Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000419474 [[23990065, 23992150], [23992411, 23995888], [23996055, 23996182], [23996812, 23997013], [23998918, 23998977], [23999328, 23999403], [24000689, 24000930], [24001775, 24002293], [24002493, 24004583], [24020551, 24020858]] [[23991170, 23992150], [23992411, 23995888], [23996055, 23996182], [23996812, 23997013], [23998918, 23998977], [23999328, 23999403], [24000689, 24000930], [24001775, 24002293], [24002493, 24004534]]
ENST00000606808 [[23990211, 23990546], [23990936, 23991057]] None
ENST00000412565 [[24003450, 24004583], [24024931, 24025401]] [[24003450, 24004534]]
ENST00000555334 [[24003794, 24004583], [24007223, 24007315], [24017595, 24017663]] [[24003794, 24004534]]
NM_033400 [[23990063, 23992150], [23992411, 23995888], [23996055, 23996182], [23996812, 23997013], [23998918, 23998977], [23999328, 23999403], [24000689, 24000930], [24001775, 24002293], [24002493, 24004583], [24020551, 24020858]] [[23991170, 23992150], [23992411, 23995888], [23996055, 23996182], [23996812, 23997013], [23998918, 23998977], [23999328, 23999403], [24000689, 24000930], [24001775, 24002293], [24002493, 24004534]]
Promoter
Chrom Start End Description
chr14 24017647 24017657 CAGE_peak_15_at_ZFHX2_5end
chr14 24020596 24020624 CAGE_peak_3_at_ZFHX2_5end
chr14 24020938 24020988 CAGE_peak_1_at_ZFHX2_5end
chr14 24025106 24025172 CAGE_peak_2_at_ZFHX2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I023536 23536306 23540137 1.42 [{'connected_gene': 'AP1G2', 'score': 24.46}, {'connected_gene': 'THTPA', 'score': 11.78}, {'connected_gene': 'MYH6', 'score': 10.17}, {'connected_gene': 'ZFHX2', 'score': 5.62}, {'connected_gene': 'JPH4', 'score': 3.65}, {'connected_gene': 'CMTM5', 'score': 2.93}, {'connected_gene': 'SLC22A17', 'score': 2.23}, {'connected_gene': 'DHRS4L2', 'score': 1.54}, {'connected_gene': 'ENSG00000273618', 'score': 0.44}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.31}]
chr14 GH14I023550 23550179 23552361 1.99 [{'connected_gene': 'ZFHX2', 'score': 550.77}, {'connected_gene': 'AP1G2', 'score': 23.31}, {'connected_gene': 'KHNYN', 'score': 21.83}, {'connected_gene': 'ACIN1', 'score': 19.31}, {'connected_gene': 'RNA5SP383', 'score': 15.82}, {'connected_gene': 'TM9SF1', 'score': 14.36}, {'connected_gene': 'RNF31', 'score': 14.03}, {'connected_gene': 'LOC102724814', 'score': 13.36}, {'connected_gene': 'TINF2', 'score': 13.17}, {'connected_gene': 'CIDEB', 'score': 12.88}, {'connected_gene': 'PRMT5', 'score': 12.25}, {'connected_gene': 'RBM23', 'score': 12.17}, {'connected_gene': 'HAUS4', 'score': 11.82}, {'connected_gene': 'C14orf93', 'score': 11.72}, {'connected_gene': 'NGDN', 'score': 11.21}, {'connected_gene': 'MMP14', 'score': 10.64}, {'connected_gene': 'ENSG00000259321', 'score': 10.09}, {'connected_gene': 'ENSG00000273618', 'score': 0.34}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.28}, {'connected_gene': 'THTPA', 'score': 0.28}]
chr14 GH14I023546 23546582 23546634 0.22 [{'connected_gene': 'ZFHX2', 'score': 2.94}, {'connected_gene': 'JPH4', 'score': 1.97}, {'connected_gene': 'SLC22A17', 'score': 1.31}, {'connected_gene': 'ENSG00000273618', 'score': 0.37}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.29}, {'connected_gene': 'THTPA', 'score': 0.29}]
chr14 GH14I023555 23555269 23559997 2.07 [{'connected_gene': 'ZFHX2', 'score': 550.77}, {'connected_gene': 'THTPA', 'score': 550.25}, {'connected_gene': 'AP1G2', 'score': 23.44}, {'connected_gene': 'DHRS4-AS1', 'score': 4.53}, {'connected_gene': 'LOC102724814', 'score': 0.77}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.25}]
chr14 GH14I023528 23528236 23528902 0.43 [{'connected_gene': 'ZFHX2', 'score': 11.42}, {'connected_gene': 'H3F3AP2', 'score': 5.14}, {'connected_gene': 'ENSG00000273618', 'score': 0.77}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.37}, {'connected_gene': 'THTPA', 'score': 0.37}]
chr14 GH14I023493 23493235 23494986 0.6 [{'connected_gene': 'ZFHX2', 'score': 11.16}, {'connected_gene': 'MYH6', 'score': 10.49}, {'connected_gene': 'NGDN', 'score': 6.4}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.37}, {'connected_gene': 'THTPA', 'score': 0.37}]
chr14 GH14I023492 23492792 23492941 0.87 [{'connected_gene': 'ZFHX2', 'score': 11.16}, {'connected_gene': 'MYH6', 'score': 10.5}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.37}, {'connected_gene': 'THTPA', 'score': 0.37}, {'connected_gene': 'NGDN', 'score': 0.34}]
chr14 GH14I023588 23588632 23589784 1.21 [{'connected_gene': 'ZFHX2', 'score': 11.61}, {'connected_gene': 'ZFHX2-AS1', 'score': 11.5}, {'connected_gene': 'JPH4', 'score': 0.39}, {'connected_gene': 'ENSG00000274002', 'score': 0.31}]
chr14 GH14I023581 23581212 23581341 0.67 [{'connected_gene': 'ZFHX2', 'score': 11.34}, {'connected_gene': 'ZFHX2-AS1', 'score': 11.24}, {'connected_gene': 'JPH4', 'score': 0.77}, {'connected_gene': 'ENSG00000274002', 'score': 0.28}]
chr14 GH14I023547 23547063 23547371 0.38 [{'connected_gene': 'ZFHX2', 'score': 0.44}, {'connected_gene': 'ENSG00000273618', 'score': 0.37}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.28}, {'connected_gene': 'THTPA', 'score': 0.28}]
chr14 GH14I023527 23527313 23527649 0.2 [{'connected_gene': 'ZFHX2', 'score': 11.42}, {'connected_gene': 'ENSG00000273618', 'score': 0.77}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.37}, {'connected_gene': 'THTPA', 'score': 0.37}]
chr14 GH14I023650 23650452 23650601 0.38 [{'connected_gene': 'ZFHX2', 'score': 10.32}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.28}, {'connected_gene': 'LOC105370407', 'score': 0.44}, {'connected_gene': 'GC14P024212', 'score': 0.44}]
chr14 GH14I023652 23652762 23654163 0.31 [{'connected_gene': 'ZFHX2', 'score': 10.37}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.33}, {'connected_gene': 'LOC105370407', 'score': 0.44}, {'connected_gene': 'GC14P024212', 'score': 0.39}]
chr14 GH14I023601 23601734 23603288 0.89 [{'connected_gene': 'ZFHX2', 'score': 10.68}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.6}, {'connected_gene': 'MIR208B', 'score': 9.78}, {'connected_gene': 'ENSG00000274002', 'score': 0.37}, {'connected_gene': 'JPH4', 'score': 0.34}]
chr14 GH14I022976 22976101 22983710 2.7 [{'connected_gene': 'AJUBA', 'score': 559.71}, {'connected_gene': 'ACIN1', 'score': 200.69}, {'connected_gene': 'NGDN', 'score': 160.15}, {'connected_gene': 'PRMT5', 'score': 113.21}, {'connected_gene': 'C14orf93', 'score': 102.87}, {'connected_gene': 'HAUS4', 'score': 99.95}, {'connected_gene': 'RBM23', 'score': 96.86}, {'connected_gene': 'LOC102724814', 'score': 66.99}, {'connected_gene': 'PABPN1', 'score': 57.08}, {'connected_gene': 'MMP14', 'score': 56.15}, {'connected_gene': 'SLC22A17', 'score': 39.22}, {'connected_gene': 'C14orf119', 'score': 31.52}, {'connected_gene': 'CDH24', 'score': 31.24}, {'connected_gene': 'HOMEZ', 'score': 26.97}, {'connected_gene': 'ABHD4', 'score': 19.32}, {'connected_gene': 'PSMB5', 'score': 15.09}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'ENSG00000258458', 'score': 11.41}, {'connected_gene': 'PSMB11', 'score': 11.06}, {'connected_gene': 'ZFHX2', 'score': 10.73}, {'connected_gene': 'THTPA', 'score': 10.69}, {'connected_gene': 'ENSG00000258457', 'score': 10.44}, {'connected_gene': 'PRMT5-AS1', 'score': 10.07}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.04}, {'connected_gene': 'BCL2L2', 'score': 10.02}, {'connected_gene': 'MRPL52', 'score': 4.28}, {'connected_gene': 'ENSG00000259132', 'score': 0.77}]
chr14 GH14I023577 23577706 23579866 1.17 [{'connected_gene': 'JPH4', 'score': 555.48}, {'connected_gene': 'ZFHX2', 'score': 11.37}, {'connected_gene': 'ZFHX2-AS1', 'score': 11.24}, {'connected_gene': 'DHRS4-AS1', 'score': 4.96}, {'connected_gene': 'AP1G2', 'score': 0.44}]
chr14 GH14I023608 23608392 23615122 1.15 [{'connected_gene': 'JPH4', 'score': 11.39}, {'connected_gene': 'ZFHX2', 'score': 10.8}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.73}, {'connected_gene': 'DHRS4-AS1', 'score': 4.99}, {'connected_gene': 'SDR39U1', 'score': 4.9}, {'connected_gene': 'HAUS4', 'score': 4.36}, {'connected_gene': 'ENSG00000274002', 'score': 0.44}]
chr14 GH14I023278 23278028 23278803 0.69 [{'connected_gene': 'PABPN1', 'score': 11.53}, {'connected_gene': 'BCL2L2', 'score': 11.03}, {'connected_gene': 'CMTM5', 'score': 10.47}, {'connected_gene': 'MIR208B', 'score': 10.01}, {'connected_gene': 'ACIN1', 'score': 9.5}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.35}, {'connected_gene': 'ZFHX2', 'score': 9.34}, {'connected_gene': 'HOMEZ', 'score': 5.62}, {'connected_gene': 'PIR53909', 'score': 0.44}, {'connected_gene': 'HMGN2P1', 'score': 0.39}]
chr14 GH14I023277 23277592 23277771 0.2 [{'connected_gene': 'PABPN1', 'score': 11.53}, {'connected_gene': 'BCL2L2', 'score': 11.03}, {'connected_gene': 'CMTM5', 'score': 10.47}, {'connected_gene': 'MIR208B', 'score': 10.0}, {'connected_gene': 'ACIN1', 'score': 9.5}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.35}, {'connected_gene': 'ZFHX2', 'score': 9.34}, {'connected_gene': 'PIR53909', 'score': 0.44}, {'connected_gene': 'HMGN2P1', 'score': 0.39}, {'connected_gene': 'HOMEZ', 'score': 0.34}]
chr14 GH14I023276 23276833 23277387 0.2 [{'connected_gene': 'PABPN1', 'score': 11.53}, {'connected_gene': 'BCL2L2', 'score': 11.03}, {'connected_gene': 'CMTM5', 'score': 10.47}, {'connected_gene': 'MIR208B', 'score': 10.0}, {'connected_gene': 'ACIN1', 'score': 9.5}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.35}, {'connected_gene': 'ZFHX2', 'score': 9.34}, {'connected_gene': 'PIR53909', 'score': 0.44}, {'connected_gene': 'HMGN2P1', 'score': 0.39}, {'connected_gene': 'HOMEZ', 'score': 0.34}]
chr14 GH14I023279 23279527 23281646 1.13 [{'connected_gene': 'PABPN1', 'score': 11.54}, {'connected_gene': 'CMTM5', 'score': 10.47}, {'connected_gene': 'MIR208B', 'score': 10.01}, {'connected_gene': 'ACIN1', 'score': 9.5}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.35}, {'connected_gene': 'ZFHX2', 'score': 9.34}, {'connected_gene': 'HOMEZ', 'score': 7.16}, {'connected_gene': 'PIR53909', 'score': 0.44}, {'connected_gene': 'HMGN2P1', 'score': 0.37}]
chr14 GH14I023284 23284045 23287456 2.26 [{'connected_gene': 'HOMEZ', 'score': 578.17}, {'connected_gene': 'PIR53909', 'score': 550.77}, {'connected_gene': 'ACIN1', 'score': 28.77}, {'connected_gene': 'PRMT5', 'score': 22.23}, {'connected_gene': 'IPO4', 'score': 21.48}, {'connected_gene': 'THTPA', 'score': 19.24}, {'connected_gene': 'TSSK4', 'score': 15.5}, {'connected_gene': 'NGDN', 'score': 14.54}, {'connected_gene': 'PABPN1', 'score': 11.56}, {'connected_gene': 'PRMT5-AS1', 'score': 11.47}, {'connected_gene': 'RNF31', 'score': 11.02}, {'connected_gene': 'CMTM5', 'score': 10.47}, {'connected_gene': 'MIR208B', 'score': 10.01}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.92}, {'connected_gene': 'ZFHX2', 'score': 9.91}, {'connected_gene': 'HMGN2P1', 'score': 0.34}]
chr14 GH14I023328 23328132 23328281 0.8 [{'connected_gene': 'SLC22A17', 'score': 11.35}, {'connected_gene': 'EFS', 'score': 11.29}, {'connected_gene': 'CMTM5', 'score': 11.18}, {'connected_gene': 'PPP1R3E', 'score': 11.18}, {'connected_gene': 'BCL2L2', 'score': 11.18}, {'connected_gene': 'HOMEZ', 'score': 11.18}, {'connected_gene': 'MIR208A', 'score': 10.92}, {'connected_gene': 'IL25', 'score': 10.56}, {'connected_gene': 'MYH6', 'score': 10.48}, {'connected_gene': 'MIR208B', 'score': 10.13}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.0}, {'connected_gene': 'ZFHX2', 'score': 9.99}, {'connected_gene': 'PABPN1', 'score': 0.44}, {'connected_gene': 'GC14P024187', 'score': 0.39}]
chr14 GH14I023453 23453463 23455309 0.91 [{'connected_gene': 'MYH6', 'score': 11.14}, {'connected_gene': 'MIR208B', 'score': 10.81}, {'connected_gene': 'SLC22A17', 'score': 10.72}, {'connected_gene': 'MIR208A', 'score': 10.51}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.4}, {'connected_gene': 'ZFHX2', 'score': 10.33}, {'connected_gene': 'BCL2L2', 'score': 9.94}, {'connected_gene': 'CMTM5', 'score': 9.82}, {'connected_gene': 'IL25', 'score': 9.81}, {'connected_gene': 'PPP1R3E', 'score': 9.75}, {'connected_gene': 'HOMEZ', 'score': 9.75}, {'connected_gene': 'NGDN', 'score': 6.88}, {'connected_gene': 'PABPN1', 'score': 5.0}, {'connected_gene': 'MYH7', 'score': 0.37}]
chr14 GH14I023548 23547460 23549800 1.15 [{'connected_gene': 'NGDN', 'score': 12.99}, {'connected_gene': 'EFS', 'score': 12.43}, {'connected_gene': 'CDH24', 'score': 11.05}, {'connected_gene': 'AP1G2', 'score': 10.62}, {'connected_gene': 'NYNRIN', 'score': 10.01}, {'connected_gene': 'NFATC4', 'score': 10.0}, {'connected_gene': 'DHRS4', 'score': 5.02}, {'connected_gene': 'LOC102724814', 'score': 4.94}, {'connected_gene': 'DHRS4-AS1', 'score': 4.7}, {'connected_gene': 'ZFHX2', 'score': 0.44}, {'connected_gene': 'ENSG00000273618', 'score': 0.37}, {'connected_gene': 'THTPA', 'score': 0.28}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.28}]
chr14 GH14I023544 23544279 23546314 1.41 [{'connected_gene': 'ACIN1', 'score': 32.53}, {'connected_gene': 'KHNYN', 'score': 29.6}, {'connected_gene': 'NGDN', 'score': 27.39}, {'connected_gene': 'RNF31', 'score': 24.66}, {'connected_gene': 'RNA5SP383', 'score': 24.26}, {'connected_gene': 'PRMT5', 'score': 22.28}, {'connected_gene': 'RBM23', 'score': 20.62}, {'connected_gene': 'PRMT5-AS1', 'score': 17.6}, {'connected_gene': 'TSSK4', 'score': 14.36}, {'connected_gene': 'TM9SF1', 'score': 14.36}, {'connected_gene': 'NYNRIN', 'score': 13.33}, {'connected_gene': 'LOC102724814', 'score': 13.29}, {'connected_gene': 'TINF2', 'score': 13.17}, {'connected_gene': 'CIDEB', 'score': 12.88}, {'connected_gene': 'SLC7A8', 'score': 11.86}, {'connected_gene': 'HAUS4', 'score': 11.82}, {'connected_gene': 'C14orf93', 'score': 11.72}, {'connected_gene': 'SDR39U1', 'score': 10.87}, {'connected_gene': 'MMP14', 'score': 10.64}, {'connected_gene': 'PABPN1', 'score': 10.42}, {'connected_gene': 'ENSG00000259321', 'score': 10.09}, {'connected_gene': 'NOP9', 'score': 9.99}, {'connected_gene': 'NFATC4', 'score': 9.96}, {'connected_gene': 'IPO4', 'score': 9.77}, {'connected_gene': 'AP1G2', 'score': 9.57}, {'connected_gene': 'JPH4', 'score': 7.13}, {'connected_gene': 'ZFHX2', 'score': 5.8}, {'connected_gene': 'SLC22A17', 'score': 5.0}, {'connected_gene': 'CMTM5', 'score': 2.48}, {'connected_gene': 'DHRS4L2', 'score': 2.16}, {'connected_gene': 'BCL2L2', 'score': 1.71}, {'connected_gene': 'THTPA', 'score': 1.45}, {'connected_gene': 'ENSG00000273618', 'score': 0.39}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.29}]
chr14 GH14I023478 23478212 23479061 0.78 [{'connected_gene': 'ZFHX2-AS1', 'score': 12.18}, {'connected_gene': 'ZFHX2', 'score': 12.06}, {'connected_gene': 'THTPA', 'score': 11.16}, {'connected_gene': 'AP1G2', 'score': 11.07}, {'connected_gene': 'MYH7', 'score': 10.6}, {'connected_gene': 'MIR208B', 'score': 10.46}, {'connected_gene': 'NGDN', 'score': 7.61}]
chr14 GH14I023484 23484994 23486394 0.31 [{'connected_gene': 'ZFHX2-AS1', 'score': 11.79}, {'connected_gene': 'ZFHX2', 'score': 11.67}, {'connected_gene': 'THTPA', 'score': 11.39}, {'connected_gene': 'NGDN', 'score': 6.18}]
chr14 GH14I023944 23944392 23944541 0.56 [{'connected_gene': 'DHRS4', 'score': 31.69}, {'connected_gene': 'ZFHX2', 'score': 9.51}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.5}, {'connected_gene': 'LINC00596', 'score': 0.44}, {'connected_gene': 'DHRS4-AS1', 'score': 0.26}]
chr14 GH14I023951 23951812 23952061 0.75 [{'connected_gene': 'DHRS4', 'score': 581.22}, {'connected_gene': 'DHRS4-AS1', 'score': 32.84}, {'connected_gene': 'KHNYN', 'score': 21.85}, {'connected_gene': 'ACIN1', 'score': 19.29}, {'connected_gene': 'RNA5SP383', 'score': 15.87}, {'connected_gene': 'TM9SF1', 'score': 14.4}, {'connected_gene': 'RNF31', 'score': 14.08}, {'connected_gene': 'TINF2', 'score': 13.21}, {'connected_gene': 'LOC102724814', 'score': 12.97}, {'connected_gene': 'CIDEB', 'score': 12.91}, {'connected_gene': 'HAUS4', 'score': 11.82}, {'connected_gene': 'C14orf93', 'score': 11.72}, {'connected_gene': 'NGDN', 'score': 11.08}, {'connected_gene': 'ENSG00000259321', 'score': 10.15}, {'connected_gene': 'ZFHX2', 'score': 9.68}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.67}, {'connected_gene': 'LINC00596', 'score': 0.37}]
chr14 GH14I023445 23445509 23448631 0.66 [{'connected_gene': 'MIR208B', 'score': 11.25}, {'connected_gene': 'MYH6', 'score': 11.03}, {'connected_gene': 'SLC22A17', 'score': 10.7}, {'connected_gene': 'MIR208A', 'score': 10.46}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.45}, {'connected_gene': 'ZFHX2', 'score': 10.38}, {'connected_gene': 'CMTM5', 'score': 10.29}, {'connected_gene': 'NGDN', 'score': 6.66}, {'connected_gene': 'MYH7', 'score': 0.39}]
chr14 GH14I023529 23529076 23529801 0.38 [{'connected_gene': 'ENSG00000273618', 'score': 550.77}, {'connected_gene': 'ZFHX2', 'score': 11.42}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.37}, {'connected_gene': 'THTPA', 'score': 0.37}]

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