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
ENST00000372508 [[43312279, 43312328], [43316620, 43318148]] [[43316629, 43317484]]
ENST00000372507 [[43312296, 43312328], [43314961, 43315084], [43316620, 43318148]] [[43316629, 43317484]]
ENST00000372506 [[43312298, 43312328], [43314961, 43315084], [43315235, 43315413], [43316620, 43318148]] [[43316629, 43317484]]
ENST00000397044 [[43312306, 43312328], [43314961, 43315413], [43316620, 43317598]] [[43315329, 43315413], [43316620, 43317484]]
ENST00000372504 [[43312307, 43312328], [43314961, 43315084], [43315235, 43315413], [43316329, 43316414], [43316620, 43318148]] [[43316357, 43316414], [43316620, 43317484]]
ENST00000397034 [[43314961, 43315084], [43315235, 43315413], [43316329, 43316414], [43316593, 43316935]] [[43316357, 43316414], [43316593, 43316935]]
ENST00000372503 [[43315225, 43315413], [43316620, 43317425]] [[43315329, 43315413], [43316620, 43317425]]
ENST00000372502 [[43316357, 43316414], [43316620, 43318144]] [[43316357, 43316414], [43316620, 43317484]]
NM_015911 [[43312243, 43312328], [43316620, 43318148]] [[43316629, 43317484]]
NM_001242739 [[43312243, 43312328], [43314961, 43315084], [43315235, 43315413], [43316620, 43318148]] [[43315329, 43315413], [43316620, 43317484]]
Promoter
Chrom Start End Description
chr1 43312258 43312310 CAGE_peak_1_at_ZNF691_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 GH01I042928 42928177 42928603 0.66 [{'connected_gene': 'SLC2A1', 'score': 12.52}, {'connected_gene': 'SLC2A1-AS1', 'score': 12.52}, {'connected_gene': 'RNU6-880P', 'score': 11.49}, {'connected_gene': 'ZNF691', 'score': 10.15}, {'connected_gene': 'ENSG00000228192', 'score': 10.15}, {'connected_gene': 'ENSG00000284138', 'score': 0.34}, {'connected_gene': 'ATP6V1E1P1', 'score': 0.31}]
chr1 GH01I042764 42764465 42768436 2.06 [{'connected_gene': 'P3H1', 'score': 557.72}, {'connected_gene': 'C1orf50', 'score': 550.77}, {'connected_gene': 'ENSG00000283580', 'score': 550.77}, {'connected_gene': 'SVBP', 'score': 35.64}, {'connected_gene': 'PPIH', 'score': 29.45}, {'connected_gene': 'SZT2', 'score': 13.26}, {'connected_gene': 'KDM4A-AS1', 'score': 12.44}, {'connected_gene': 'MED8', 'score': 10.21}, {'connected_gene': 'ZNF691', 'score': 6.02}, {'connected_gene': 'GC01M042747', 'score': 0.37}, {'connected_gene': 'GC01M042733', 'score': 0.28}]
chr1 GH01I042034 42034670 42036698 1.43 [{'connected_gene': 'HIVEP3', 'score': 556.2}, {'connected_gene': 'PIR59603', 'score': 550.77}, {'connected_gene': 'ZNF691', 'score': 12.15}, {'connected_gene': 'P3H1', 'score': 10.66}, {'connected_gene': 'PPIH', 'score': 9.93}, {'connected_gene': 'LOC105378683', 'score': 5.73}, {'connected_gene': 'PIR53563', 'score': 0.11}]
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 GH01I042177 42177396 42177832 1.1 [{'connected_gene': 'ZNF691', 'score': 19.67}, {'connected_gene': 'P3H1', 'score': 19.61}, {'connected_gene': 'FOXJ3', 'score': 19.45}, {'connected_gene': 'PPIH', 'score': 10.18}, {'connected_gene': 'GC01P042164', 'score': 0.39}, {'connected_gene': 'GC01M042279', 'score': 0.15}, {'connected_gene': 'PIR49391', 'score': 0.15}]
chr1 GH01I042214 42214402 42215002 1.09 [{'connected_gene': 'ZNF691', 'score': 10.7}, {'connected_gene': 'P3H1', 'score': 10.33}, {'connected_gene': 'PPIH', 'score': 10.18}, {'connected_gene': 'FOXJ3', 'score': 6.47}, {'connected_gene': 'GC01P042164', 'score': 0.25}, {'connected_gene': 'GC01M042279', 'score': 0.21}, {'connected_gene': 'PIR49391', 'score': 0.21}]
chr1 GH01I042913 42913470 42913800 0.92 [{'connected_gene': 'ZNF691', 'score': 10.24}, {'connected_gene': 'ENSG00000228192', 'score': 10.24}, {'connected_gene': 'ATP6V1E1P1', 'score': 0.39}, {'connected_gene': 'ENSG00000284138', 'score': 0.28}]
chr1 GH01I042845 42845768 42848146 2.05 [{'connected_gene': 'ZNF691', 'score': 556.71}, {'connected_gene': 'ENSG00000228192', 'score': 550.77}, {'connected_gene': 'SZT2', 'score': 24.51}, {'connected_gene': 'FOXJ3', 'score': 22.87}, {'connected_gene': 'YBX1', 'score': 16.52}, {'connected_gene': 'CCDC30', 'score': 10.08}, {'connected_gene': 'PPIH', 'score': 9.84}, {'connected_gene': 'ERMAP', 'score': 9.78}, {'connected_gene': 'PIR46792', 'score': 0.39}]
chr1 GH01I042848 42848377 42849111 0.43 [{'connected_gene': 'ZNF691', 'score': 0.77}, {'connected_gene': 'PIR46792', 'score': 0.44}]
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 GH01I043137 43137288 43138365 0.2 [{'connected_gene': 'FAM183A', 'score': 25.92}, {'connected_gene': 'CFAP57', 'score': 10.99}, {'connected_gene': 'EBNA1BP2', 'score': 10.82}, {'connected_gene': 'ZNF691', 'score': 8.85}, {'connected_gene': 'ENSG00000228192', 'score': 8.85}, {'connected_gene': 'ENSG00000277513', 'score': 0.29}]
chr1 GH01I043072 43072628 43074001 1.11 [{'connected_gene': 'FAM183A', 'score': 16.71}, {'connected_gene': 'RNU6-880P', 'score': 10.66}, {'connected_gene': 'CFAP57', 'score': 10.22}, {'connected_gene': 'ZNF691', 'score': 10.19}, {'connected_gene': 'ENSG00000228192', 'score': 10.19}, {'connected_gene': 'EBNA1BP2', 'score': 10.15}, {'connected_gene': 'RNU6-536P', 'score': 10.0}, {'connected_gene': 'ENSG00000236180', 'score': 10.0}, {'connected_gene': 'SZT2', 'score': 9.72}, {'connected_gene': 'GC01P043068', 'score': 0.44}, {'connected_gene': 'ENSG00000277513', 'score': 0.29}]
chr1 GH01I042818 42818607 42819588 0.87 [{'connected_gene': 'SVBP', 'score': 557.79}, {'connected_gene': 'ERMAP', 'score': 550.77}, {'connected_gene': 'ZNF691', 'score': 11.45}, {'connected_gene': 'ENSG00000228192', 'score': 11.45}, {'connected_gene': 'P3H1', 'score': 7.66}]
chr1 GH01I042815 42815791 42818326 1.99 [{'connected_gene': 'SVBP', 'score': 588.77}, {'connected_gene': 'ERMAP', 'score': 550.77}, {'connected_gene': 'PPIH', 'score': 16.34}, {'connected_gene': 'ZNF691', 'score': 11.45}, {'connected_gene': 'ENSG00000228192', 'score': 11.45}, {'connected_gene': 'P3H1', 'score': 7.67}, {'connected_gene': 'SLC2A1-AS1', 'score': 4.47}, {'connected_gene': 'GC01M042733', 'score': 0.39}, {'connected_gene': 'TMEM269', 'score': 0.29}]
chr1 GH01I042823 42823150 42823299 1.04 [{'connected_gene': 'SZT2', 'score': 19.1}, {'connected_gene': 'ZNF691', 'score': 11.48}, {'connected_gene': 'ENSG00000228192', 'score': 11.48}, {'connected_gene': 'PPIH', 'score': 10.03}, {'connected_gene': 'SVBP', 'score': 0.44}, {'connected_gene': 'ERMAP', 'score': 0.44}]
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 GH01I043464 43464135 43466473 0.75 [{'connected_gene': 'MED8', 'score': 32.09}, {'connected_gene': 'SZT2', 'score': 26.48}, {'connected_gene': 'DMAP1', 'score': 16.06}, {'connected_gene': 'ARTN', 'score': 12.88}, {'connected_gene': 'ZNF691', 'score': 12.16}, {'connected_gene': 'KDM4A-AS1', 'score': 11.35}, {'connected_gene': 'HYI', 'score': 11.22}, {'connected_gene': 'P3H1', 'score': 10.66}, {'connected_gene': 'ST3GAL3', 'score': 10.13}, {'connected_gene': 'PPIH', 'score': 9.94}, {'connected_gene': 'GC01M043427', 'score': 0.39}]
chr1 GH01I042922 42922593 42922698 0.65 [{'connected_gene': 'RNU6-880P', 'score': 10.98}, {'connected_gene': 'ZNF691', 'score': 10.55}, {'connected_gene': 'ENSG00000228192', 'score': 10.55}, {'connected_gene': 'FAM183A', 'score': 10.02}, {'connected_gene': 'ATP6V1E1P1', 'score': 0.37}, {'connected_gene': 'ENSG00000284138', 'score': 0.31}]
chr1 GH01I043071 43071406 43072038 0.2 [{'connected_gene': 'RNU6-880P', 'score': 10.73}, {'connected_gene': 'ZNF691', 'score': 10.19}, {'connected_gene': 'ENSG00000228192', 'score': 10.19}, {'connected_gene': 'FAM183A', 'score': 9.7}, {'connected_gene': 'GC01P043068', 'score': 0.77}, {'connected_gene': 'ENSG00000277513', '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 GH01I043056 43056347 43060214 1.26 [{'connected_gene': 'PPIH', 'score': 20.68}, {'connected_gene': 'SZT2', 'score': 11.93}, {'connected_gene': 'RNU6-880P', 'score': 11.84}, {'connected_gene': 'P3H1', 'score': 11.04}, {'connected_gene': 'ARTN', 'score': 10.11}, {'connected_gene': 'LOC105378683', 'score': 9.91}, {'connected_gene': 'ZNF691', 'score': 9.47}, {'connected_gene': 'ENSG00000228192', 'score': 9.47}, {'connected_gene': 'ELOVL1', 'score': 5.54}, {'connected_gene': 'ENSG00000229431', 'score': 5.26}, {'connected_gene': 'CFAP57', 'score': 4.47}, {'connected_gene': 'SLC2A1-AS1', 'score': 4.13}, {'connected_gene': 'GC01P043056', 'score': 0.77}, {'connected_gene': 'GC01P043068', 'score': 0.44}]
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 GH01I042806 42806881 42808076 0.38 [{'connected_gene': 'GC01M042733', 'score': 550.77}, {'connected_gene': 'P3H1', 'score': 11.33}, {'connected_gene': 'ZNF691', 'score': 10.47}, {'connected_gene': 'ENSG00000228192', 'score': 10.47}, {'connected_gene': 'YBX1', 'score': 9.56}, {'connected_gene': 'SVBP', 'score': 5.16}, {'connected_gene': 'ERMAP', 'score': 0.44}, {'connected_gene': 'TMEM269', 'score': 0.34}]
chr1 GH01I042164 42164323 42166706 1.65 [{'connected_gene': 'GC01P042164', 'score': 550.77}, {'connected_gene': 'GUCA2A', 'score': 550.77}, {'connected_gene': 'PPIH', 'score': 28.01}, {'connected_gene': 'FOXJ3', 'score': 24.84}, {'connected_gene': 'P3H1', 'score': 22.18}, {'connected_gene': 'CCDC30', 'score': 11.94}, {'connected_gene': 'ZNF691', 'score': 11.62}, {'connected_gene': 'SCMH1', 'score': 10.79}, {'connected_gene': 'ENSG00000227527', 'score': 10.12}, {'connected_gene': 'GC01M042279', 'score': 0.14}, {'connected_gene': 'PIR49391', 'score': 0.14}]

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