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
ENST00000372396 [[44115828, 44115923], [44118807, 44118984], [44121261, 44121437], [44125968, 44126083], [44128564, 44128758], [44131366, 44131416], [44132122, 44132226], [44132624, 44132762], [44133442, 44133690], [44134770, 44134970], [44137175, 44137546], [44149354, 44149475], [44154584, 44154766], [44156515, 44156720], [44157166, 44157243], [44157926, 44157982], [44159664, 44159773], [44160379, 44160565], [44163513, 44163684], [44169287, 44169407], [44169690, 44169783], [44169900, 44171186]] [[44118846, 44118984], [44121261, 44121437], [44125968, 44126083], [44128564, 44128758], [44131366, 44131416], [44132122, 44132226], [44132624, 44132762], [44133442, 44133690], [44134770, 44134970], [44137175, 44137546], [44149354, 44149475], [44154584, 44154766], [44156515, 44156720], [44157166, 44157243], [44157926, 44157982], [44159664, 44159773], [44160379, 44160565], [44163513, 44163684], [44169287, 44169407], [44169690, 44169783], [44169900, 44170041]]
ENST00000463151 [[44116206, 44116345], [44118807, 44118984], [44121261, 44121437], [44125968, 44126083], [44128564, 44128758], [44131366, 44131416], [44132122, 44132226], [44132624, 44132692]] None
ENST00000485249 [[44118976, 44118984], [44119333, 44119470], [44121261, 44121437], [44125968, 44126083], [44128564, 44128758], [44131366, 44131416], [44132122, 44132226], [44132624, 44132692]] None
ENST00000472265 [[44131955, 44132226], [44132624, 44132733]] None
ENST00000481296 [[44156260, 44156720], [44157166, 44157243], [44157926, 44157949]] None
NM_014663 [[44115796, 44115923], [44118807, 44118984], [44121261, 44121437], [44125968, 44126083], [44128564, 44128758], [44131366, 44131416], [44132122, 44132226], [44132624, 44132762], [44133442, 44133690], [44134770, 44134970], [44137175, 44137546], [44149354, 44149475], [44154584, 44154766], [44156515, 44156720], [44157166, 44157243], [44157926, 44157982], [44159664, 44159773], [44160379, 44160565], [44163513, 44163684], [44169287, 44169407], [44169690, 44169783], [44169900, 44171189]] [[44118846, 44118984], [44121261, 44121437], [44125968, 44126083], [44128564, 44128758], [44131366, 44131416], [44132122, 44132226], [44132624, 44132762], [44133442, 44133690], [44134770, 44134970], [44137175, 44137546], [44149354, 44149475], [44154584, 44154766], [44156515, 44156720], [44157166, 44157243], [44157926, 44157982], [44159664, 44159773], [44160379, 44160565], [44163513, 44163684], [44169287, 44169407], [44169690, 44169783], [44169900, 44170041]]
Promoter
Chrom Start End Description
chr1 44115773 44115783 CAGE_peak_6_at_KDM4A_5end
chr1 44115789 44115813 CAGE_peak_2_at_KDM4A_5end
chr1 44115814 44115849 CAGE_peak_1_at_KDM4A_5end
chr1 44115853 44115865 CAGE_peak_5_at_KDM4A_5end
chr1 44116137 44116167 CAGE_peak_4_at_KDM4A_5end
chr1 44116169 44116182 CAGE_peak_3_at_KDM4A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I043648 43648089 43652661 2.09 [{'connected_gene': 'KDM4A', 'score': 550.77}, {'connected_gene': 'DMAP1', 'score': 16.79}, {'connected_gene': 'SZT2', 'score': 12.94}, {'connected_gene': 'ZNF691', 'score': 11.61}, {'connected_gene': 'KDM4A-AS1', 'score': 11.36}, {'connected_gene': 'PPIH', 'score': 9.78}, {'connected_gene': 'MED8', 'score': 8.14}, {'connected_gene': 'ATP6V0B', 'score': 6.14}, {'connected_gene': 'ARTN', 'score': 5.75}, {'connected_gene': 'HYI', 'score': 4.64}, {'connected_gene': 'SVBP', 'score': 4.2}, {'connected_gene': 'PIR43352', 'score': 0.28}]
chr1 GH01I043660 43660510 43660699 0.49 [{'connected_gene': 'KDM4A', 'score': 0.39}, {'connected_gene': 'PIR43352', 'score': 0.31}]
chr1 GH01I043671 43671243 43672219 0.46 [{'connected_gene': 'ARTN', 'score': 12.42}, {'connected_gene': 'PIR43352', 'score': 0.37}, {'connected_gene': 'KDM4A', 'score': 0.34}]
chr1 GH01I043685 43685144 43685468 0.24 [{'connected_gene': 'ARTN', 'score': 12.06}, {'connected_gene': 'IPO13', 'score': 3.47}, {'connected_gene': 'SLC6A9', 'score': 2.71}, {'connected_gene': 'ST3GAL3', 'score': 1.66}, {'connected_gene': 'PIR43352', 'score': 0.77}, {'connected_gene': 'KDM4A', 'score': 0.28}]
chr1 GH01I043666 43666188 43667703 0.8 [{'connected_gene': 'ARTN', 'score': 22.72}, {'connected_gene': 'KDM4A-AS1', 'score': 17.03}, {'connected_gene': 'ST3GAL3', 'score': 12.48}, {'connected_gene': 'LOC101929592', 'score': 10.74}, {'connected_gene': 'IPO13', 'score': 10.61}, {'connected_gene': 'LOC101929609', 'score': 10.61}, {'connected_gene': 'PTPRF', 'score': 10.27}, {'connected_gene': 'SZT2', 'score': 9.97}, {'connected_gene': 'MED8', 'score': 4.59}, {'connected_gene': 'KDM4A', 'score': 0.37}, {'connected_gene': 'PIR43352', 'score': 0.34}]
chr1 GH01I042949 42949002 42964628 2.79 [{'connected_gene': 'SLC2A1', 'score': 567.66}, {'connected_gene': 'SLC2A1-AS1', 'score': 42.16}, {'connected_gene': 'SZT2', 'score': 20.73}, {'connected_gene': 'ARTN', 'score': 18.86}, {'connected_gene': 'PPIH', 'score': 13.28}, {'connected_gene': 'P3H1', 'score': 12.74}, {'connected_gene': 'MED8', 'score': 12.58}, {'connected_gene': 'RNU6-880P', 'score': 12.09}, {'connected_gene': 'ERMAP', 'score': 12.08}, {'connected_gene': 'LOC101929609', 'score': 12.05}, {'connected_gene': 'KDM4A-AS1', 'score': 11.14}, {'connected_gene': 'KDM4A', 'score': 10.02}, {'connected_gene': 'CLDN19', 'score': 3.67}, {'connected_gene': 'SVBP', 'score': 1.79}, {'connected_gene': 'ENSG00000284138', 'score': 0.77}, {'connected_gene': 'ENSG00000283973', 'score': 0.44}]
chr1 GH01I043522 43522358 43525710 1.7 [{'connected_gene': 'PTPRF', 'score': 552.21}, {'connected_gene': 'SZT2', 'score': 45.32}, {'connected_gene': 'P3H1', 'score': 33.21}, {'connected_gene': 'MED8', 'score': 29.3}, {'connected_gene': 'KDM4A', 'score': 19.89}, {'connected_gene': 'HYI', 'score': 14.6}, {'connected_gene': 'PPIH', 'score': 13.25}, {'connected_gene': 'ZNF691', 'score': 11.68}, {'connected_gene': 'KDM4A-AS1', 'score': 11.21}, {'connected_gene': 'DMAP1', 'score': 10.34}, {'connected_gene': 'GC01M043545', 'score': 0.34}]
chr1 GH01I044483 44483749 44486921 1.68 [{'connected_gene': 'DMAP1', 'score': 18.45}, {'connected_gene': 'RNF220', 'score': 15.43}, {'connected_gene': 'ZSWIM5', 'score': 14.36}, {'connected_gene': 'LOC101929609', 'score': 12.05}, {'connected_gene': 'RNU6-369P', 'score': 10.94}, {'connected_gene': 'ARTN', 'score': 10.87}, {'connected_gene': 'ERI3', 'score': 10.1}, {'connected_gene': 'KDM4A', 'score': 10.02}, {'connected_gene': 'MUTYH', 'score': 9.91}, {'connected_gene': 'PLK3', 'score': 5.57}, {'connected_gene': 'ATP6V0B', 'score': 4.18}, {'connected_gene': 'BTBD19', 'score': 3.61}, {'connected_gene': 'SLC6A9', 'score': 3.19}, {'connected_gene': 'TCTEX1D4', 'score': 2.55}, {'connected_gene': 'MIR5584', 'score': 0.21}]
chr1 GH01I044212 44212324 44214640 2.16 [{'connected_gene': 'DMAP1', 'score': 600.11}, {'connected_gene': 'SZT2', 'score': 141.54}, {'connected_gene': 'HYI', 'score': 42.78}, {'connected_gene': 'KDM4A-AS1', 'score': 40.77}, {'connected_gene': 'ARTN', 'score': 38.15}, {'connected_gene': 'LOC101929609', 'score': 30.01}, {'connected_gene': 'RPS8', 'score': 30.0}, {'connected_gene': 'HECTD3', 'score': 29.15}, {'connected_gene': 'PTCH2', 'score': 22.93}, {'connected_gene': 'KDM4A', 'score': 22.71}, {'connected_gene': 'MED8', 'score': 21.01}, {'connected_gene': 'CCDC24', 'score': 19.38}, {'connected_gene': 'KIF2C', 'score': 11.36}, {'connected_gene': 'RNF220', 'score': 10.23}, {'connected_gene': 'LOC105378687', 'score': 10.21}, {'connected_gene': 'ERI3', 'score': 9.66}, {'connected_gene': 'HYI-AS1', 'score': 9.65}, {'connected_gene': 'GC01P044238', 'score': 0.34}]
chr1 GH01I042680 42680504 42684556 2.08 [{'connected_gene': 'YBX1', 'score': 550.77}, {'connected_gene': 'SZT2', 'score': 59.39}, {'connected_gene': 'PPIH', 'score': 38.8}, {'connected_gene': 'P3H1', 'score': 25.2}, {'connected_gene': 'SVBP', 'score': 14.71}, {'connected_gene': 'MED8', 'score': 12.56}, {'connected_gene': 'ZNF691', 'score': 11.75}, {'connected_gene': 'FOXJ3', 'score': 11.56}, {'connected_gene': 'KDM4A', 'score': 11.5}, {'connected_gene': 'HYI', 'score': 10.5}, {'connected_gene': 'CLDN19', 'score': 4.12}, {'connected_gene': 'ENSG00000234917', 'score': 0.77}, {'connected_gene': 'GC01P042719', 'score': 0.28}]
chr1 GH01I043888 43888685 43888799 0.22 [{'connected_gene': 'SZT2', 'score': 2.89}, {'connected_gene': 'ST3GAL3', 'score': 2.53}, {'connected_gene': 'KDM4A', 'score': 1.83}, {'connected_gene': 'IPO13', 'score': 1.43}, {'connected_gene': 'GC01M043857', 'score': 0.31}, {'connected_gene': 'ARTN', 'score': 0.26}]
chr1 GH01I042923 42922802 42926703 1.5 [{'connected_gene': 'FOXJ3', 'score': 30.83}, {'connected_gene': 'HYI', 'score': 30.14}, {'connected_gene': 'SZT2', 'score': 23.22}, {'connected_gene': 'P3H1', 'score': 12.31}, {'connected_gene': 'RNU6-880P', 'score': 11.48}, {'connected_gene': 'CCDC30', 'score': 11.13}, {'connected_gene': 'ZNF691', 'score': 10.55}, {'connected_gene': 'ENSG00000228192', 'score': 10.55}, {'connected_gene': 'FAM183A', 'score': 10.02}, {'connected_gene': 'KDM4A', 'score': 9.98}, {'connected_gene': 'LOC105378683', 'score': 9.8}, {'connected_gene': 'HYI-AS1', 'score': 9.65}, {'connected_gene': 'ATP6V1E1P1', 'score': 0.34}, {'connected_gene': 'ENSG00000284138', 'score': 0.31}, {'connected_gene': 'SLC2A1', 'score': 0.29}]
chr1 GH01I042824 42824340 42826346 1.69 [{'connected_gene': 'ERMAP', 'score': 550.44}, {'connected_gene': 'ZNF691', 'score': 11.13}, {'connected_gene': 'ENSG00000228192', 'score': 11.13}, {'connected_gene': 'P3H1', 'score': 10.1}, {'connected_gene': 'C1orf50', 'score': 10.1}, {'connected_gene': 'KDM4A', 'score': 10.02}, {'connected_gene': 'SVBP', 'score': 9.52}, {'connected_gene': 'SZT2', 'score': 8.94}]
chr1 GH01I044047 44047212 44050740 1.38 [{'connected_gene': 'MED8', 'score': 14.14}, {'connected_gene': 'IPO13', 'score': 10.5}, {'connected_gene': 'LOC101929609', 'score': 10.5}, {'connected_gene': 'KDM4A', 'score': 10.49}, {'connected_gene': 'SZT2', 'score': 10.33}, {'connected_gene': 'RPS8', 'score': 10.31}, {'connected_gene': 'ARTN', 'score': 10.23}, {'connected_gene': 'HECTD3', 'score': 9.67}, {'connected_gene': 'ENSG00000230615', 'score': 7.91}, {'connected_gene': 'B4GALT2', 'score': 4.76}, {'connected_gene': 'KLF17', 'score': 0.44}, {'connected_gene': 'ENSG00000227163', 'score': 0.28}]
chr1 GH01I043404 43404870 43405948 0.91 [{'connected_gene': 'MED8', 'score': 49.82}, {'connected_gene': 'SZT2', 'score': 31.81}, {'connected_gene': 'PPIH', 'score': 22.47}, {'connected_gene': 'HYI', 'score': 16.23}, {'connected_gene': 'P3H1', 'score': 12.69}, {'connected_gene': 'ENSG00000229431', 'score': 11.52}, {'connected_gene': 'ELOVL1', 'score': 11.27}, {'connected_gene': 'CDC20', 'score': 11.24}, {'connected_gene': 'LOC105378687', 'score': 11.24}, {'connected_gene': 'KDM4A-AS1', 'score': 11.18}, {'connected_gene': 'SZT2-AS1', 'score': 11.05}, {'connected_gene': 'HYI-AS1', 'score': 11.03}, {'connected_gene': 'DMAP1', 'score': 10.34}, {'connected_gene': 'KDM4A', 'score': 10.07}, {'connected_gene': 'EBNA1BP2', 'score': 9.96}, {'connected_gene': 'CFAP57', 'score': 9.91}, {'connected_gene': 'GC01M043435', 'score': 0.29}]
chr1 GH01I043652 43652751 43654114 0.88 [{'connected_gene': 'MED8', 'score': 5.65}, {'connected_gene': 'KDM4A-AS1', 'score': 5.23}, {'connected_gene': 'KDM4A', 'score': 0.77}, {'connected_gene': 'PIR43352', 'score': 0.29}]
chr1 GH01I042657 42657175 42659553 2.09 [{'connected_gene': 'PPIH', 'score': 600.51}, {'connected_gene': 'SZT2', 'score': 44.57}, {'connected_gene': 'P3H1', 'score': 33.58}, {'connected_gene': 'KDM4A', 'score': 20.22}, {'connected_gene': 'MED8', 'score': 14.13}, {'connected_gene': 'SVBP', 'score': 13.74}, {'connected_gene': 'ZNF691', 'score': 11.74}, {'connected_gene': 'HYI', 'score': 10.5}, {'connected_gene': 'CCDC30', 'score': 7.86}, {'connected_gene': 'ENSG00000234917', 'score': 0.34}]
chr1 GH01I043799 43799517 43801406 0.93 [{'connected_gene': 'LOC101929592', 'score': 17.36}, {'connected_gene': 'ST3GAL3', 'score': 11.78}, {'connected_gene': 'KDM4A-AS1', 'score': 10.59}, {'connected_gene': 'ATP6V0B', 'score': 10.16}, {'connected_gene': 'ARTN', 'score': 7.2}, {'connected_gene': 'KDM4A', 'score': 6.53}, {'connected_gene': 'C1orf228', 'score': 4.51}, {'connected_gene': 'CDC20', 'score': 3.73}, {'connected_gene': 'MED8', 'score': 1.56}, {'connected_gene': 'SZT2', 'score': 1.48}, {'connected_gene': 'GC01P043830', 'score': 0.31}, {'connected_gene': 'ENSG00000233674', 'score': 0.22}]
chr1 GH01I043659 43659350 43660500 0.46 [{'connected_gene': 'LOC101929592', 'score': 9.91}, {'connected_gene': 'MED8', 'score': 7.5}, {'connected_gene': 'ATP6V0B', 'score': 5.99}, {'connected_gene': 'KDM4A', 'score': 0.44}, {'connected_gene': 'PIR43352', 'score': 0.31}]
chr1 GH01I043705 43705692 43709497 2.06 [{'connected_gene': 'KDM4A-AS1', 'score': 562.05}, {'connected_gene': 'ST3GAL3', 'score': 550.77}, {'connected_gene': 'SZT2', 'score': 63.34}, {'connected_gene': 'DMAP1', 'score': 31.48}, {'connected_gene': 'P3H1', 'score': 30.03}, {'connected_gene': 'KDM4A', 'score': 19.34}, {'connected_gene': 'HYI', 'score': 18.92}, {'connected_gene': 'MED8', 'score': 18.15}, {'connected_gene': 'ARTN', 'score': 17.61}, {'connected_gene': 'ZNF691', 'score': 12.15}, {'connected_gene': 'SZT2-AS1', 'score': 10.33}, {'connected_gene': 'LOC101929592', 'score': 8.56}, {'connected_gene': 'ATP6V0B', 'score': 5.98}, {'connected_gene': 'GC01M043702', 'score': 0.34}]
chr1 GH01I043687 43687189 43689852 0.52 [{'connected_gene': 'PIR43352', 'score': 550.77}, {'connected_gene': 'PIR60655', 'score': 550.77}, {'connected_gene': 'ARTN', 'score': 12.14}, {'connected_gene': 'LOC101929592', 'score': 6.66}, {'connected_gene': 'MED8', 'score': 5.83}, {'connected_gene': 'ATP6V0B', 'score': 5.82}, {'connected_gene': 'KDM4A', 'score': 0.28}]
chr1 GH01I044290 44290059 44291586 1.16 [{'connected_gene': 'GC01P044290', 'score': 550.77}, {'connected_gene': 'SZT2', 'score': 20.76}, {'connected_gene': 'KDM4A', 'score': 19.8}, {'connected_gene': 'RPS8', 'score': 12.95}, {'connected_gene': 'HECTD3', 'score': 12.04}, {'connected_gene': 'HYI', 'score': 10.5}, {'connected_gene': 'DMAP1', 'score': 10.49}, {'connected_gene': 'ERI3', 'score': 10.16}, {'connected_gene': 'GC01P044305', 'score': 0.39}]
chr1 GH01I044628 44628174 44634784 1.78 [{'connected_gene': 'PIR47647', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 32.63}, {'connected_gene': 'DMAP1', 'score': 30.7}, {'connected_gene': 'KDM4A', 'score': 23.28}, {'connected_gene': 'C1orf228', 'score': 18.2}, {'connected_gene': 'HECTD3', 'score': 17.93}, {'connected_gene': 'RPS8', 'score': 12.76}, {'connected_gene': 'MUTYH', 'score': 12.38}, {'connected_gene': 'CCDC17', 'score': 11.51}, {'connected_gene': 'ARTN', 'score': 10.78}, {'connected_gene': 'RNU5F-1', 'score': 10.63}, {'connected_gene': 'ERI3', 'score': 10.25}, {'connected_gene': 'NASP', 'score': 9.96}, {'connected_gene': 'KDM4A-AS1', 'score': 9.88}, {'connected_gene': 'RNF220', 'score': 9.57}, {'connected_gene': 'GC01P044661', 'score': 0.29}]