B(0),SULT1A3(0),SULT1A4(0),TBX6(0),TLCD3B(0),ZG16(0) |
| U88 | neurodevelopmental | 0.87 | Yes | CORO1A | CORO1A(0.87),ALDOA(0.67),TAOK2(0.67),MAPK3(0.66),MAZ(0.66),TBC1D10B(0.62),C16orf92(0.5),CD2BP2(0.5),INO80E(0.5),KCTD13(0.5),PPP4C(0.5),PRRT2(0.5),YPEL3(0.5),ZNF48(0.5),DOC2A(0.5),CDIPT(0.33),HIRIP3(0.33),KIF22(0.33),SEZ6L2(0.33),TMEM219(0.33),ASPHD1(0.28),BOLA2(0.27),BOLA2B(0.25),MYLPF(0.25),SLX1A(0.25),SLX1B(0.25),SULT1A3(0.25),SULT1A4(0.25),SPN(0.17),QPRT(0.04),MVP(0.03),GDPD3(0.02),BOLA2-SMG1P6(0),C16orf54(0),LOC112694756(0),NPIPB11(0),NPIPB12(0),NPIPB13(0),PAGR1(0),SEPTIN1(0),TBX6(0),TLCD3B(0),ZG16(0) |
| U90 | neurodevelopmental | 0.83 | Yes | CORO1A | CORO1A(0.83),ALDOA(0.67),TAOK2(0.67),MAPK3(0.66),MAZ(0.66),TBC1D10B(0.62),C16orf92(0.5),CD2BP2(0.5),INO80E(0.5),KCTD13(0.5),PPP4C(0.5),PRRT2(0.5),YPEL3(0.5),ZNF48(0.5),DOC2A(0.5),CDIPT(0.33),HIRIP3(0.33),KIF22(0.33),SEZ6L2(0.33),TMEM219(0.33),ASPHD1(0.28),BOLA2(0.27),BOLA2B(0.25),MYLPF(0.25),SLX1A(0.25),SLX1B(0.25),SULT1A3(0.25),SULT1A4(0.25),SPN(0.17),QPRT(0.04),MVP(0.03),GDPD3(0.02),BOLA2-SMG1P6(0),C16orf54(0),LOC112694756(0),NPIPB11(0),NPIPB12(0),NPIPB13(0),PAGR1(0),SEPTIN1(0),TBX6(0),TLCD3B(0),ZG16(0) |
| U91 | neurodevelopmental | 0.83 | Yes | CORO1A | CORO1A(0.83),ALDOA(0.67),TAOK2(0.67),MAPK3(0.66),MAZ(0.66),TBC1D10B(0.62),C16orf92(0.5),CD2BP2(0.5),INO80E(0.5),KCTD13(0.5),PPP4C(0.5),PRRT2(0.5),YPEL3(0.5),ZNF48(0.5),DOC2A(0.5),CDIPT(0.33),HIRIP3(0.33),KIF22(0.33),SEZ6L2(0.33),TMEM219(0.33),ASPHD1(0.28),BOLA2(0.27),BOLA2B(0.25),MYLPF(0.25),SLX1A(0.25),SLX1B(0.25),SULT1A3(0.25),SULT1A4(0.25),SPN(0.17),QPRT(0.04),MVP(0.03),GDPD3(0.02),BOLA2-SMG1P6(0),C16orf54(0),LOC112694756(0),NPIPB11(0),NPIPB12(0),NPIPB13(0),PAGR1(0),SEPTIN1(0),TBX6(0),TLCD3B(0),ZG16(0) |
| U93 | neurodevelopmental | 0.83 | Yes | CORO1A | CORO1A(0.83),ALDOA(0.67),TAOK2(0.67),MAPK3(0.66),MAZ(0.66),TBC1D10B(0.62),C16orf92(0.5),CD2BP2(0.5),INO80E(0.5),KCTD13(0.5),PPP4C(0.5),PRRT2(0.5),YPEL3(0.5),ZNF48(0.5),DOC2A(0.5),CDIPT(0.33),HIRIP3(0.33),KIF22(0.33),SEZ6L2(0.33),TMEM219(0.33),ASPHD1(0.28),BOLA2(0.27),BOLA2B(0.25),MYLPF(0.25),SLX1A(0.25),SLX1B(0.25),SULT1A3(0.25),SULT1A4(0.25),SPN(0.17),QPRT(0.04),MVP(0.03),GDPD3(0.02),BOLA2-SMG1P6(0),C16orf54(0),LOC112694756(0),NPIPB11(0),NPIPB12(0),NPIPB13(0),PAGR1(0),SEPTIN1(0),TBX6(0),TLCD3B(0),ZG16(0) |
| U94.1 | neurodevelopmental | 0.83 | Yes | SRCAP | SRCAP(0.83),CORO1A(0.67),MAPK3(0.66),STX1B(0.62),PHKG2(0.52),ALDOA(0.5),PPP4C(0.5),TAOK2(0.5),YPEL3(0.5),ZNF689(0.5),ZNF629(0.5),TBC1D10B(0.5),SETD1A(0.5),MAZ(0.49),FBRS(0.48),C16orf92(0.38),FBXL19(0.38),INO80E(0.38),KCTD13(0.38),PRRT2(0.38),RNF40(0.38),DOC2A(0.38),BOLA2B(0.33),CD2BP2(0.33),DCTPP1(0.33),GDPD3(0.33),ITGAL(0.33),MYLPF(0.33),PRR14(0.33),SEPHS2(0.33),SLX1A(0.33),SULT1A3(0.33),TBX6(0.33),ZNF48(0.33),ZNF688(0.33),ZNF747(0.33),ZNF764(0.33),ZNF768(0.33),ZNF785(0.33),CDIPT(0.25),HIRIP3(0.25),KIF22(0.25),SEZ6L2(0.25),TMEM219(0.25),BCL7C(0.25),ZNF771(0.24),ASPHD1(0.21),CTF1(0.13),SPN(0.13),QPRT(0.03),BOLA2(0.02),MVP(0.02),ORAI3(0.02),BOLA2-SMG1P6(0),C16orf54(0),CCDC189(0),HSD3B7(0),LOC112694756(0),LOC730183(0),NPIPB11(0),NPIPB12(0),NPIPB13(0),PAGR1(0),SEPTIN1(0),SLX1B(0),SULT1A4(0),TLCD3B(0),TMEM265(0),ZG16(0) |
| U96 | neurodevelopmental | 0.88 | Yes | TUBB3 | TUBB3(0.88),CHMP1A(0.75),TRAPPC2L(0.75),ANKRD11(0.75),CDH13(0.67),COX4I1(0.67),FBXO31(0.67),JPH3(0.67),CDK10(0.65),APRT(0.63),TCF25(0.63),SPG7(0.63),CYBA(0.63),FANCA(0.56),ACSF3(0.53),CDH15(0.5),DBNDD1(0.5),FOXF1(0.5),MVD(0.5),PIEZO1(0.5),RPL13(0.5),SLC7A5(0.5),ZC3H18(0.5),ZCCHC14(0.5),DEF8(0.5),CTU2(0.5),SPIRE2(0.5),HSDL1(0.49),CBFA2T3(0.49),MBTPS1(0.48),GAS8(0.46),MLYCD(0.45),MC1R(0.41),CENPBD1(0.41),ZDHHC7(0.41),ZFPM1(0.39),SPATA2L(0.39),ATMIN(0.38),CMIP(0.38),PRDM7(0.38),ZNF469(0.38),GCSH(0.36),RNF166(0.36),ZNF778(0.35),GALNS(0.35),ZNF276(0.35),CA5A(0.33),COTL1(0.33),HSBP1(0.33),KIAA0513(0.33),MAP1LC3B(0.33),MPHOSPH6(0.33),PLCG2(0.33),USP10(0.33),HSD17B2(0.33),TAF1C(0.33),NECAB2(0.33),CDT1(0.32),CPNE7(0.31),KLHL36(0.3),DPEP1(0.27),GAN(0.26),SNAI3(0.26),IL17C(0.25),PABPN1L(0.25),ATP2C2(0.2),ADAD2(0.17),CRISPLD2(0.17),FOXC2(0.17),FOXL1(0.17),IRF8(0.17),KLHDC4(0.12),GINS2(0.11),DNAAF1(0.09),MTHFSD(0.06),CENPN(0.05),BANP(0.04),C16orf46(0.01),BCO1(0),C16orf74(0),C16orf95(0),CIBAR2(0),CMC2(0),EMC8(0),GSE1(0),KCNG4(0),MEAK7(0),OSGIN1(0),PKD1L2(0),SDR42E1(0),SLC22A31(0),SLC38A8(0),SPATA33(0),VPS9D1(0),WFDC1(0) |
| U97 | neurodevelopmental | 0.83 | Yes | TUBB3 | TUBB3(0.83),ACSF3(0.67),ANKRD11(0.67),CDH15(0.67),CDK10(0.67),CHMP1A(0.67),COX4I1(0.67),FANCA(0.67),FBXO31(0.67),JPH3(0.67),PIEZO1(0.67),TRAPPC2L(0.67),APRT(0.5),CBFA2T3(0.5),CYBA(0.5),FOXF1(0.5),MC1R(0.5),PRDM7(0.5),SLC7A5(0.5),SPG7(0.5),TCF25(0.5),ZFPM1(0.5),ZNF469(0.5),ZCCHC14(0.5),GAS8(0.48),ZDHHC7(0.41),USP10(0.37),HSDL1(0.37),MBTPS1(0.36),KLHL36(0.35),CA5A(0.33),CDT1(0.33),CENPBD1(0.33),CPNE7(0.33),CTU2(0.33),DBNDD1(0.33),DEF8(0.33),DPEP1(0.33),GALNS(0.33),IL17C(0.33),KIAA0513(0.33),MAP1LC3B(0.33),MVD(0.33),PABPN1L(0.33),RNF166(0.33),RPL13(0.33),SNAI3(0.33),SPATA2L(0.33),SPIRE2(0.33),ZC3H18(0.33),ZNF276(0.33),ZNF778(0.33),COTL1(0.25),TAF1C(0.25),CRISPLD2(0.23),FOXC2(0.17),FOXL1(0.17),IRF8(0.17),ATP2C2(0.15),ADAD2(0.13),KLHDC4(0.12),GINS2(0.11),DNAAF1(0.07),MTHFSD(0.06),BANP(0.04),C16orf74(0),C16orf95(0),CIBAR2(0),EMC8(0),GSE1(0),KCNG4(0),MEAK7(0),SLC22A31(0),SLC38A8(0),SPATA33(0),VPS9D1(0),WFDC1(0) |
| U98 | neurodevelopmental | 0.87 | Yes | JPH3,FBXO31 | JPH3(0.87),FBXO31(0.83),SLC7A5(0.63),CA5A(0.5),FOXC2(0.5),ZCCHC14(0.5),FOXL1(0.49),BANP(0.4),KLHDC4(0.34),MAP1LC3B(0.33),C16orf95(0.25) |
| DGAP003 | vision_eye | 0.99 | Yes | KCNJ2 | KCNJ2(0.99),CACNA2D3(0.67),LRTM1(0.39),KCNJ16(0.33) |
| DGAP093 | vision_eye | 0.83 | Yes | PDHA1,RS1 | PDHA1(0.83),RS1(0.83),CDKL5(0.57),ACER1(0.5),CLPP(0.5),MLLT1(0.5),PPEF1(0.5),PHKA2(0.49),ACSBG2(0.33),ALKBH7(0.33),PSPN(0.33),RFX2(0.33),GTF2F1(0.13),ADGRG2(0),LOC390877(0) |
| DGAP100 | vision_eye | 0.88 | Yes | NSD1,NDP | NSD1(0.88),NDP(0.83),PDLIM7(0.74),KDM6A(0.68),FAM193B(0.62),DBN1(0.62),EFHC2(0.49),LMAN2(0.46),DDX41(0.45),PRELID1(0.39),F12(0.38),PFN3(0.38),RAB24(0.35),GRK6(0.35),DUSP21(0.33),FUNDC1(0.33),RGS14(0.3),MXD3(0.29),TMED9(0.28),DOK3(0.28),PRR7(0.25),SLC34A1(0.25) |
| DGAP105 | vision_eye | 0.83 | Yes | CTNNA1,SLC9A1 | CTNNA1(0.83),SLC9A1(0.82),SIL1(0.67),AHDC1(0.63),WDTC1(0.58),EGR1(0.5),ETF1(0.5),GFRA3(0.5),IFI6(0.5),KDM3B(0.5),KIF20A(0.5),LRRTM2(0.5),MATR3(0.5),TMEM222(0.5),CDC23(0.5),WASF2(0.49),BRD8(0.48),HSPA9(0.48),PAIP2(0.37),KLHL3(0.37),REEP2(0.36),TRNP1(0.36),CD164L2(0.33),CDC25C(0.33),FAM13B(0.33),FAM53C(0.33),FCN3(0.33),GPR3(0.33),HNRNPA0(0.33),MAP3K6(0.33),MYOT(0.33),NME5(0.33),PKD2L2(0.33),SYTL1(0.33),WNT8A(0.33),FGR(0.29),KDF1(0),TENT5B(0) |
| DGAP163 | vision_eye | 0.83 | Yes | SOS1 | SOS1(0.83),HECTD1(0.75),AP4S1(0.67),SCFD1(0.62),MAP4K3(0.61),COCH(0.5),STRN3(0.49),G2E3(0.45),TMEM178A(0.42),THUMPD2(0.33),CDKL4(0.33) |
| DGAP223 | vision_eye | 0.83 | Yes | GSC,DICER1 | GSC(0.83),DICER1(0.83),GLRX5(0.67),SYNE2(0.63),PLEKHG3(0.63),SERPINA11(0.5),SYNE3(0.5),ZBTB1(0.5),HSPA2(0.49),PPP2R5E(0.48),MTHFD1(0.48),SPTB(0.38),CLMN(0.33),SERPINA1(0.33),SERPINA12(0.33),SERPINA3(0.33),SERPINA4(0.33),SERPINA5(0.33),SERPINA9(0.33),ZBTB25(0.33),AKAP5(0.33),PPP1R36(0.33),WDR89(0.26),SGPP1(0.25),ESR2(0.17) |
| DGAP301 | vision_eye | 0.83 | Yes | MEF2C,ADAMTS17 | MEF2C(0.83),ADAMTS17(0.83),CERS3(0.36) |
| DGAP302 | vision_eye | 0.83 | Yes | EFNB1 | EFNB1(0.83),CLCN4(0.47),PJA1(0.25) |
| NIJ3 | vision_eye | 0.87 | Yes | P4HB | P4HB(0.87),PDE6G(0.75),TBCD(0.75),WDR45B(0.75),ARHGDIA(0.75),MTRR(0.73),FASN(0.63),RAC3(0.62),GPS1(0.62),CSNK1D(0.62),FOXK2(0.62),ADCY2(0.61),METRNL(0.61),PCYT2(0.6),MRPL12(0.52),CCDC57(0.5),NOTUM(0.5),PYCR1(0.5),GCGR(0.5),DUS1L(0.5),NARF(0.5),HGS(0.5),ASPSCR1(0.5),SLC16A3(0.5),FN3K(0.48),RFNG(0.41),ALYREF(0.4),SECTM1(0.38),SLC25A10(0.38),FASTKD3(0.37),ZNF750(0.36),OGFOD3(0.36),SIRT7(0.35),DCXR(0.34),MAFG(0.34),FN3KRP(0.32),B3GNTL1(0.3),CCDC137(0.3),LRRC45(0.3),ARL16(0.29),OXLD1(0.29),RAB40B(0.29),ANAPC11(0.27),CD7(0.25),MYADML2(0.25),NPB(0.25),PPP1R27(0.25),TEX19(0.25),UTS2R(0.25),C5orf49(0),CENPX(0),CYBC1(0),HEXD(0),MCRIP1(0) |
| UTR4 | vision_eye | 1 | Yes | TWIST1 | TWIST1(1),FERD3L(0.5),FLRT2(0.37) |
| UTR12 | vision_eye | 0.83 | Yes | DYRK1A | DYRK1A(0.83),RYR1(0.68),ACTN4(0.67),HNRNPL(0.62),CAPN12(0.5),EIF3K(0.5),FAM98C(0.5),RASGRP4(0.5),SPRED3(0.5),SARS2(0.5),MAP4K1(0.48),NFKBIB(0.48),SIRT2(0.41),ECH1(0.4),LGALS4(0.33),LGALS7(0.33),LGALS7B(0.33),MRPS12(0.33),RINL(0.33),CCER2(0),VPS26C(0) |
| U102 | vision_eye | 0.83 | Yes | DLG4,POLR2A | DLG4(0.83),POLR2A(0.83),NEURL4(0.67),ZBTB4(0.58),TP53(0.54),CHRNB1(0.51),AIPL1(0.5),ATP1B2(0.5),EIF4A1(0.5),NLGN2(0.5),DVL2(0.49),KIAA0753(0.48),MPDU1(0.38),XAF1(0.38),FXR2(0.36),NLRP1(0.36),DNAH2(0.34),RABEP1(0.34),ACADVL(0.33),SAT2(0.33),GPS2(0.31),EIF5A(0.3),C1QBP(0.29),CTDNEP1(0.29),SENP3(0.29),NUP88(0.27),RPAIN(0.24),TNFSF13(0.23),PHF23(0.21),DERL2(0.2),CLDN7(0.2),TNK1(0.19),TNFSF12(0.18),FGF11(0.17),SLC16A11(0.17),TMEM102(0.17),TNFSF12-TNFSF13(0.17),YBX2(0.16),ACAP1(0.16),FBXO39(0.13),SLC13A5(0.13),TEKT1(0.13),GABARAP(0.12),RNASEK(0.09),ZNF594(0.08),ELP5(0.08),TMEM256(0.07),PLSCR3(0.06),ASGR1(0.05),C17orf49(0.05),CD68(0.04),MIS12(0.02),MED31(0.02),DHX33(0.02),WSCD1(0),ALOX12(0),ASGR2(0),BCL6B(0),C17orf100(0),CLEC10A(0),EFNB3(0),KCTD11(0),LOC100996842(0),LOC728392(0),PIMREG(0),PITPNM3(0),SCIMP(0),SHBG(0),SLC16A13(0),SLC2A4(0),SLC35G6(0),SOX15(0),SPEM1(0),SPEM2(0),SPEM3(0),TMEM95(0),TXNDC17(0),WRAP53(0) |
| U44 | vision_eye | 0.83 | Yes | ZNF462 | ZNF462(0.83),ABCA1(0.78),KLF4(0.68),GRIN3A(0.67),SLC44A1(0.66),FRRS1L(0.51),FKTN(0.5),SVEP1(0.45),RAD23B(0.44),FSD1L(0.33),MUSK(0.33),TMEM38B(0.33),PTPN3(0.33),CYLC2(0.33),TMEM245(0.25),LPAR1(0.25),ZNF483(0.22),CTNNAL1(0.22),UGCG(0.21),EPB41L4B(0.18),SMC2(0.17),PTGR1(0.09),NIPSNAP3B(0.02),DNAJC25(0.01),TXN(0.01),NIPSNAP3A(0.01),ABITRAM(0),ACTL7A(0),ACTL7B(0),C9orf152(0),DNAJC25-GNG10(0),ECPAS(0),ELP1(0),GNG10(0),OR13C2(0),OR13C3(0),OR13C4(0),OR13C5(0),OR13C8(0),OR13C9(0),OR13D1(0),OR13F1(0),OR2K2(0),PALM2AKAP2(0),SHOC1(0),TAL2(0),TXNDC8(0) |
| U50 | vision_eye | 0.88 | Yes | KMT2D | KMT2D(0.88),WNT1(0.73),TUBA1A(0.63),TUBA1B(0.63),ARF3(0.61),DDX23(0.51),DHH(0.49),DDN(0.48),LMBR1L(0.48),PRKAG1(0.43),FKBP11(0.38),WNT10B(0.38),ADCY6(0.29),TUBA1C(0.27),CACNB3(0.25),CCDC65(0.25),RHEBL1(0.25),RND1(0.25) |
Download Table here
| Gene | Phenotype | N SVs | N SVs Long-Range | N SVs Coding | SV IDs | Long-Range SV IDs | Coding SV IDs |
|---|---|---|---|---|---|---|---|
| CORO1A | neurodevelopmental | 6 | 1 | 5 | U83,U87,U88,U90,U91,U93 | U88 | U83,U87,U90,U91,U93 |
| SCARF2 | head_neck | 5 | 1 | 5 | U126,U128,U129,U132,U133 | U129 | U126,U128,U129,U132,U133 |
| TBX1 | head_neck | 5 | 0 | 5 | U126,U128,U129,U132,U133 | U126,U128,U129,U132,U133 | |
| DGCR8 | head_neck | 5 | 0 | 5 | U126,U128,U129,U132,U133 | U126,U128,U129,U132,U133 | |
| GP1BB | head_neck | 5 | 0 | 5 | U126,U128,U129,U132,U133 | U126,U128,U129,U132,U133 | |
| MEF2C | neurodevelopmental | 5 | 4 | 1 | DGAP131,DGAP191,DGAP218,DGAP301,ROC1 | DGAP131,DGAP191,DGAP218,ROC1 | DGAP301 |
| SCARF2 | cardiovascular | 4 | 0 | 4 | U125,U128,U131,U132 | U125,U128,U131,U132 | |
| DGCR8 | cardiovascular | 4 | 0 | 4 | U125,U128,U131,U132 | U125,U128,U131,U132 | |
| SATB2 | neurodevelopmental | 4 | 3 | 1 | DGAP237,DGAP249,NIJ12,U20 | DGAP237,DGAP249,NIJ12 | U20 |
| GABRB3 | neurodevelopmental | 4 | 1 | 3 | DGAP278,U59,U64,U65 | DGAP278 | U59,U64,U65 |
| GABRA5 | neurodevelopmental | 4 | 1 | 3 | DGAP278,U59,U64,U65 | DGAP278 | U59,U64,U65 |
| UBE3A | neurodevelopmental | 4 | 1 | 3 | DGAP278,U59,U64,U65 | DGAP278 | U59,U64,U65 |
| DGCR8 | neurodevelopmental | 4 | 4 | 0 | U124,U129,U130,U134 | U124,U129,U130,U134 | |
| MAPK8IP2 | neurodevelopmental | 4 | 0 | 4 | U139,U140,U141,U142 | U139,U140,U141,U142 | |
| SBF1 | neurodevelopmental | 4 | 1 | 3 | U139,U140,U141,U142 | U142 | U139,U140,U141 |
| KDM6A | head_neck | 3 | 1 | 2 | DGAP100,DGAP153,DGAP202 | DGAP153 | DGAP100,DGAP202 |
| MEF2C | head_neck | 3 | 2 | 1 | DGAP131,DGAP222,DGAP301 | DGAP131,DGAP222 | DGAP301 |
| NDP | neurodevelopmental | 3 | 3 | 0 | DGAP100,DGAP153,DGAP202 | DGAP100,DGAP153,DGAP202 | |
| RBM8A | neurodevelopmental | 3 | 1 | 2 | DGAP199,U3,U4 | DGAP199 | U3,U4 |
| FLNA | neurodevelopmental | 3 | 3 | 0 | U153,U154.1,U154.2 | U153,U154.1,U154.2 | |
| MECP2 | neurodevelopmental | 3 | 3 | 0 | U153,U154.1,U154.2 | U153,U154.1,U154.2 | |
| HCFC1 | neurodevelopmental | 3 | 2 | 1 | U153,U154.1,U154.2 | U153,U154.1 | U154.2 |
| TUBB3 | neurodevelopmental | 3 | 1 | 2 | U22.2,U96,U97 | U96 | U22.2,U97 |
| HERC2 | neurodevelopmental | 3 | 0 | 3 | U59,U64,U65 | U59,U64,U65 | |
| NSD1 | head_neck | 2 | 1 | 1 | DGAP100,UTR21 | DGAP100 | UTR21 |
| PTCH1 | head_neck | 2 | 1 | 1 | DGAP152,U43 | DGAP152 | U43 |
| TBX15 | head_neck | 2 | 2 | 0 | DGAP199,DGAP292 | DGAP199,DGAP292 | |
| NOTCH2 | head_neck | 2 | 1 | 1 | DGAP199,DGAP292 | DGAP292 | DGAP199 |
| PHGDH | head_neck | 2 | 2 | 0 | DGAP199,DGAP292 | DGAP199,DGAP292 | |
| AUTS2 | head_neck | 2 | 0 | 2 | DGAP201,ROC17 | DGAP201,ROC17 | |
| DICER1 | head_neck | 2 | 2 | 0 | DGAP223,DGAP287 | DGAP223,DGAP287 | |
| GSC | head_neck | 2 | 2 | 0 | DGAP223,DGAP287 | DGAP223,DGAP287 | |
| FOXG1 | head_neck | 2 | 2 | 0 | DGAP245,NIJ1 | DGAP245,NIJ1 | |
| SOX9 | head_neck | 2 | 2 | 0 | DGAP288,UTR8 | DGAP288,UTR8 | |
| SATB2 | head_neck | 2 | 1 | 1 | NIJ12,U20 | NIJ12 | U20 |
| SRCAP | head_neck | 2 | 2 | 0 | U89,U92 | U89,U92 | |
| TUBB3 | head_neck | 2 | 2 | 2 | U96,U97 | U96,U97 | U96,U97 |
| FOXF1 | head_neck | 2 | 0 | 2 | U96,U97 | U96,U97 | |
| GAS8 | head_neck | 2 | 2 | 0 | U96,U97 | U96,U97 | |
| HAND2 | cardiovascular | 2 | 0 | 2 | U23.1,U23.2 | U23.1,U23.2 | |
| HAND2 | limbs | 2 | 0 | 2 | U23.1,U23.2 | U23.1,U23.2 | |
| MCOLN1 | neurodevelopmental | 2 | 2 | 0 | DGAP012,DGAP170 | DGAP012,DGAP170 | |
| NSD1 | neurodevelopmental | 2 | 1 | 1 | DGAP100,UTR21 | DGAP100 | UTR21 |
| PTCH1 | neurodevelopmental | 2 | 2 | 0 | DGAP152,U42 | DGAP152,U42 | |
| SLC13A5 | neurodevelopmental | 2 | 2 | 0 | DGAP171,U102 | DGAP171,U102 | |
| PHGDH | neurodevelopmental | 2 | 2 | 0 | DGAP199,U2 | DGAP199,U2 | |
| WARS2 | neurodevelopmental | 2 | 2 | 0 | DGAP199,U2 | DGAP199,U2 | |
| FOXG1 | neurodevelopmental | 2 | 2 | 0 | DGAP245,NIJ1 | DGAP245,NIJ1 | |
| PCDH19 | neurodevelopmental | 2 | 1 | 1 | DGAP270,U152 | DGAP270 | U152 |
| SNRPN | neurodevelopmental | 2 | 0 | 2 | DGAP278,U59 | DGAP278,U59 | |
| POU3F3 | neurodevelopmental | 2 | 2 | 0 | DGAP314,UTR5 | DGAP314,UTR5 | |
| ZEB2 | neurodevelopmental | 2 | 2 | 0 | DGAP329,ROC39 | DGAP329,ROC39 | |
| MYT1L | neurodevelopmental | 2 | 0 | 2 | NIJ15,NIJ16 | NIJ15,NIJ16 | |
| RPL10 | neurodevelopmental | 2 | 0 | 2 | U153,U154.1 | U153,U154.1 | |
| KIF1A | neurodevelopmental | 2 | 1 | 1 | U21,U22.1 | U22.1 | U21 |
| NDUFA10 | neurodevelopmental | 2 | 1 | 1 | U21,U22.1 | U22.1 | U21 |
| PUF60 | neurodevelopmental | 2 | 1 | 1 | U38,U39 | U39 | U38 |
| KCNJ2 | head_neck | 1 | 1 | 0 | DGAP003 | DGAP003 | |
| FGFR1 | head_neck | 1 | 0 | 1 | DGAP011 | DGAP011 | |
| PHF21A | head_neck | 1 | 0 | 1 | DGAP012 | DGAP012 | |
| STXBP2 | head_neck | 1 | 1 | 0 | DGAP012 | DGAP012 | |
| MCOLN1 | head_neck | 1 | 1 | 0 | DGAP012 | DGAP012 | |
| INSR | head_neck | 1 | 1 | 0 | DGAP012 | DGAP012 | |
| FBLN5 | head_neck | 1 | 1 | 0 | DGAP069 | DGAP069 | |
| NKX3-2 | head_neck | 1 | 1 | 0 | DGAP069 | DGAP069 | |
| AHDC1 | head_neck | 1 | 0 | 1 | DGAP105 | DGAP105 | |
| MATR3 | head_neck | 1 | 0 | 1 | DGAP105 | DGAP105 | |
| HSPA9 | head_neck | 1 | 1 | 0 | DGAP105 | DGAP105 | |
| DKC1 | head_neck | 1 | 1 | 0 | DGAP108 | DGAP108 | |
| FLNA | head_neck | 1 | 1 | 0 | DGAP108 | DGAP108 | |
| MECP2 | head_neck | 1 | 1 | 0 | DGAP108 | DGAP108 | |
| IKBKG | head_neck | 1 | 1 | 0 | DGAP108 | DGAP108 | |
| FAM50A | head_neck | 1 | 1 | 0 | DGAP108 | DGAP108 | |
| RPL10 | head_neck | 1 | 1 | 0 | DGAP108 | DGAP108 | |
| SUMO1 | head_neck | 1 | 0 | 1 | DGAP151 | DGAP151 | |
| CACNA1B | head_neck | 1 | 1 | 0 | DGAP155 | DGAP155 | |
| EHMT1 | head_neck | 1 | 0 | 1 | DGAP155 | DGAP155 | |
| FOXP1 | head_neck | 1 | 0 | 1 | DGAP157 | DGAP157 | |
| SOS1 | head_neck | 1 | 1 | 0 | DGAP163 | DGAP163 | |
| ACSL4 | head_neck | 1 | 1 | 0 | DGAP176 | DGAP176 | |
| KIDINS220 | head_neck | 1 | 1 | 0 | DGAP179 | DGAP179 | |
| ADAM17 | head_neck | 1 | 1 | 0 | DGAP179 | DGAP179 | |
| RBM8A | head_neck | 1 | 1 | 0 | DGAP199 | DGAP199 | |
| NCAPG2 | head_neck | 1 | 1 | 0 | DGAP201 | DGAP201 | |
| DHCR24 | head_neck | 1 | 1 | 0 | DGAP220 | DGAP220 | |
| F13A1 | head_neck | 1 | 1 | 0 | DGAP220 | DGAP220 | |
| SCP2 | head_neck | 1 | 1 | 0 | DGAP222 | DGAP222 | |
| ZIC1 | head_neck | 1 | 1 | 0 | DGAP244 | DGAP244 | |
| MLH1 | head_neck | 1 | 1 | 0 | DGAP245 | DGAP245 | |
| GATA6 | head_neck | 1 | 1 | 0 | DGAP252 | DGAP252 | |
| SNRPN | head_neck | 1 | 0 | 1 | DGAP278 | DGAP278 | |
| FGF9 | head_neck | 1 | 1 | 0 | DGAP292 | DGAP292 | |
| EFNB1 | head_neck | 1 | 1 | 0 | DGAP302 | DGAP302 | |
| CLCN4 | head_neck | 1 | 1 | 0 | DGAP302 | DGAP302 | |
| TFAP2A | head_neck | 1 | 1 | 0 | DGAP315 | DGAP315 | |
| TCF4 | head_neck | 1 | 0 | 1 | MGH9 | MGH9 | |
| COL12A1 | head_neck | 1 | 1 | 0 | ROC24 | ROC24 | |
| LMX1B | head_neck | 1 | 1 | 0 | ROC34 | ROC34 | |
| TFAP2B | head_neck | 1 | 1 | 0 | ROC37 | ROC37 | |
| CAMK2G | head_neck | 1 | 1 | 0 | NIJ6 | NIJ6 | |
| KAT6B | head_neck | 1 | 0 | 1 | NIJ6 | NIJ6 | |
| PRKAR1A | head_neck | 1 | 1 | 0 | NIJ9 | NIJ9 | |
| NFIA | head_neck | 1 | 0 | 1 | NIJ14 | NIJ14 | |
| RPS7 | head_neck | 1 | 1 | 0 | NIJ16 | NIJ16 | |
| TRAPPC12 | head_neck | 1 | 1 | 0 | NIJ16 | NIJ16 | |
| PTPN14 | head_neck | 1 | 1 | 0 | NIJ18 | NIJ18 | |
| TWIST1 | head_neck | 1 | 1 | 0 | UTR4 | UTR4 | |
| POU3F3 | head_neck | 1 | 1 | 0 | UTR5 | UTR5 | |
| NFIX | head_neck | 1 | 0 | 1 | UTR7 | UTR7 | |
| MDH1 | head_neck | 1 | 1 | 0 | UTR10 | UTR10 | |
| UGP2 | head_neck | 1 | 1 | 0 | UTR10 | UTR10 | |
| KCNJ6 | head_neck | 1 | 1 | 0 | UTR12 | UTR12 | |
| DYRK1A | head_neck | 1 | 0 | 1 | UTR12 | UTR12 | |
| F12 | head_neck | 1 | 1 | 0 | UTR21 | UTR21 | |
| POLR2A | head_neck | 1 | 0 | 1 | U102 | U102 | |
| TP53 | head_neck | 1 | 0 | 1 | U102 | U102 | |
| NOTCH3 | head_neck | 1 | 1 | 0 | U114 | U114 | |
| FCHO1 | head_neck | 1 | 1 | 0 | U114 | U114 | |
| SLC5A5 | head_neck | 1 | 1 | 0 | U114 | U114 | |
| PPP2R1A | head_neck | 1 | 1 | 0 | U116 | U116 | |
| ETFB | head_neck | 1 | 1 | 0 | U116 | U116 | |
| KCNN3 | head_neck | 1 | 1 | 0 | U12.1 | U12.1 | |
| ADAR | head_neck | 1 | 1 | 0 | U12.1 | U12.1 | |
| AKT3 | head_neck | 1 | 0 | 1 | U13 | U13 | |
| HNRNPU | head_neck | 1 | 0 | 1 | U13 | U13 | |
| COX20 | head_neck | 1 | 0 | 1 | U13 | U13 | |
| MAPK1 | head_neck | 1 | 0 | 1 | U137 | U137 | |
| SBF1 | head_neck | 1 | 0 | 1 | U139 | U139 | |
| BCL11A | head_neck | 1 | 1 | 0 | U16 | U16 | |
| MCIDAS | head_neck | 1 | 1 | 0 | U24 | U24 | |
| ELN | head_neck | 1 | 0 | 1 | U30 | U30 | |
| OSR2 | head_neck | 1 | 1 | 0 | U37 | U37 | |
| PLEC | head_neck | 1 | 0 | 1 | U39 | U39 | |
| COL27A1 | head_neck | 1 | 0 | 1 | U45 | U45 | |
| KMT2D | head_neck | 1 | 0 | 1 | U50 | U50 | |
| MED13L | head_neck | 1 | 0 | 1 | U51 | U51 | |
| HERC2 | head_neck | 1 | 0 | 1 | U65 | U65 | |
| UBE3A | head_neck | 1 | 0 | 1 | U65 | U65 | |
| GABRB3 | head_neck | 1 | 0 | 1 | U65 | U65 | |
| MEIS2 | head_neck | 1 | 0 | 1 | U75 | U75 | |
| SPRED1 | head_neck | 1 | 0 | 1 | U75 | U75 | |
| IGF1R | head_neck | 1 | 0 | 1 | U76 | U76 | |
| CHSY1 | head_neck | 1 | 0 | 1 | U76 | U76 | |
| MBTPS1 | head_neck | 1 | 0 | 1 | U96 | U96 | |
| KDM3B | cardiovascular | 1 | 1 | 0 | DGAP105 | DGAP105 | |
| HSPA9 | cardiovascular | 1 | 1 | 0 | DGAP105 | DGAP105 | |
| CACNA1B | cardiovascular | 1 | 1 | 0 | DGAP155 | DGAP155 | |
| GRIN1 | cardiovascular | 1 | 1 | 0 | DGAP155 | DGAP155 | |
| TFAP2B | cardiovascular | 1 | 1 | 0 | DGAP274 | DGAP274 | |
| ADNP | cardiovascular | 1 | 1 | 0 | DGAP274 | DGAP274 | |
| ZMIZ1 | cardiovascular | 1 | 0 | 1 | ROC3 | ROC3 | |
| KCNJ2 | cardiovascular | 1 | 1 | 0 | NIJ9 | NIJ9 | |
| PROX1 | cardiovascular | 1 | 1 | 0 | NIJ18 | NIJ18 | |
| ACTN4 | cardiovascular | 1 | 0 | 1 | UTR12 | UTR12 | |
| F12 | cardiovascular | 1 | 1 | 0 | UTR21 | UTR21 | |
| NSD1 | cardiovascular | 1 | 0 | 1 | UTR21 | UTR21 | |
| TXNL4A | cardiovascular | 1 | 0 | 1 | U111 | U111 | |
| SMARCB1 | cardiovascular | 1 | 1 | 0 | U137 | U137 | |
| MAPK1 | cardiovascular | 1 | 0 | 1 | U137 | U137 | |
| TTN | cardiovascular | 1 | 0 | 1 | U19 | U19 | |
| RASA1 | cardiovascular | 1 | 0 | 1 | U25 | U25 | |
| MLXIPL | cardiovascular | 1 | 1 | 0 | U32 | U32 | |
| GATA4 | cardiovascular | 1 | 0 | 1 | U35 | U35 | |
| TSC2 | cardiovascular | 1 | 0 | 1 | U77 | U77 | |
| TBC1D24 | cardiovascular | 1 | 1 | 0 | U77 | U77 | |
| PHF21A | limbs | 1 | 0 | 1 | DGAP012 | DGAP012 | |
| INSR | limbs | 1 | 1 | 0 | DGAP012 | DGAP012 | |
| CLCN5 | limbs | 1 | 1 | 0 | DGAP017 | DGAP017 | |
| SHROOM4 | limbs | 1 | 1 | 0 | DGAP017 | DGAP017 | |
| AUTS2 | limbs | 1 | 0 | 1 | DGAP201 | DGAP201 | |
| SNRPN | limbs | 1 | 0 | 1 | DGAP278 | DGAP278 | |
| PRKAR1A | limbs | 1 | 1 | 0 | NIJ9 | NIJ9 | |
| SATB2 | limbs | 1 | 1 | 0 | NIJ12 | NIJ12 | |
| TWIST1 | limbs | 1 | 1 | 0 | UTR4 | UTR4 | |
| SOX9 | limbs | 1 | 1 | 0 | UTR8 | UTR8 | |
| DYRK1A | limbs | 1 | 0 | 1 | UTR12 | UTR12 | |
| SCARF2 | limbs | 1 | 0 | 1 | U132 | U132 | |
| DGCR8 | limbs | 1 | 0 | 1 | U132 | U132 | |
| FLNA | limbs | 1 | 0 | 1 | U153 | U153 | |
| MECP2 | limbs | 1 | 0 | 1 | U153 | U153 | |
| RPL10 | limbs | 1 | 0 | 1 | U153 | U153 | |
| MEIS2 | limbs | 1 | 0 | 1 | U75 | U75 | |
| NXN | limbs | 1 | 0 | 1 | U99 | U99 | |
| HIC1 | limbs | 1 | 0 | 1 | U99 | U99 | |
| PTPRD | neurodevelopmental | 1 | 1 | 0 | DGAP055 | DGAP055 | |
| PDHA1 | neurodevelopmental | 1 | 1 | 0 | DGAP093 | DGAP093 | |
| PHKA2 | neurodevelopmental | 1 | 1 | 0 | DGAP093 | DGAP093 | |
| NHS | neurodevelopmental | 1 | 1 | 0 | DGAP097 | DGAP097 | |
| KDM3B | neurodevelopmental | 1 | 1 | 0 | DGAP105 | DGAP105 | |
| HSPA9 | neurodevelopmental | 1 | 1 | 0 | DGAP105 | DGAP105 | |
| AHDC1 | neurodevelopmental | 1 | 0 | 1 | DGAP105 | DGAP105 | |
| SLC9A1 | neurodevelopmental | 1 | 1 | 0 | DGAP105 | DGAP105 | |
| COL1A2 | neurodevelopmental | 1 | 1 | 0 | DGAP132 | DGAP132 | |
| MAP1B | neurodevelopmental | 1 | 1 | 0 | DGAP132 | DGAP132 | |
| BCOR | neurodevelopmental | 1 | 1 | 0 | DGAP148 | DGAP148 | |
| TSPAN7 | neurodevelopmental | 1 | 1 | 0 | DGAP148 | DGAP148 | |
| GRIN1 | neurodevelopmental | 1 | 1 | 0 | DGAP155 | DGAP155 | |
| CACNA1B | neurodevelopmental | 1 | 1 | 0 | DGAP155 | DGAP155 | |
| OLFM1 | neurodevelopmental | 1 | 1 | 0 | DGAP155 | DGAP155 | |
| ABCA2 | neurodevelopmental | 1 | 1 | 0 | DGAP155 | DGAP155 | |
| KCNT1 | neurodevelopmental | 1 | 1 | 0 | DGAP155 | DGAP155 | |
| LHX3 | neurodevelopmental | 1 | 1 | 0 | DGAP155 | DGAP155 | |
| PHF21A | neurodevelopmental | 1 | 1 | 0 | DGAP155 | DGAP155 | |
| INPP5E | neurodevelopmental | 1 | 1 | 0 | DGAP155 | DGAP155 | |
| TPRN | neurodevelopmental | 1 | 1 | 0 | DGAP155 | DGAP155 | |
| ANK3 | neurodevelopmental | 1 | 0 | 1 | DGAP157 | DGAP157 | |
| FOXP1 | neurodevelopmental | 1 | 0 | 1 | DGAP157 | DGAP157 | |
| SOX6 | neurodevelopmental | 1 | 1 | 0 | DGAP162 | DGAP162 | |
| CALCA | neurodevelopmental | 1 | 1 | 0 | DGAP162 | DGAP162 | |
| SOS1 | neurodevelopmental | 1 | 1 | 0 | DGAP163 | DGAP163 | |
| SCN2A | neurodevelopmental | 1 | 1 | 0 | DGAP166 | DGAP166 | |
| SCN3A | neurodevelopmental | 1 | 1 | 0 | DGAP166 | DGAP166 | |
| SLC2A1 | neurodevelopmental | 1 | 1 | 0 | DGAP170 | DGAP170 | |
| SLITRK1 | neurodevelopmental | 1 | 1 | 0 | DGAP179 | DGAP179 | |
| SLC1A2 | neurodevelopmental | 1 | 1 | 0 | DGAP189 | DGAP189 | |
| SOX5 | neurodevelopmental | 1 | 0 | 1 | DGAP189 | DGAP189 | |
| CNKSR2 | neurodevelopmental | 1 | 1 | 0 | DGAP190 | DGAP190 | |
| SMS | neurodevelopmental | 1 | 0 | 1 | DGAP190 | DGAP190 | |
| MBTPS2 | neurodevelopmental | 1 | 1 | 0 | DGAP190 | DGAP190 | |
| CDH11 | neurodevelopmental | 1 | 1 | 0 | DGAP192 | DGAP192 | |
| SPAST | neurodevelopmental | 1 | 0 | 1 | DGAP193 | DGAP193 | |
| TBX15 | neurodevelopmental | 1 | 1 | 0 | DGAP199 | DGAP199 | |
| AUTS2 | neurodevelopmental | 1 | 0 | 1 | DGAP201 | DGAP201 | |
| NRN1 | neurodevelopmental | 1 | 1 | 0 | DGAP220 | DGAP220 | |
| DHCR24 | neurodevelopmental | 1 | 1 | 0 | DGAP220 | DGAP220 | |
| WDR1 | neurodevelopmental | 1 | 1 | 0 | DGAP243 | DGAP243 | |
| PBX1 | neurodevelopmental | 1 | 0 | 1 | DGAP243 | DGAP243 | |
| ZIC1 | neurodevelopmental | 1 | 1 | 0 | DGAP244 | DGAP244 | |
| CTNND2 | neurodevelopmental | 1 | 0 | 1 | DGAP244 | DGAP244 | |
| SYT7 | neurodevelopmental | 1 | 1 | 0 | DGAP255 | DGAP255 | |
| SHROOM4 | neurodevelopmental | 1 | 1 | 0 | DGAP270 | DGAP270 | |
| FOXP3 | neurodevelopmental | 1 | 1 | 0 | DGAP270 | DGAP270 | |
| DICER1 | neurodevelopmental | 1 | 1 | 0 | DGAP287 | DGAP287 | |
| WNT1 | neurodevelopmental | 1 | 1 | 0 | DGAP291 | DGAP291 | |
| SCN8A | neurodevelopmental | 1 | 1 | 0 | DGAP291 | DGAP291 | |
| SMARCD1 | neurodevelopmental | 1 | 1 | 0 | DGAP291 | DGAP291 | |
| TUBA1A | neurodevelopmental | 1 | 1 | 0 | DGAP291 | DGAP291 | |
| KCNH3 | neurodevelopmental | 1 | 1 | 0 | DGAP291 | DGAP291 | |
| DIP2B | neurodevelopmental | 1 | 1 | 0 | DGAP291 | DGAP291 | |
| AQP2 | neurodevelopmental | 1 | 1 | 0 | DGAP291 | DGAP291 | |
| TFAP2A | neurodevelopmental | 1 | 1 | 0 | DGAP315 | DGAP315 | |
| PCDH17 | neurodevelopmental | 1 | 1 | 0 | DGAP319 | DGAP319 | |
| TCF4 | neurodevelopmental | 1 | 0 | 1 | MGH9 | MGH9 | |
| CHD2 | neurodevelopmental | 1 | 1 | 0 | ROC1 | ROC1 | |
| CAMTA1 | neurodevelopmental | 1 | 0 | 1 | ROC4 | ROC4 | |
| CREBBP | neurodevelopmental | 1 | 1 | 0 | ROC5 | ROC5 | |
| COL12A1 | neurodevelopmental | 1 | 1 | 0 | ROC24 | ROC24 | |
| TFAP2B | neurodevelopmental | 1 | 1 | 0 | ROC37 | ROC37 | |
| ASTN1 | neurodevelopmental | 1 | 1 | 0 | ROC55 | ROC55 | |
| RAD21 | neurodevelopmental | 1 | 1 | 0 | ROC59 | ROC59 | |
| EIF4A3 | neurodevelopmental | 1 | 1 | 0 | NIJ3 | NIJ3 | |
| ACTG1 | neurodevelopmental | 1 | 1 | 0 | NIJ3 | NIJ3 | |
| RAC3 | neurodevelopmental | 1 | 1 | 0 | NIJ3 | NIJ3 | |
| CBX4 | neurodevelopmental | 1 | 1 | 0 | NIJ3 | NIJ3 | |
| RBFOX3 | neurodevelopmental | 1 | 1 | 0 | NIJ3 | NIJ3 | |
| SGSH | neurodevelopmental | 1 | 1 | 0 | NIJ3 | NIJ3 | |
| CAMK2G | neurodevelopmental | 1 | 1 | 0 | NIJ6 | NIJ6 | |
| KAT6B | neurodevelopmental | 1 | 0 | 1 | NIJ6 | NIJ6 | |
| PRKAR1A | neurodevelopmental | 1 | 1 | 0 | NIJ9 | NIJ9 | |
| CASK | neurodevelopmental | 1 | 1 | 0 | NIJ10 | NIJ10 | |
| CIC | neurodevelopmental | 1 | 1 | 0 | NIJ10 | NIJ10 | |
| MEGF8 | neurodevelopmental | 1 | 1 | 0 | NIJ10 | NIJ10 | |
| MAOA | neurodevelopmental | 1 | 1 | 0 | NIJ10 | NIJ10 | |
| ERF | neurodevelopmental | 1 | 1 | 0 | NIJ10 | NIJ10 | |
| POU2F2 | neurodevelopmental | 1 | 1 | 0 | NIJ10 | NIJ10 | |
| NFIA | neurodevelopmental | 1 | 0 | 1 | NIJ14 | NIJ14 | |
| BPTF | neurodevelopmental | 1 | 1 | 0 | NIJ15 | NIJ15 | |
| PSMD12 | neurodevelopmental | 1 | 1 | 0 | NIJ15 | NIJ15 | |
| PROX1 | neurodevelopmental | 1 | 1 | 0 | NIJ18 | NIJ18 | |
| SIX3 | neurodevelopmental | 1 | 1 | 0 | NIJ20 | NIJ20 | |
| PREPL | neurodevelopmental | 1 | 1 | 0 | NIJ20 | NIJ20 | |
| EBF1 | neurodevelopmental | 1 | 1 | 0 | UTR5 | UTR5 | |
| NFIX | neurodevelopmental | 1 | 0 | 1 | UTR7 | UTR7 | |
| GABRG2 | neurodevelopmental | 1 | 1 | 0 | UTR7 | UTR7 | |
| ZMYND11 | neurodevelopmental | 1 | 1 | 0 | UTR8 | UTR8 | |
| SOX9 | neurodevelopmental | 1 | 1 | 0 | UTR8 | UTR8 | |
| WDR37 | neurodevelopmental | 1 | 1 | 0 | UTR8 | UTR8 | |
| UGP2 | neurodevelopmental | 1 | 1 | 0 | UTR10 | UTR10 | |
| DYRK1A | neurodevelopmental | 1 | 0 | 1 | UTR12 | UTR12 | |
| GRM7 | neurodevelopmental | 1 | 0 | 1 | UTR18 | UTR18 | |
| NXN | neurodevelopmental | 1 | 1 | 0 | U101 | U101 | |
| PAFAH1B1 | neurodevelopmental | 1 | 0 | 1 | U101 | U101 | |
| CHD3 | neurodevelopmental | 1 | 1 | 0 | U102 | U102 | |
| KDM6B | neurodevelopmental | 1 | 1 | 0 | U102 | U102 | |
| ALOX12B | neurodevelopmental | 1 | 1 | 0 | U102 | U102 | |
| ALOXE3 | neurodevelopmental | 1 | 1 | 0 | U102 | U102 | |
| DLG4 | neurodevelopmental | 1 | 0 | 1 | U102 | U102 | |
| GUCY2D | neurodevelopmental | 1 | 1 | 0 | U102 | U102 | |
| POLR2A | neurodevelopmental | 1 | 0 | 1 | U102 | U102 | |
| RAI1 | neurodevelopmental | 1 | 1 | 0 | U104 | U104 | |
| TOP3A | neurodevelopmental | 1 | 1 | 0 | U104 | U104 | |
| RAB11FIP4 | neurodevelopmental | 1 | 0 | 1 | U105 | U105 | |
| APC2 | neurodevelopmental | 1 | 0 | 1 | U112.1 | U112.1 | |
| LMNB2 | neurodevelopmental | 1 | 1 | 0 | U112.1 | U112.1 | |
| MAP2K2 | neurodevelopmental | 1 | 1 | 0 | U112.1 | U112.1 | |
| EEF1A2 | neurodevelopmental | 1 | 1 | 1 | U112.2 | U112.2 | U112.2 |
| KCNQ2 | neurodevelopmental | 1 | 1 | 0 | U112.2 | U112.2 | |
| PPP2R1A | neurodevelopmental | 1 | 1 | 0 | U116 | U116 | |
| SNRPB | neurodevelopmental | 1 | 1 | 0 | U118 | U118 | |
| CSNK2A1 | neurodevelopmental | 1 | 0 | 1 | U118 | U118 | |
| ADAR | neurodevelopmental | 1 | 1 | 0 | U12.1 | U12.1 | |
| GATAD2B | neurodevelopmental | 1 | 0 | 1 | U12.1 | U12.1 | |
| MAPK1 | neurodevelopmental | 1 | 0 | 1 | U136 | U136 | |
| TCF20 | neurodevelopmental | 1 | 0 | 1 | U138 | U138 | |
| NRXN1 | neurodevelopmental | 1 | 0 | 1 | U15 | U15 | |
| BCL11A | neurodevelopmental | 1 | 0 | 1 | U16 | U16 | |
| OTX1 | neurodevelopmental | 1 | 1 | 0 | U16 | U16 | |
| ATP1A1 | neurodevelopmental | 1 | 0 | 1 | U2 | U2 | |
| NRAS | neurodevelopmental | 1 | 0 | 1 | U2 | U2 | |
| ZNF292 | neurodevelopmental | 1 | 0 | 1 | U26 | U26 | |
| KCNK9 | neurodevelopmental | 1 | 0 | 1 | U38 | U38 | |
| PLEC | neurodevelopmental | 1 | 1 | 0 | U38 | U38 | |
| SLC1A1 | neurodevelopmental | 1 | 1 | 0 | U40 | U40 | |
| RUSC2 | neurodevelopmental | 1 | 0 | 1 | U41 | U41 | |
| BICD2 | neurodevelopmental | 1 | 0 | 1 | U42 | U42 | |
| ZNF462 | neurodevelopmental | 1 | 0 | 1 | U44 | U44 | |
| LHX6 | neurodevelopmental | 1 | 1 | 0 | U45 | U45 | |
| FRMD4A | neurodevelopmental | 1 | 0 | 1 | U46 | U46 | |
| PAK1 | neurodevelopmental | 1 | 1 | 0 | U47 | U47 | |
| MED13L | neurodevelopmental | 1 | 0 | 1 | U51 | U51 | |
| EML1 | neurodevelopmental | 1 | 1 | 0 | U53 | U53 | |
| YY1 | neurodevelopmental | 1 | 0 | 1 | U53 | U53 | |
| MEIS2 | neurodevelopmental | 1 | 0 | 1 | U75 | U75 | |
| SRCAP | neurodevelopmental | 1 | 0 | 1 | U94.1 | U94.1 | |
| JPH3 | neurodevelopmental | 1 | 1 | 0 | U98 | U98 | |
| FBXO31 | neurodevelopmental | 1 | 0 | 1 | U98 | U98 | |
| KCNJ2 | vision_eye | 1 | 1 | 0 | DGAP003 | DGAP003 | |
| PDHA1 | vision_eye | 1 | 1 | 0 | DGAP093 | DGAP093 | |
| RS1 | vision_eye | 1 | 1 | 0 | DGAP093 | DGAP093 | |
| NSD1 | vision_eye | 1 | 1 | 0 | DGAP100 | DGAP100 | |
| NDP | vision_eye | 1 | 1 | 0 | DGAP100 | DGAP100 | |
| CTNNA1 | vision_eye | 1 | 1 | 0 | DGAP105 | DGAP105 | |
| SLC9A1 | vision_eye | 1 | 1 | 0 | DGAP105 | DGAP105 | |
| SOS1 | vision_eye | 1 | 1 | 0 | DGAP163 | DGAP163 | |
| GSC | vision_eye | 1 | 1 | 0 | DGAP223 | DGAP223 | |
| DICER1 | vision_eye | 1 | 1 | 0 | DGAP223 | DGAP223 | |
| MEF2C | vision_eye | 1 | 0 | 1 | DGAP301 | DGAP301 | |
| ADAMTS17 | vision_eye | 1 | 1 | 0 | DGAP301 | DGAP301 | |
| EFNB1 | vision_eye | 1 | 1 | 0 | DGAP302 | DGAP302 | |
| P4HB | vision_eye | 1 | 1 | 0 | NIJ3 | NIJ3 | |
| TWIST1 | vision_eye | 1 | 1 | 0 | UTR4 | UTR4 | |
| DYRK1A | vision_eye | 1 | 0 | 1 | UTR12 | UTR12 | |
| DLG4 | vision_eye | 1 | 0 | 1 | U102 | U102 | |
| POLR2A | vision_eye | 1 | 0 | 1 | U102 | U102 | |
| ZNF462 | vision_eye | 1 | 0 | 1 | U44 | U44 | |
| KMT2D | vision_eye | 1 | 1 | 1 | U50 | U50 | U50 |
Download Table here
| Chr Breakp1 | Coord Breakp1 | Chr Breakp2 | Coord Breakp2 | Type SV | Phenotype | SV ID | Source | refGenome | genePhenoConsideration | userTADmap |
|---|---|---|---|---|---|---|---|---|---|---|
| chr3 | 54949512,54949519 | chr17 | 68247915,68247919 | Translocation | head_neck,hearing_ear,integument,skeletal_system,vision_eye | DGAP003 | PMID:27841880 | hg19 | yes | no |
| chr7 | 47368687,47368688 | chr8 | 38292459,38292460 | Translocation | genitourinary_system,head_neck,reproductive_system | DGAP011 | PMID:27841880 | hg19 | yes | no |
| chr11 | 45965064,45965069 | chr19 | 8030126,8030133 | Translocation | cardiovascular,digestive,head_neck,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system,vision_eye | DGAP012 | PMID:27841880 | hg19 | yes | no |
| chr10 | 107711581,107714387 | chrX | 51703306,51707847 | Translocation | connective_tissue,digestive,genitourinary_system,integument,limbs,musculature,nervous_system,reproductive_system,respiratory_system,skeletal_system | DGAP017 | PMID:27841880 | hg19 | yes | no |
| chr7 | 88352066,88352067 | chr12 | 97860651,97860653 | Translocation | endocrine,genitourinary_system,head_neck,nervous_system,neurodevelopmental,reproductive_system,skeletal_system | DGAP032 | PMID:27841880 | hg19 | yes | no |
| chr7 | 92434321,92434331 | chr9 | 10964656,10964661 | Translocation | growth_abnormality,head_neck,immune_system,musculature,nervous_system,neurodevelopmental,respiratory_system,skeletal_system | DGAP055 | PMID:27841880 | hg19 | yes | no |
| chr4 | 13146929, | chr14 | 91866906,91866913 | Translocation | behaviour_neurological_cognitive,connective_tissue,digestive,genitourinary_system,growth_abnormality,head_neck,nervous_system,neurodevelopmental,reproductive_system,skeletal_system,vision_eye | DGAP069 | PMID:27841880 | hg19 | yes | no |
| chr8 | 60895263,60895267 | chr9 | 21845448,21845456 | Translocation | cardiovascular,hearing_ear,integument,limbs,skeletal_system | DGAP090 | PMID:27841880 | hg19 | yes | no |
| chr4 | 144634414,144634535 | chr15 | 33273614,33273934 | Translocation | cardiovascular,head_neck,hearing_ear,immune_system,musculature,respiratory_system | DGAP091 | PMID:27841880 | hg19 | yes | no |
| chr19 | 6384980,6384984 | chrX | 18456503,18456504 | Translocation | nervous_system,neurodevelopmental,vision_eye | DGAP093 | PMID:27841880 | hg19 | yes | no |
| chr9 | 33697171,33697179 | chrX | 16848016,16848017 | Translocation | behaviour_neurological_cognitive,head_neck,integument,musculature,nervous_system,neurodevelopmental,vision_eye | DGAP097 | PMID:27841880 | hg19 | yes | no |
| chr3 | 80706874,80706876 | chr3 | 114735958,114735959 | Inversion | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | DGAP099 | PMID:27841880 | hg19 | yes | no |
| chr5 | 176906708,176906713 | chrX | 44759733,44759735 | Translocation | digestive,growth_abnormality,head_neck,hearing_ear,homeostasis_metabolism,nervous_system,neurodevelopmental,skeletal_system,vision_eye | DGAP100 | PMID:27841880 | hg19 | yes | no |
| chr1 | 27926584,27926596 | chr5 | 138665751,138665757 | Translocation | cardiovascular,connective_tissue,digestive,genitourinary_system,head_neck,hearing_ear,integument,nervous_system,neurodevelopmental,reproductive_system,skeletal_system,urinary_system,vision_eye | DGAP105 | PMID:27841880 | hg19 | yes | no |
| chrX | 141915776,141922633 | chrX | 154060808,154066467 | Inversion | behaviour_neurological_cognitive,digestive,growth_abnormality,head_neck,integument,limbs,musculature,nervous_system,skeletal_system | DGAP108 | PMID:27841880 | hg19 | yes | no |
| chr16 | 46403287,46403291 | chr20 | 53969636,53969640 | Translocation | cardiovascular,digestive,genitourinary_system,growth_abnormality,immune_system,limbs,musculature,nervous_system,neurodevelopmental,reproductive_system,respiratory_system,skeletal_system,vision_eye | DGAP111 | PMID:27841880 | hg19 | yes | no |
| chr1 | 198076137,198076141 | chr3 | 110275764,110275769 | Translocation | head_neck,nervous_system,neurodevelopmental,skeletal_system,vision_eye | DGAP113 | PMID:27841880 | hg19 | yes | no |
| chr5 | 92743251,92743252 | chr13 | 99468197,99468200 | Translocation | digestive,head_neck,hearing_ear,musculature,skeletal_system | DGAP121 | PMID:27841880 | hg19 | yes | no |
| chr5 | 29658426,29658440 | chr10 | 67539990,67539995 | Translocation | behaviour_neurological_cognitive,genitourinary_system,nervous_system,neurodevelopmental,urinary_system | DGAP126 | PMID:27841880 | hg19 | yes | no |
| chr1 | 86157131,86157132 | chr5 | 88829562,88829564 | Translocation | behaviour_neurological_cognitive,head_neck,integument,musculature,nervous_system,neurodevelopmental | DGAP131 | PMID:27841880 | hg19 | yes | no |
| chr5 | 69973529,69973530 | chr7 | 94979567,94979568 | Translocation | head_neck,nervous_system,neurodevelopmental,skeletal_system | DGAP132 | PMID:27841880 | hg19 | yes | no |
| chr1 | 193491602, | chr6 | 100159181,100159182 | Translocation | adipose_tissue,connective_tissue,digestive,endocrine,head_neck,immune_system,integument,nervous_system,neurodevelopmental,skeletal_system | DGAP138 | PMID:27841880 | hg19 | yes | no |
| chr2 | 149034431,149034432 | chr22 | 45671558,45671560 | Translocation | behaviour_neurological_cognitive,digestive,nervous_system,neurodevelopmental | DGAP142 | PMID:27841880 | hg19 | yes | no |
| chrX | 39741845,39741846 | chr11 | 126910400,126910404 | Translocation | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | DGAP148 | PMID:27841880 | hg19 | yes | no |
| chr2 | 203082134,203082143 | chr8 | 143062504,143062505 | Translocation | digestive,head_neck | DGAP151 | PMID:27841880 | hg19 | yes | no |
| chr9 | 98807488,98807491 | chr19 | 38962777,38962784 | Translocation | behaviour_neurological_cognitive,growth_abnormality,head_neck,immune_system,integument,nervous_system,neurodevelopmental | DGAP152 | PMID:27841880 | hg19 | yes | no |
| chr17 | 20682684,20682691 | chrX | 44372164,44372172 | Translocation | behaviour_neurological_cognitive,head_neck,integument,nervous_system,neurodevelopmental | DGAP153 | PMID:27841880 | hg19 | yes | no |
| chr9 | 140661623,140661654 | chr11 | 46619320,46619326 | Translocation | behaviour_neurological_cognitive,cardiovascular,digestive,head_neck,immune_system,integument,nervous_system,neurodevelopmental,respiratory_system | DGAP155 | PMID:27841880 | hg19 | yes | no |
| chr3 | 71072118,71072125 | chr10 | 62133175,62133183 | Translocation | connective_tissue,digestive,head_neck,nervous_system,neurodevelopmental | DGAP157 | PMID:27841880 | hg19 | yes | no |
| chr2 | 8247756,8247757 | chr11 | 15825269,15825273 | Translocation | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | DGAP162 | PMID:27841880 | hg19 | yes | no |
| chr2 | 39206240,39206242 | chr14 | 31717833,31717834 | Translocation | genitourinary_system,head_neck,hearing_ear,immune_system,nervous_system,neurodevelopmental,reproductive_system,urinary_system,vision_eye | DGAP163 | PMID:27841880 | hg19 | yes | no |
| chr2 | 41119971,41119974 | chr2 | 166876479,166876483 | Inversion | head_neck,nervous_system,neurodevelopmental,skeletal_system | DGAP166 | PMID:27841880 | hg19 | yes | no |
| chr1 | 43493587,43493589 | chr19 | 7512323,7512335 | Translocation | behaviour_neurological_cognitive,nervous_system,neurodevelopmental,skeletal_system | DGAP170 | PMID:27841880 | hg19 | yes | no |
| chr17 | 5456019,5456021 | chr18 | 13529461,13529462 | Translocation | behaviour_neurological_cognitive,digestive,nervous_system,neurodevelopmental,skeletal_system | DGAP171 | PMID:27841880 | hg19 | yes | no |
| chrX | 82275014,82320865 | chrX | 108129970,108149247 | Inversion | head_neck,hearing_ear,nervous_system,skeletal_system | DGAP176 | PMID:27841880 | hg19 | yes | no |
| chr13 | 85092268,85092269 | chr2 | 7253685,7253686 | Translocation | cardiovascular,digestive,genitourinary_system,head_neck,nervous_system,neurodevelopmental,reproductive_system,skeletal_system,urinary_system | DGAP179 | PMID:27841880 | hg19 | yes | no |
| chr11 | 35077326,35077343 | chr12 | 23711182,23711192 | Translocation | nervous_system,neurodevelopmental | DGAP189 | PMID:27841880 | hg19 | yes | no |
| chr8 | 23337423,23342967 | chrX | 22004187,22009995 | Translocation | nervous_system,neurodevelopmental | DGAP190 | PMID:27841880 | hg19 | yes | no |
| chr5 | 88706882,88706887 | chr7 | 94007560,94007567 | Translocation | hearing_ear,musculature,nervous_system,neurodevelopmental | DGAP191 | PMID:27841880 | hg19 | yes | no |
| chr7 | 35404740,35404781 | chr16 | 64401069,64401073 | Translocation | musculature,nervous_system,neurodevelopmental | DGAP192 | PMID:27841880 | hg19 | yes | no |
| chr2 | 32310434,32310711 | chr2 | 171827243, | Inversion | head_neck,musculature,nervous_system,neurodevelopmental,skeletal_system | DGAP193 | PMID:27841880 | hg19 | yes | no |
| chr13 | 22056275,22059427 | chr1 | 19731464,19734491 | Translocation | head_neck,musculature | DGAP198 | PMID:27841880 | hg19 | yes | no |
| chr1 | 120532898,120533302 | chr1 | 145288006,145288014 | Inversion | growth_abnormality,head_neck,musculature,nervous_system,neurodevelopmental,skeletal_system | DGAP199 | PMID:27841880 | hg19 | yes | no |
| chr7 | 69685967,69685977 | chr7 | 157577842, | Inversion | behaviour_neurological_cognitive,connective_tissue,growth_abnormality,head_neck,hearing_ear,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system | DGAP201 | PMID:27841880 | hg19 | yes | no |
| chrX | 44893800,44901361 | chrX | 117134725,117140815 | Inversion | blood_hematopoietic_system,genitourinary_system,growth_abnormality,head_neck,nervous_system,neurodevelopmental,skeletal_system,urinary_system,vision_eye | DGAP202 | PMID:27841880 | hg19 | yes | no |
| chr5 | 24272298,24272302 | chr5 | 88400843,88400848 | Inversion | behaviour_neurological_cognitive,musculature,nervous_system,neurodevelopmental | DGAP218 | PMID:27841880 | hg19 | yes | no |
| chr1 | 54762795,54762810 | chr6 | 6348530, | Translocation | growth_abnormality,head_neck,nervous_system,neurodevelopmental | DGAP220 | PMID:27841880 | hg19 | yes | no |
| chr1 | 53133119, | chr5 | 89055498,89055499 | Translocation | growth_abnormality,head_neck,nervous_system,skeletal_system | DGAP222 | PMID:27841880 | hg19 | yes | no |
| chr14 | 64721084,64721088 | chr14 | 95038886,95038887 | Inversion | cardiovascular,digestive,endocrine,genitourinary_system,head_neck,homeostasis_metabolism,integument,nervous_system,urinary_system,vision_eye | DGAP223 | PMID:27841880 | hg19 | yes | no |
| chr7 | 85065138,85065436 | chr12 | 41784494,41784516 | Translocation | cardiovascular,growth_abnormality,head_neck,nervous_system,neurodevelopmental | DGAP224 | PMID:27841880 | hg19 | yes | no |
| chr2 | 200092423,200092424 | chr8 | 18574077,18574078 | Translocation | growth_abnormality,nervous_system,neurodevelopmental | DGAP237 | PMID:27841880 | hg19 | yes | no |
| chr7 | 52441833,52441835 | chr7 | 121624615,121624618 | Inversion | behaviour_neurological_cognitive,nervous_system,neurodevelopmental,skeletal_system | DGAP240 | PMID:27841880 | hg19 | yes | no |
| chr3 | 161887906,161887919 | chr4 | 79231476,79231491 | Translocation | behaviour_neurological_cognitive,digestive,growth_abnormality,neoplasm_cancer,nervous_system,neurodevelopmental | DGAP241 | PMID:27841880 | hg19 | yes | no |
| chr1 | 216952122,216953113 | chr5 | 93556332,93556663 | Translocation | hearing_ear,nervous_system,neurodevelopmental | DGAP242 | PMID:27841880 | hg19 | yes | no |
| chr1 | 164768863,164768893 | chr4 | 11161676,11161681 | Translocation | behaviour_neurological_cognitive,nervous_system,neurodevelopmental,skeletal_system | DGAP243 | PMID:27841880 | hg19 | yes | no |
| chr3 | 147428507,147428516 | chr5 | 11420640,11420650 | Translocation | adipose_tissue,behaviour_neurological_cognitive,connective_tissue,head_neck,integument,limbs,nervous_system,neurodevelopmental | DGAP244 | PMID:27841880 | hg19 | yes | no |
| chr3 | 36969141,36969450 | chr14 | 29745315,29745323 | Translocation | head_neck,nervous_system,neurodevelopmental,skeletal_system | DGAP245 | PMID:27841880 | hg19 | yes | no |
| chr2 | 199943781,199943805 | chr11 | 121638616,121642346 | Translocation | nervous_system,neurodevelopmental | DGAP249 | PMID:27841880 | hg19 | yes | no |
| chr12 | 2707616,2707634 | chr1 | 50758453,50758460 | Translocation | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | DGAP250 | PMID:27841880 | hg19 | yes | no |
| chr14 | 99346650,99371578 | chr15 | 47725044,47725060 | Translocation | behaviour_neurological_cognitive,nervous_system,vision_eye | DGAP251 | PMID:27841880 | hg19 | yes | no |
| chr3 | 104627622,104627629 | chr18 | 19498398,19498400 | Translocation | digestive,head_neck,nervous_system,respiratory_system,skeletal_system | DGAP252 | PMID:27841880 | hg19 | yes | no |
| chr11 | 61999067,61999068 | chr17 | 74405340,74405346 | Translocation | growth_abnormality,head_neck,limbs,nervous_system,neurodevelopmental,skeletal_system | DGAP255 | PMID:27841880 | hg19 | yes | no |
| chr9 | 29770647,29770663 | chr14 | 26447986,26447990 | Translocation | behaviour_neurological_cognitive,blood_hematopoietic_system,head_neck,hearing_ear,immune_system,nervous_system,respiratory_system,voice | DGAP263 | PMID:27841880 | hg19 | yes | no |
| chr2 | 216997527, | chr3 | 30846416,30846425 | Translocation | immune_system,limbs,nervous_system,neurodevelopmental,respiratory_system,skeletal_system | DGAP264 | PMID:27841880 | hg19 | yes | no |
| chr10 | 53889325,53889327 | chr14 | 46988908,46988911 | Translocation | genitourinary_system,head_neck,integument,nervous_system,neurodevelopmental,urinary_system | DGAP266 | PMID:27841880 | hg19 | yes | no |
| chrX | 50750620,50750637 | chrX | 99126508,99126511 | Inversion | behaviour_neurological_cognitive,nervous_system,neurodevelopmental,voice | DGAP270 | PMID:27841880 | hg19 | yes | no |
| chr6 | 51132362,51132364 | chr11 | 33691621,33691622 | Translocation | nervous_system,neurodevelopmental | DGAP273 | PMID:27841880 | hg19 | yes | no |
| chr6 | 50201436,50201441 | chr20 | 49262496,49262506 | Translocation | cardiovascular,skeletal_system,vision_eye | DGAP274 | PMID:27841880 | hg19 | yes | no |
| chr10 | 120586180,120586182 | chr15 | 25219251, | Translocation | adipose_tissue,connective_tissue,digestive,embryo_prenatal,growth_abnormality,head_neck,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system | DGAP278 | PMID:27841880 | hg19 | yes | no |
| chr4 | 31055843,31055845 | chr14 | 37866612,37866615 | Translocation | behaviour_neurological_cognitive,connective_tissue,digestive,embryo_prenatal,growth_abnormality,head_neck,hearing_ear,limbs,musculature,nervous_system,neurodevelopmental,respiratory_system,skeletal_system,vision_eye | DGAP283 | PMID:27841880 | hg19 | yes | no |
| chrX | 55174463, | chrX | 150284697,150284701 | Inversion | cardiovascular,embryo_prenatal,genitourinary_system,nervous_system,urinary_system | DGAP285 | PMID:27841880 | hg19 | yes | no |
| chr10 | 10161498,10161500 | chr14 | 95212572,95212573 | Translocation | behaviour_neurological_cognitive,head_neck,musculature,nervous_system,neurodevelopmental | DGAP287 | PMID:27841880 | hg19 | yes | no |
| chr6 | 112975803,112976085 | chr17 | 69727919,69728124 | Translocation | head_neck | DGAP288 | PMID:27841880 | hg19 | yes | no |
| chr12 | 52269668,52269674 | chr17 | 27924463,27924465 | Translocation | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | DGAP291 | PMID:27841880 | hg19 | yes | no |
| chr1 | 120664714,120664796 | chr13 | 22239581,22240476 | Translocation | behaviour_neurological_cognitive,digestive,head_neck,hearing_ear,immune_system,musculature,neoplasm_cancer,nervous_system | DGAP292 | PMID:27841880 | hg19 | yes | no |
| chr12 | 83594357,83594363 | chr14 | 48463406,48463408 | Translocation | behaviour_neurological_cognitive,genitourinary_system,head_neck,hearing_ear,limbs,nervous_system,neurodevelopmental,reproductive_system,skeletal_system,vision_eye | DGAP296 | PMID:27841880 | hg19 | yes | no |
| chr5 | 88058972, | chr15 | 100883141,100883143 | Translocation | behaviour_neurological_cognitive,genitourinary_system,head_neck,hearing_ear,integument,nervous_system,neurodevelopmental,reproductive_system,skeletal_system,vision_eye | DGAP301 | PMID:27841880 | hg19 | yes | no |
| chrX | 10214921,10214922 | chrX | 68179157,68179158 | Inversion | head_neck,vision_eye | DGAP302 | PMID:27841880 | hg19 | yes | no |
| chr2 | 104631779,104631878 | chr2 | 163458523,163458835 | Inversion | behaviour_neurological_cognitive,cardiovascular,growth_abnormality,head_neck,hearing_ear,immune_system,integument,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system,vision_eye | DGAP314 | PMID:27841880 | hg19 | yes | no |
| chr6 | 9394991,9394994 | chr6 | 63115685,63115715 | Inversion | head_neck,musculature,nervous_system,neurodevelopmental,skeletal_system | DGAP315 | PMID:27841880 | hg19 | yes | no |
| chr1 | 240731024,240731030 | chr14 | 42564475,42564485 | Translocation | genitourinary_system,head_neck,immune_system,limbs,nervous_system,neurodevelopmental,reproductive_system,respiratory_system,skeletal_system,urinary_system,vision_eye | DGAP318 | PMID:27841880 | hg19 | yes | no |
| chr4 | 161913247, | chr13 | 59345836,59345837 | Translocation | cardiovascular,growth_abnormality,head_neck,limbs,nervous_system,neurodevelopmental,skeletal_system | DGAP319 | PMID:27841880 | hg19 | yes | no |
| chr1 | 208544055,208544091 | chr18 | 63566037,63566045 | Translocation | genitourinary_system,growth_abnormality,nervous_system,neurodevelopmental,reproductive_system,urinary_system | DGAP322 | PMID:27841880 | hg19 | yes | no |
| chr2 | 145110936,145110937 | chr14 | 83574719,83574724 | Translocation | musculature,nervous_system,neurodevelopmental | DGAP329 | PMID:27841880 | hg19 | yes | no |
| chr3 | 118271920,118271923 | chr18 | 52909152,52909158 | Translocation | head_neck,musculature,nervous_system,neurodevelopmental | MGH9 | PMID:27841880 | hg19 | yes | no |
| chr5 | 88793025,88793026 | chr15 | 94759893,94759898 | Translocation | nervous_system,neurodevelopmental | ROC1 | PMID:27841880 | hg19 | yes | no |
| chr10 | 61982160,61982161 | chr10 | 80996001,80996002 | Inversion | cardiovascular | ROC3 | PMID:27841880 | hg19 | yes | no |
| chr1 | 7654856,7654860 | chr14 | 51518575,51518584 | Translocation | musculature,nervous_system,neurodevelopmental | ROC4 | PMID:27841880 | hg19 | yes | no |
| chr16 | 3107689,3107865 | chr17 | 22245536,22245671 | Translocation | head_neck,nervous_system,neurodevelopmental,skeletal_system | ROC5 | PMID:27841880 | hg19 | yes | no |
| chr4 | 31055843,31055846 | chr14 | 37866615,37866620 | Translocation | head_neck,limbs,skeletal_system | ROC6 | PMID:27841880 | hg19 | yes | no |
| chr5 | 52768751,52768753 | chr9 | 104269134,104269137 | Translocation | nervous_system,neurodevelopmental | ROC9 | PMID:27841880 | hg19 | yes | no |
| chr7 | 92261021,92261036 | chr7 | 142885901,142885906 | Inversion | cardiovascular,head_neck | ROC15 | PMID:27841880 | hg19 | yes | no |
| chr7 | 47072804,47131857 | chr7 | 69405740,69443921 | Inversion | behaviour_neurological_cognitive,head_neck,nervous_system | ROC17 | PMID:27841880 | hg19 | yes | no |
| chr6 | 75306558,75306576 | chr13 | 69060655,69060658 | Translocation | head_neck,nervous_system,neurodevelopmental,skeletal_system | ROC24 | PMID:27841880 | hg19 | yes | no |
| chr11 | 127375917,127375919 | chr12 | 104928418,104928424 | Translocation | nervous_system,neurodevelopmental | ROC33 | PMID:27841880 | hg19 | yes | no |
| chr9 | 100147259,100147266 | chr9 | 129235210,129235377 | Inversion | head_neck | ROC34 | PMID:27841880 | hg19 | yes | no |
| chr6 | 51021296,51021311 | chr6 | 160884785,160884789 | Inversion | head_neck,nervous_system,neurodevelopmental,skeletal_system | ROC37 | PMID:27841880 | hg19 | yes | no |
| chr2 | 146622966,146622970 | chr3 | 115275602,115275603 | Translocation | nervous_system,neurodevelopmental | ROC39 | PMID:27841880 | hg19 | yes | no |
| chr2 | 88265685,88272132 | chr2 | 113046244,113048680 | Inversion | blood_hematopoietic_system,immune_system,nervous_system,neurodevelopmental | ROC40 | PMID:27841880 | hg19 | yes | no |
| chr12 | 19689175,19689179 | chr12 | 82272180,82272194 | Inversion | nervous_system,neurodevelopmental | ROC41 | PMID:27841880 | hg19 | yes | no |
| chr1 | 178012970,178012972 | chr1 | 194194470,194194472 | Inversion | nervous_system,neurodevelopmental | ROC55 | PMID:27841880 | hg19 | yes | no |
| chr8 | 88901040,88901591 | chr8 | 117471681,117471801 | Inversion | nervous_system,neurodevelopmental | ROC59 | PMID:27841880 | hg19 | yes | no |
| chr8 | 79810404,79810407 | chr14 | 29765534,29765537 | Translocation | head_neck,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system | NIJ1 | PMID:27841880 | hg19 | yes | no |
| chr5 | 7846450,7846455 | chr17 | 80243258,80243260 | Translocation | head_neck,hearing_ear,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system,vision_eye | NIJ3 | PMID:27841880 | hg19 | yes | no |
| chr5 | 85190301,85190325 | chr5 | 118196906,118200609 | Inversion | behaviour_neurological_cognitive,head_neck,hearing_ear,integument,nervous_system,neurodevelopmental,vision_eye | NIJ4 | PMID:27841880 | hg19 | yes | no |
| chr2 | 23214466,23216386 | chr10 | 76605926,76609386 | Translocation | behaviour_neurological_cognitive,growth_abnormality,head_neck,hearing_ear,homeostasis_metabolism,integument,musculature,nervous_system,neurodevelopmental,skeletal_system,voice | NIJ6 | PMID:27841880 | hg19 | yes | no |
| chr17 | 67256102,67256103 | chr22 | 32682439,32682467 | Translocation | cardiovascular,head_neck,integument,limbs,nervous_system,neurodevelopmental,skeletal_system | NIJ9 | PMID:27841880 | hg19 | yes | no |
| chr19 | 43317301,43317622 | chrX | 42004520,42006309 | Translocation | behaviour_neurological_cognitive,musculature,nervous_system,neurodevelopmental | NIJ10 | PMID:27841880 | hg19 | yes | no |
| chr6 | 54409817,54409818 | chr6 | 113602140,113602142 | Inversion | nervous_system,neurodevelopmental,vision_eye | NIJ11 | PMID:27841880 | hg19 | yes | no |
| chr2 | 105990245,105990246 | chr2 | 199613232,199613234 | Inversion | behaviour_neurological_cognitive,genitourinary_system,growth_abnormality,head_neck,limbs,nervous_system,neurodevelopmental,reproductive_system,skeletal_system,vision_eye | NIJ12 | PMID:27841880 | hg19 | yes | no |
| chr1 | 61789104, | chr1 | 84393785, | Inversion | head_neck,limbs,nervous_system,neurodevelopmental,skeletal_system,vision_eye | NIJ14 | PMID:27841880 | hg19 | yes | no |
| chr2 | 2182453,2182460 | chr17 | 65010604,65014386 | Translocation | immune_system,integument,nervous_system,neurodevelopmental | NIJ15 | PMID:27841880 | hg19 | yes | no |
| chr2 | 2011765, | chr10 | 125469053,125469215 | Translocation | behaviour_neurological_cognitive,head_neck,limbs,nervous_system,neurodevelopmental,skeletal_system | NIJ16 | PMID:27841880 | hg19 | yes | no |
| chr1 | 213954769,213954780 | chr4 | 59217159,59217164 | Translocation | behaviour_neurological_cognitive,cardiovascular,head_neck,hearing_ear,immune_system,integument,limbs,neoplasm_cancer,nervous_system,neurodevelopmental,skeletal_system | NIJ18 | PMID:27841880 | hg19 | yes | no |
| chr2 | 44600852,44601467 | chr4 | 111753931,111754155 | Translocation | nervous_system,neurodevelopmental,vision_eye | NIJ20 | PMID:27841880 | hg19 | yes | no |
| chr21 | 35077301,35077304 | chrX | 130007427,130007454 | Translocation | connective_tissue,growth_abnormality,head_neck,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system,vision_eye | UTR1 | PMID:27841880 | hg19 | yes | no |
| chr21 | 31779945,31779950 | chr6 | 86322194,86322197 | Translocation | behaviour_neurological_cognitive,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system,vision_eye | UTR3 | PMID:27841880 | hg19 | yes | no |
| chr14 | 83843844,83843847 | chr7 | 19046446, | Translocation | digestive,head_neck,hearing_ear,limbs,nervous_system,neurodevelopmental,skeletal_system,vision_eye | UTR4 | PMID:27841880 | hg19 | yes | no |
| chr2 | 104777075,104782844 | chr5 | 157548506,157552658 | Translocation | head_neck,immune_system,musculature,nervous_system,neurodevelopmental,respiratory_system,skeletal_system | UTR5 | PMID:27841880 | hg19 | yes | no |
| chr19 | 13131525,13134650 | chr5 | 162651347,162659654 | Translocation | head_neck,nervous_system,neurodevelopmental | UTR7 | PMID:27841880 | hg19 | yes | no |
| chr10 | 2572670,2572679 | chr17 | 69391220,69395705 | Translocation | digestive,head_neck,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system | UTR8 | PMID:27841880 | hg19 | yes | no |
| chr10 | 10298352,10298462 | chr2 | 63978453,63978481 | Translocation | behaviour_neurological_cognitive,cardiovascular,head_neck,musculature,nervous_system,neurodevelopmental | UTR10 | PMID:27841880 | hg19 | yes | no |
| chr19 | 39140556,39140557 | chr21 | 38776963,38776964 | Translocation | behaviour_neurological_cognitive,cardiovascular,digestive,head_neck,hearing_ear,immune_system,limbs,musculature,nervous_system,neurodevelopmental,skeletal_system,vision_eye | UTR12 | PMID:27841880 | hg19 | yes | no |
| chr16 | 65826369,65827082 | chr6 | 43811346,43811369 | Translocation | musculature,nervous_system,neurodevelopmental | UTR16 | PMID:27841880 | hg19 | yes | no |
| chr3 | 114447919,114447922 | chr18 | 65690061,65690062 | Translocation | behaviour_neurological_cognitive,digestive,embryo_prenatal,growth_abnormality,head_neck,hearing_ear,musculature,nervous_system,neurodevelopmental,skeletal_system | UTR17 | PMID:27841880 | hg19 | yes | no |
| chr1 | 48200029,48200034 | chr3 | 7104708,7104710 | Translocation | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | UTR18 | PMID:27841880 | hg19 | yes | no |
| chr5 | 176621271,176621676 | chr7 | 137784681,137784871 | Translocation | cardiovascular,growth_abnormality,head_neck,nervous_system,neurodevelopmental,skeletal_system | UTR21 | PMID:27841880 | hg19 | yes | no |
| chr1 | 27647082 | chr1 | 28017518 | Duplication | nervous_system,neurodevelopmental | U1 | PMID:31801603 | hg19 | yes | no |
| chr17 | 2534547 | chr17 | 2540111 | Deletion | nervous_system,neurodevelopmental,vision_eye | U101 | PMID:31801603 | hg19 | yes | no |
| chr17 | 6857095 | chr17 | 7625999 | Deletion | head_neck,integument,nervous_system,neurodevelopmental,skeletal_system,vision_eye | U102 | PMID:31801603 | hg19 | yes | no |
| chr17 | 14087468 | chr17 | 15471179 | Duplication | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | U103 | PMID:31801603 | hg19 | yes | no |
| chr17 | 16790198 | chr17 | 20218793 | Duplication | nervous_system,neurodevelopmental | U104 | PMID:31801603 | hg19 | yes | no |
| chr17 | 29000019 | chr17 | 30380381 | Deletion | growth_abnormality,integument,nervous_system,neurodevelopmental | U105 | PMID:31801603 | hg19 | yes | no |
| chr17 | 34815551 | chr17 | 36307189 | Deletion | nervous_system,neurodevelopmental | U108 | PMID:31801603 | hg19 | yes | no |
| chr17 | 43683422 | chr17 | 44356361 | Duplication | behaviour_neurological_cognitive,growth_abnormality,nervous_system,neurodevelopmental | U109 | PMID:31801603 | hg19 | yes | no |
| chr1 | 146501348 | chr1 | 147826789 | Deletion | growth_abnormality,nervous_system,neurodevelopmental | U11 | PMID:31801603 | hg19 | yes | no |
| chr18 | 63444300 | chr18 | 63507383 | Duplication | nervous_system,neurodevelopmental | U110 | PMID:31801603 | hg19 | yes | no |
| chr18 | 71844700 | chr18 | 78004048 | Deletion | cardiovascular | U111 | PMID:31801603 | hg19 | yes | no |
| chr19 | 1053677 | chr19 | 1638919 | Deletion | integument,nervous_system,neurodevelopmental | U112.1 | PMID:31801603 | hg19 | yes | no |
| chr20 | 62117518 | chr20 | 62227081 | Duplication | integument,nervous_system,neurodevelopmental | U112.2 | PMID:31801603 | hg19 | yes | no |
| chr19 | 16438039 | chr19 | 17492824 | Deletion | head_neck,limbs,nervous_system,neurodevelopmental,skeletal_system,vision_eye | U114 | PMID:31801603 | hg19 | yes | no |
| chr19 | 47694411 | chr19 | 47834105 | Deletion | limbs | U115 | PMID:31801603 | hg19 | yes | no |
| chr19 | 54186822 | chr19 | 54603146 | Duplication | cardiovascular,head_neck,musculature,nervous_system,neurodevelopmental,skeletal_system | U116 | PMID:31801603 | hg19 | yes | no |
| chr19 | 55099595 | chr19 | 56626448 | Deletion | head_neck,hearing_ear,nervous_system,neurodevelopmental | U117 | PMID:31801603 | hg19 | yes | no |
| chr20 | 63244 | chr20 | 772614 | Deletion | growth_abnormality,nervous_system,neurodevelopmental | U118 | PMID:31801603 | hg19 | yes | no |
| chr20 | 8863372 | chr20 | 17890976 | Duplication | nervous_system,neurodevelopmental | U119 | PMID:31801603 | hg19 | yes | no |
| chr1 | 153751264 | chr1 | 154439066 | Deletion | head_neck,musculature,nervous_system,neurodevelopmental,skeletal_system | U12.1 | PMID:31801603 | hg19 | yes | no |
| chr3 | 195633769 | chr3 | 197837189 | Duplication | head_neck,musculature,nervous_system,neurodevelopmental,skeletal_system | U12.2 | PMID:31801603 | hg19 | yes | no |
| chr22 | 18624958 | chr22 | 20312668 | Deletion | nervous_system,neurodevelopmental | U120 | PMID:31801603 | hg19 | yes | no |
| chr22 | 18844632 | chr22 | 21174444 | Deletion | nervous_system,neurodevelopmental | U121 | PMID:31801603 | hg19 | yes | no |
| chr22 | 18861748 | chr22 | 21463730 | Deletion | growth_abnormality,nervous_system,neurodevelopmental | U122 | PMID:31801603 | hg19 | yes | no |
| chr22 | 18886915 | chr22 | 20312668 | Deletion | nervous_system,neurodevelopmental | U123 | PMID:31801603 | hg19 | yes | no |
| chr22 | 18886915 | chr22 | 21462353 | Duplication | nervous_system,neurodevelopmental | U124 | PMID:31801603 | hg19 | yes | no |
| chr22 | 18886915 | chr22 | 21463730 | Deletion | cardiovascular,nervous_system,neurodevelopmental | U125 | PMID:31801603 | hg19 | yes | no |
| chr22 | 18886915 | chr22 | 21463730 | Deletion | head_neck | U126 | PMID:31801603 | hg19 | yes | no |
| chr22 | 18886915 | chr22 | 21463730 | Deletion | nervous_system,neurodevelopmental | U127 | PMID:31801603 | hg19 | yes | no |
| chr22 | 18886915 | chr22 | 21463730 | Deletion | cardiovascular,head_neck,nervous_system,neurodevelopmental | U128 | PMID:31801603 | hg19 | yes | no |
| chr22 | 18886915 | chr22 | 21463730 | Duplication | genitourinary_system,growth_abnormality,head_neck,nervous_system,neurodevelopmental,reproductive_system,urinary_system | U129 | PMID:31801603 | hg19 | yes | no |
| chr1 | 241907691 | chr1 | 249218992 | Deletion | head_neck,nervous_system,skeletal_system | U13 | PMID:31801603 | hg19 | yes | no |
| chr22 | 18886915 | chr22 | 21463730 | Duplication | growth_abnormality,nervous_system,neurodevelopmental | U130 | PMID:31801603 | hg19 | yes | no |
| chr22 | 18886915 | chr22 | 21463730 | Deletion | cardiovascular,genitourinary_system,growth_abnormality,urinary_system | U131 | PMID:31801603 | hg19 | yes | no |
| chr22 | 18886915 | chr22 | 21463730 | Deletion | cardiovascular,head_neck,limbs | U132 | PMID:31801603 | hg19 | yes | no |
| chr22 | 18886915 | chr22 | 21809185 | Duplication | behaviour_neurological_cognitive,head_neck,hearing_ear,nervous_system | U133 | PMID:31801603 | hg19 | yes | no |
| chr22 | 18895227 | chr22 | 21463730 | Duplication | hearing_ear,nervous_system,neurodevelopmental | U134 | PMID:31801603 | hg19 | yes | no |
| chr22 | 21024880 | chr22 | 22467906 | Duplication | nervous_system,neurodevelopmental | U136 | PMID:31801603 | hg19 | yes | no |
| chr22 | 21797812 | chr22 | 22941426 | Deletion | cardiovascular,growth_abnormality,head_neck,nervous_system,skeletal_system,vision_eye | U137 | PMID:31801603 | hg19 | yes | no |
| chr22 | 42245763 | chr22 | 42709334 | Deletion | growth_abnormality,integument,musculature,nervous_system,neurodevelopmental | U138 | PMID:31801603 | hg19 | yes | no |
| chr22 | 44595562 | chr22 | 51195728 | Deletion | head_neck,nervous_system,neurodevelopmental,skeletal_system | U139 | PMID:31801603 | hg19 | yes | no |
| chr22 | 45428606 | chr22 | 51195728 | Deletion | nervous_system,neurodevelopmental | U140 | PMID:31801603 | hg19 | yes | no |
| chr22 | 50868013 | chr22 | 51211392 | Deletion | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | U141 | PMID:31801603 | hg19 | yes | no |
| chr22 | 50961786 | chr22 | 51211392 | Deletion | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | U142 | PMID:31801603 | hg19 | yes | no |
| chr22 | 51149973 | chr22 | 51195728 | Deletion | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | U143 | PMID:31801603 | hg19 | yes | no |
| chrX | 60814 | chrX | 2697868 | Duplication | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | U144.1 | PMID:31801603 | hg19 | yes | no |
| chrX | 154933691 | chrX | 155236712 | Duplication | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | U144.2 | PMID:31801603 | hg19 | yes | no |
| chrX | 6447911 | chrX | 8135053 | Duplication | cardiovascular | U145 | PMID:31801603 | hg19 | yes | no |
| chrX | 6447911 | chrX | 8135053 | Duplication | nervous_system,neurodevelopmental | U146.1 | PMID:31801603 | hg19 | yes | no |
| chrX | 6451799 | chrX | 8135053 | Duplication | nervous_system,neurodevelopmental | U146.2 | PMID:31801603 | hg19 | yes | no |
| chrX | 6451799 | chrX | 8135053 | Duplication | limbs,skeletal_system | U147 | PMID:31801603 | hg19 | yes | no |
| chrX | 6451799 | chrX | 8135053 | Deletion | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | U148 | PMID:31801603 | hg19 | yes | no |
| chrX | 6456940 | chrX | 8135053 | Duplication | nervous_system,neurodevelopmental | U149 | PMID:31801603 | hg19 | yes | no |
| chr2 | 50786770 | chr2 | 51437416 | Deletion | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | U15 | PMID:31801603 | hg19 | yes | no |
| chrX | 6456940 | chrX | 8135053 | Duplication | cardiovascular,head_neck | U150 | PMID:31801603 | hg19 | yes | no |
| chrX | 99655165 | chrX | 99659150 | Deletion | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | U152 | PMID:31801603 | hg19 | yes | no |
| chrX | 153171277 | chrX | 153626441 | Duplication | limbs,nervous_system,neurodevelopmental,skeletal_system | U153 | PMID:31801603 | hg19 | yes | no |
| chrX | 153196094 | chrX | 153627297 | Duplication | nervous_system,neurodevelopmental | U154.1 | PMID:31801603 | hg19 | yes | no |
| chrX | 153216976 | chrX | 153605061 | Duplication | nervous_system,neurodevelopmental | U154.2 | PMID:31801603 | hg19 | yes | no |
| chr2 | 60603888 | chr2 | 63402212 | Duplication | head_neck,nervous_system,neurodevelopmental,skeletal_system | U16 | PMID:31801603 | hg19 | yes | no |
| chr2 | 148740833 | chr2 | 148847007 | Deletion | nervous_system,neurodevelopmental | U17 | PMID:31801603 | hg19 | yes | no |
| chr2 | 148771763 | chr2 | 148844875 | Deletion | nervous_system,neurodevelopmental | U18 | PMID:31801603 | hg19 | yes | no |
| chr2 | 179554305 | chr2 | 179915438 | Deletion | cardiovascular,growth_abnormality | U19 | PMID:31801603 | hg19 | yes | no |
| chr1 | 115212572 | chr1 | 119431014 | Deletion | growth_abnormality,nervous_system,neurodevelopmental | U2 | PMID:31801603 | hg19 | yes | no |
| chr2 | 200053196 | chr2 | 201616442 | Deletion | behaviour_neurological_cognitive,head_neck,nervous_system,neurodevelopmental | U20 | PMID:31801603 | hg19 | yes | no |
| chr2 | 240176033 | chr2 | 243048760 | Deletion | nervous_system,neurodevelopmental | U21 | PMID:31801603 | hg19 | yes | no |
| chr2 | 241846140 | chr2 | 243048760 | Deletion | genitourinary_system,growth_abnormality,nervous_system,neurodevelopmental,reproductive_system | U22.1 | PMID:31801603 | hg19 | yes | no |
| chr16 | 87439169 | chr16 | 90274695 | Duplication | genitourinary_system,growth_abnormality,nervous_system,neurodevelopmental,reproductive_system | U22.2 | PMID:31801603 | hg19 | yes | no |
| chr4 | 171082172 | chr4 | 175828036 | Deletion | cardiovascular,integument,limbs | U23.1 | PMID:31801603 | hg19 | yes | no |
| chr4 | 171089568 | chr4 | 175817225 | Deletion | cardiovascular,integument,limbs | U23.2 | PMID:31801603 | hg19 | yes | no |
| chr5 | 54904720 | chr5 | 56671715 | Deletion | growth_abnormality,head_neck | U24 | PMID:31801603 | hg19 | yes | no |
| chr5 | 86619522 | chr5 | 86686905 | Deletion | cardiovascular,integument,nervous_system | U25 | PMID:31801603 | hg19 | yes | no |
| chr6 | 87973708 | chr6 | 94402239 | Deletion | nervous_system,neurodevelopmental | U26 | PMID:31801603 | hg19 | yes | no |
| chr6 | 148467702 | chr6 | 148981394 | Duplication | growth_abnormality,head_neck,nervous_system,neurodevelopmental,skeletal_system | U27 | PMID:31801603 | hg19 | yes | no |
| chr7 | 72722981 | chr7 | 74141840 | Duplication | growth_abnormality,head_neck,skeletal_system | U29.1 | PMID:31801603 | hg19 | yes | no |
| chr7 | 72722981 | chr7 | 74145064 | Duplication | growth_abnormality,head_neck,skeletal_system | U29.2 | PMID:31801603 | hg19 | yes | no |
| chr1 | 145101177 | chr1 | 147826789 | Deletion | nervous_system,neurodevelopmental | U3 | PMID:31801603 | hg19 | yes | no |
| chr7 | 72722981 | chr7 | 74141840 | Deletion | growth_abnormality,head_neck,nervous_system,neurodevelopmental | U30 | PMID:31801603 | hg19 | yes | no |
| chr7 | 73150511 | chr7 | 73753250 | Deletion | cardiovascular | U32 | PMID:31801603 | hg19 | yes | no |
| chr8 | 164984 | chr8 | 6329410 | Deletion | cardiovascular,genitourinary_system,urinary_system | U34 | PMID:31801603 | hg19 | yes | no |
| chr8 | 8105359 | chr8 | 11898209 | Deletion | behaviour_neurological_cognitive,cardiovascular,nervous_system,neurodevelopmental | U35 | PMID:31801603 | hg19 | yes | no |
| chr8 | 100123356 | chr8 | 100339633 | Deletion | head_neck,musculature,nervous_system,neurodevelopmental | U37 | PMID:31801603 | hg19 | yes | no |
| chr8 | 138612206 | chr8 | 146293414 | Duplication | nervous_system,neurodevelopmental | U38 | PMID:31801603 | hg19 | yes | no |
| chr8 | 145030797 | chr8 | 146112746 | Duplication | behaviour_neurological_cognitive,head_neck,nervous_system,neurodevelopmental | U39 | PMID:31801603 | hg19 | yes | no |
| chr1 | 145101177 | chr1 | 147826789 | Deletion | nervous_system,neurodevelopmental | U4 | PMID:31801603 | hg19 | yes | no |
| chr9 | 3197716 | chr9 | 3239762 | Deletion | nervous_system,neurodevelopmental | U40 | PMID:31801603 | hg19 | yes | no |
| chr9 | 35497219 | chr9 | 38382340 | Deletion | nervous_system,neurodevelopmental | U41 | PMID:31801603 | hg19 | yes | no |
| chr9 | 92067803 | chr9 | 98858735 | Duplication | growth_abnormality,nervous_system,neurodevelopmental | U42 | PMID:31801603 | hg19 | yes | no |
| chr9 | 96052179 | chr9 | 98211720 | Deletion | genitourinary_system,head_neck,musculature,nervous_system,neurodevelopmental,skeletal_system,urinary_system | U43 | PMID:31801603 | hg19 | yes | no |
| chr9 | 105904199 | chr9 | 114366248 | Deletion | endocrine,growth_abnormality,nervous_system,neurodevelopmental,vision_eye | U44 | PMID:31801603 | hg19 | yes | no |
| chr9 | 114960138 | chr9 | 123886277 | Deletion | head_neck,nervous_system,neurodevelopmental | U45 | PMID:31801603 | hg19 | yes | no |
| chr10 | 13785400 | chr10 | 20941111 | Deletion | nervous_system,neurodevelopmental | U46 | PMID:31801603 | hg19 | yes | no |
| chr11 | 76854587 | chr11 | 76921358 | Deletion | nervous_system,neurodevelopmental | U47 | PMID:31801603 | hg19 | yes | no |
| chr11 | 118827655 | chr11 | 120953914 | Duplication | behaviour_neurological_cognitive,head_neck,nervous_system,skeletal_system | U48 | PMID:31801603 | hg19 | yes | no |
| chr1 | 145762959 | chr1 | 147826789 | Deletion | behaviour_neurological_cognitive,head_neck,nervous_system,neurodevelopmental | U5 | PMID:31801603 | hg19 | yes | no |
| chr12 | 49328962 | chr12 | 49555414 | Duplication | genitourinary_system,head_neck,nervous_system,reproductive_system,vision_eye | U50 | PMID:31801603 | hg19 | yes | no |
| chr12 | 116419988 | chr12 | 116460600 | Deletion | head_neck,nervous_system,neurodevelopmental | U51 | PMID:31801603 | hg19 | yes | no |
| chr13 | 19774848 | chr13 | 20270925 | Duplication | cardiovascular,nervous_system,neurodevelopmental | U52 | PMID:31801603 | hg19 | yes | no |
| chr14 | 100638235 | chr14 | 101278778 | Deletion | musculature,nervous_system,neurodevelopmental | U53 | PMID:31801603 | hg19 | yes | no |
| chr15 | 22299434 | chr15 | 23226254 | Duplication | head_neck,skeletal_system | U55 | PMID:31801603 | hg19 | yes | no |
| chr15 | 22299434 | chr15 | 23272733 | Deletion | nervous_system,neurodevelopmental | U56 | PMID:31801603 | hg19 | yes | no |
| chr15 | 22299434 | chr15 | 23272733 | Deletion | growth_abnormality,integument,nervous_system,neurodevelopmental | U57 | PMID:31801603 | hg19 | yes | no |
| chr15 | 22299434 | chr15 | 23272733 | Duplication | integument,nervous_system,neurodevelopmental | U58 | PMID:31801603 | hg19 | yes | no |
| chr15 | 22299434 | chr15 | 28535266 | Deletion | nervous_system,neurodevelopmental | U59 | PMID:31801603 | hg19 | yes | no |
| chr1 | 146089268 | chr1 | 147825454 | Duplication | head_neck,nervous_system,neurodevelopmental | U6 | PMID:31801603 | hg19 | yes | no |
| chr15 | 22663383 | chr15 | 23226254 | Deletion | behaviour_neurological_cognitive,growth_abnormality,nervous_system,neurodevelopmental | U61 | PMID:31801603 | hg19 | yes | no |
| chr15 | 23667412 | chr15 | 28532120 | Duplication | cardiovascular,nervous_system,neurodevelopmental | U64 | PMID:31801603 | hg19 | yes | no |
| chr15 | 23697376 | chr15 | 28532120 | Duplication | head_neck,nervous_system,neurodevelopmental | U65 | PMID:31801603 | hg19 | yes | no |
| chr15 | 30369914 | chr15 | 32514341 | Deletion | head_neck,nervous_system,neurodevelopmental | U66 | PMID:31801603 | hg19 | yes | no |
| chr15 | 30369914 | chr15 | 32514341 | Deletion | growth_abnormality,nervous_system,neurodevelopmental | U67 | PMID:31801603 | hg19 | yes | no |
| chr15 | 30611102 | chr15 | 32833659 | Duplication | nervous_system,neurodevelopmental | U68 | PMID:31801603 | hg19 | yes | no |
| chr15 | 30657952 | chr15 | 32514341 | Deletion | head_neck,nervous_system,neurodevelopmental,skeletal_system | U69 | PMID:31801603 | hg19 | yes | no |
| chr1 | 146089268 | chr1 | 147826789 | Deletion | behaviour_neurological_cognitive,head_neck,nervous_system | U7 | PMID:31801603 | hg19 | yes | no |
| chr15 | 30657952 | chr15 | 32514341 | Duplication | head_neck,nervous_system | U70 | PMID:31801603 | hg19 | yes | no |
| chr15 | 30657952 | chr15 | 32514341 | Deletion | nervous_system,neurodevelopmental | U71 | PMID:31801603 | hg19 | yes | no |
| chr15 | 30737344 | chr15 | 32620127 | Deletion | nervous_system,neurodevelopmental | U72 | PMID:31801603 | hg19 | yes | no |
| chr15 | 30936285 | chr15 | 32514341 | Deletion | nervous_system,neurodevelopmental | U73 | PMID:31801603 | hg19 | yes | no |
| chr15 | 30943512 | chr15 | 32514341 | Deletion | growth_abnormality,head_neck,nervous_system,neurodevelopmental | U74 | PMID:31801603 | hg19 | yes | no |
| chr15 | 35063868 | chr15 | 38907041 | Deletion | head_neck,integument,limbs,nervous_system,neurodevelopmental,skeletal_system | U75 | PMID:31801603 | hg19 | yes | no |
| chr15 | 98755723 | chr15 | 102461162 | Deletion | growth_abnormality,head_neck | U76 | PMID:31801603 | hg19 | yes | no |
| chr16 | 2049640 | chr16 | 2116980 | Deletion | cardiovascular | U77 | PMID:31801603 | hg19 | yes | no |
| chr16 | 14968859 | chr16 | 16306563 | Duplication | behaviour_neurological_cognitive,growth_abnormality,nervous_system,neurodevelopmental | U78 | PMID:31801603 | hg19 | yes | no |
| chr16 | 14975292 | chr16 | 16291983 | Deletion | nervous_system,neurodevelopmental | U79 | PMID:31801603 | hg19 | yes | no |
| chr1 | 146089268 | chr1 | 148003653 | Deletion | nervous_system,neurodevelopmental | U8 | PMID:31801603 | hg19 | yes | no |
| chr16 | 14975292 | chr16 | 16291983 | Deletion | growth_abnormality,head_neck,nervous_system,neurodevelopmental,skeletal_system | U80 | PMID:31801603 | hg19 | yes | no |
| chr16 | 15092778 | chr16 | 16279714 | Duplication | nervous_system,neurodevelopmental | U81 | PMID:31801603 | hg19 | yes | no |
| chr16 | 15493046 | chr16 | 16311466 | Duplication | nervous_system,neurodevelopmental | U82 | PMID:31801603 | hg19 | yes | no |
| chr16 | 28484556 | chr16 | 30198151 | Deletion | growth_abnormality,nervous_system,neurodevelopmental | U83 | PMID:31801603 | hg19 | yes | no |
| chr16 | 28825605 | chr16 | 29043450 | Deletion | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | U84 | PMID:31801603 | hg19 | yes | no |
| chr16 | 28825605 | chr16 | 29043450 | Deletion | head_neck,nervous_system,neurodevelopmental,skeletal_system,vision_eye | U86 | PMID:31801603 | hg19 | yes | no |
| chr16 | 29412503 | chr16 | 30215621 | Deletion | cardiovascular,nervous_system,neurodevelopmental | U87 | PMID:31801603 | hg19 | yes | no |
| chr16 | 29595483 | chr16 | 30192561 | Deletion | nervous_system,neurodevelopmental | U88 | PMID:31801603 | hg19 | yes | no |
| chr16 | 29595483 | chr16 | 30198151 | Deletion | growth_abnormality,head_neck | U89 | PMID:31801603 | hg19 | yes | no |
| chr1 | 146501348 | chr1 | 147825548 | Deletion | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | U9 | PMID:31801603 | hg19 | yes | no |
| chr16 | 29595483 | chr16 | 30198151 | Deletion | nervous_system,neurodevelopmental | U90 | PMID:31801603 | hg19 | yes | no |
| chr16 | 29595483 | chr16 | 30198151 | Deletion | nervous_system,neurodevelopmental | U91 | PMID:31801603 | hg19 | yes | no |
| chr16 | 29595483 | chr16 | 30367820 | Duplication | genitourinary_system,head_neck,urinary_system | U92 | PMID:31801603 | hg19 | yes | no |
| chr16 | 29656484 | chr16 | 30199507 | Deletion | behaviour_neurological_cognitive,growth_abnormality,nervous_system,neurodevelopmental | U93 | PMID:31801603 | hg19 | yes | no |
| chr16 | 30094180 | chr16 | 30714273 | Duplication | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | U94.1 | PMID:31801603 | hg19 | yes | no |
| chr16 | 71439049 | chr16 | 71965196 | Duplication | behaviour_neurological_cognitive,nervous_system,neurodevelopmental | U94.2 | PMID:31801603 | hg19 | yes | no |
| chr16 | 81818860 | chr16 | 90274695 | Duplication | growth_abnormality,head_neck,nervous_system,neurodevelopmental | U96 | PMID:31801603 | hg19 | yes | no |
| chr16 | 85009291 | chr16 | 90163275 | Duplication | head_neck,nervous_system,neurodevelopmental | U97 | PMID:31801603 | hg19 | yes | no |
| chr16 | 87355667 | chr16 | 87466943 | Deletion | nervous_system,neurodevelopmental | U98 | PMID:31801603 | hg19 | yes | no |
| chr17 | 8547 | chr17 | 3393086 | Deletion | embryo_prenatal,limbs | U99 | PMID:31801603 | hg19 | yes | no |
Run prediction with the Structural Variant of interest
User Guide
- What is POSTRE?
- Single SV Submission
- Multiple SV Submission
- Explore Previous SVs
- Pathogenic score calculation
- Cell Types/Tissues considered per Phenotype
- Reference genome - GRCh37/hg19
- How to install POSTRE?
- POSTRE latest news - Github
- Can we help you?
What is POSTRE?
POSTRE is a software developed to predict the pathogenic impact of Structural Variants (SVs). POSTRE aims to identify the genes responsible for the disease together with the pathological mechanism. In parallel, it determines the SV associated pathogenic events in space and time through performing cell type/tissue specific predictions. POSTRE is able to handle long-range (enhancer driven) and coding pathogenic events. If you want to know more about POSTRE, check our manuscript here.
Single SV Submission
Watch POSTRE performance with a real patient in the following YouTube video. Reproduce it in Full Screen and High Quality (1080p) for optimal visualization. For this patient, with BOFS syndrome carrying an inversion (Laugsch et al., 2019), POSTRE successfully predicts the loss of TFAP2A expression in neural crest cells through an enhancer disconnection mechanism.
By default POSTRE presents in the Single SV Submission box the information for the BOFS patient described in the previous video Laugsch et al. 2019. To see POSTRE results for this structural variant, click the Submit button in the the Single SV Submission page.
In addition, you can find in the table below the description for a set of 10 patients with pathogenic structural variants and a broad variety of responsible mechanisms. You can run the prediction for those genetic rearrangements with the help of the submission box located below the table.
| SV ID | SV Type | Mechanism | Phenotype | Reference |
|---|---|---|---|---|
| TFAP2A Patient | Inversion | TFAP2A pathogenic downregulation due to enhancer disconnection | Craniofacial | Laugsch et al. 2019 |
| SOX9 Patient | Deletion | SOX9 pathogenic downregulation due to enhancer deletion | Craniofacial | Long et al. 2020 |
| KCNJ2 Patient | Duplication | KCNJ2 pathogenic upregulation due to enhancer adoption through NeoTad formation | Limb | Franke et al. 2016 |
| PAX3 Patient | Deletion | PAX3 pathogenic upregulation due to enhancer adoption through TAD fusion | Limb | Lupiáñez et al. 2015 |
| IHH Patient | Duplication | IHH pathogenic upregulation due to enhancer adoption through NeoTad formation | Limb | Lupiáñez et al. 2015 |
| SATB2 Del Patient | Deletion | SATB2 deletion responsible of neurodevelopmental alteration | Neurodevelopmental | Balasubramanian et al. 2011 |
| SATB2 Trunc Patient | Deletion | SATB2 truncation responsible of neurodevelopmental alteration | Neurodevelopmental | Rainger et al. 2013 |
| SATB2 LR Patient | Translocation | SATB2 pathogenic downregulation due to enhancer disconnection | Neurodevelopmental | Rainger et al. 2013 |
| FOXG1 Patient | Translocation | FOXG1 pathogenic downregulation due to enhancer disconnection | Neurodevelopmental | Mehrjouy et al. 2017 |
| TBX3&5 Patient | Deletion | Cardiovascular deffect triggered by the additive effect of the deletion of TBX3 and TBX5 | Cardiovascular | Alby et al. 2013 |
Run prediction with the structural variant of interest
Multiple SV Submission
The Multiple SV Submission box allows the sequential analysis of multiple structural variants (results can be downloaded as txt tables). The SVs may come from just one or multiple patients. The SVs information has to be uploaded in a specific format. The file format consists on 1 line and 7 columns per structural variant. Each structural variant must contain only two breakpoints. The information associated with each column is provided below:Note: For the case of structural variants happening strictly in one chromosome (deletions, inversions, duplications) the breakpoint 1 is the one associated with a smaller genomic coordinate, and the breakpoint 2 the one associated with a larger genomic coordinate. For translocations, it does not matter.
- Column 1: Chromosome for the breakpoint 1
- Column 2: Genomic coordinates for the breakpoint 1. When not base pair resolution, provide a comma separated range, e.g. 85092268,85092269.
- Column 3: Chromosome for the breakpoint 2
- Column 4: Genomic coordinates for the breakpoint 2. When not base pair resolution, provide a comma separated range, e.g. 85092268,85092269.
- Column 5: Structural Variant Type. Current options: Inversion, Translocation, Deletion or Duplication.
- Column 6: Comma separated list of phenotypes associated with the structural variant. Current options are: head_neck, limbs, neurodevelopmental, cardiovascular, vision_eye or liver_biliary_system. For instance: head_neck,neurodevelopmental,cardiovascular.
- Column 7: Structural variant unique identifier e.g. (Patient1_SV3)
An example file can be downloaded here. Additional test files can also be downloaded from the GitHub-testFiles folder (to download them: (1) click on the file of interest, (2) right-click the "Raw" button at the top of the file, (3) select Save Link As…, (4) choose the location on your computer where you want to save the file, and (5) select Save).
Upon the analysis of multiple SVs two main tables are provided. The first one (Results per SV and phenotype) is a table with a pathogenic prediction for each of the SVs and associated phenotypes analyzed. The second one (Results per gene and phenotype) is an aggregation of the pathogenic predictions per gene, phenotype and pathogenic mechanism (coding, long-range). Perform a Multiple SV Submission with one of the test files and check "How to navigate through this page?" section for more details.
A tutorial video showing how to perform and interpret results for a Multiple SV Submission analysis is provided in the following video.
Explore Previous SVs
The Explore Previous SVs page presents the results for the analysis of SVs from different sources/databases. Current results come from the analysis of SVs from (Redin et al., 2017) and (Middelkamp et al., 2019). Only results for SVs where pathogenicity has been predicted are shown.Pathogenic score calculation
To get a simplified explanation of POSTRE pathogenic score calculation, please visit the following file .
Cell Types/Tissues considered per Phenotype
If you want to know more about the different cell types/tissues considered for each phenotype, check the Cell types/tissues per phenotype File .Are you missing some data? Do you want us to add some data which might be profitable for your research? Tell us about it through postre.radaiglesiaslab@gmail.com