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
ENST00000366981 [[212738675, 212738825], [212788359, 212788603], [212791468, 212791576], [212792699, 212792877]] [[212788363, 212788603], [212791468, 212791576], [212792699, 212792877]]
ENST00000366987 [[212738696, 212738825], [212788359, 212788603], [212791468, 212791576], [212792699, 212794114]] [[212788363, 212788603], [212791468, 212791576], [212792699, 212792897]]
ENST00000465155 [[212782011, 212782272], [212788359, 212788603], [212791468, 212792589]] None
ENST00000341491 [[212782011, 212782272], [212788359, 212788603], [212791468, 212791576], [212792699, 212794119]] [[212788363, 212788603], [212791468, 212791576], [212792699, 212792897]]
ENST00000366985 [[212782256, 212782272], [212788359, 212788387], [212788493, 212788603], [212791468, 212791576], [212792699, 212792953]] [[212788534, 212788603], [212791468, 212791576], [212792699, 212792897]]
ENST00000492118 [[212786777, 212787474], [212792699, 212794119]] None
ENST00000336937 [[212788363, 212788402], [212788489, 212788603], [212791468, 212791576], [212792387, 212792608]] [[212788363, 212788402], [212788489, 212788603], [212791468, 212791576], [212792387, 212792447]]
ENST00000464547 [[212788363, 212788603], [212791468, 212791576], [212792387, 212792608], [212792699, 212792897]] [[212788363, 212788603], [212791468, 212791576], [212792387, 212792447]]
ENST00000366983 [[212788363, 212788603], [212791468, 212791576], [212792387, 212792897]] [[212788363, 212788603], [212791468, 212791576], [212792387, 212792447]]
NM_001030287 [[212738675, 212738825], [212788359, 212788603], [212791468, 212791576], [212792699, 212794119]] [[212788363, 212788603], [212791468, 212791576], [212792699, 212792897]]
NM_001206488 [[212781969, 212782272], [212788382, 212788603], [212791468, 212791576], [212792699, 212794119]] [[212788534, 212788603], [212791468, 212791576], [212792699, 212792897]]
NM_001674 [[212781969, 212782272], [212788359, 212788603], [212791468, 212791576], [212792699, 212794119]] [[212788363, 212788603], [212791468, 212791576], [212792699, 212792897]]
NM_001040619 [[212781969, 212782272], [212788359, 212788603], [212791468, 212791576], [212792387, 212794119]] [[212788363, 212788603], [212791468, 212791576], [212792387, 212792447]]
NM_001206484 [[212781969, 212782272], [212784181, 212784189], [212788407, 212788603], [212791468, 212791576], [212792699, 212794119]] [[212788534, 212788603], [212791468, 212791576], [212792699, 212792897]]
NM_001206486 [[212788359, 212788402], [212788489, 212788603], [212791468, 212791576], [212792387, 212794119]] [[212788363, 212788402], [212788489, 212788603], [212791468, 212791576], [212792387, 212792447]]
Promoter
Chrom Start End Description
chr1 212738742 212738755 CAGE_peak_2_at_ATF3_5end
chr1 212782094 212782109 CAGE_peak_1_at_ATF3_5end
chr1 212787899 212787903 CAGE_peak_4_at_ATF3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I212594 212594814 212598098 1.76 [{'connected_gene': 'ANGEL2', 'score': 24.66}, {'connected_gene': 'ATF3', 'score': 19.14}, {'connected_gene': 'FAM71A', 'score': 11.59}, {'connected_gene': 'ENSG00000235862', 'score': 11.57}, {'connected_gene': 'BATF3', 'score': 10.38}, {'connected_gene': 'FLVCR1', 'score': 10.24}, {'connected_gene': 'TMEM206', 'score': 9.75}, {'connected_gene': 'PPP2R5A', 'score': 1.36}, {'connected_gene': 'GC01M212615', 'score': 0.37}]
chr1 GH01I212681 212681131 212681531 0.6 [{'connected_gene': 'BATF3', 'score': 4.75}, {'connected_gene': 'ATF3', 'score': 2.66}, {'connected_gene': 'RPS6KC1', 'score': 1.35}, {'connected_gene': 'GC01P212693', 'score': 0.39}, {'connected_gene': 'LOC102723761', 'score': 0.37}]
chr1 GH01I212670 212670899 212672200 1.23 [{'connected_gene': 'BATF3', 'score': 17.99}, {'connected_gene': 'ATF3', 'score': 2.51}, {'connected_gene': 'RPS6KC1', 'score': 1.28}, {'connected_gene': 'LOC102723761', 'score': 0.44}, {'connected_gene': 'GC01P212693', 'score': 0.34}]
chr1 GH01I212549 212549910 212550174 0.39 [{'connected_gene': 'BATF3', 'score': 11.38}, {'connected_gene': 'ATF3', 'score': 1.54}, {'connected_gene': 'LINC01740', 'score': 0.77}, {'connected_gene': 'GC01M212558', 'score': 0.44}]
chr1 GH01I212580 212580201 212580600 0.49 [{'connected_gene': 'BATF3', 'score': 10.68}, {'connected_gene': 'ATF3', 'score': 0.37}, {'connected_gene': 'GC01M212615', 'score': 0.28}]
chr1 GH01I212401 212401905 212403575 0.82 [{'connected_gene': 'PPP2R5A', 'score': 17.81}, {'connected_gene': 'ATF3', 'score': 11.78}, {'connected_gene': 'TMEM206', 'score': 6.74}, {'connected_gene': 'LOC101929541', 'score': 6.43}, {'connected_gene': 'LINC01740', 'score': 5.43}, {'connected_gene': 'PIR60492', 'score': 0.28}]
chr1 GH01I212457 212457879 212458028 0.85 [{'connected_gene': 'TMEM206', 'score': 11.5}, {'connected_gene': 'ATF3', 'score': 10.83}, {'connected_gene': 'ENSG00000212187', 'score': 10.35}, {'connected_gene': 'BATF3', 'score': 9.98}, {'connected_gene': 'LOC105372907', 'score': 0.39}, {'connected_gene': 'NENF', 'score': 0.31}]
chr1 GH01I212455 212455479 212456865 1.2 [{'connected_gene': 'TMEM206', 'score': 23.1}, {'connected_gene': 'ATF3', 'score': 10.83}, {'connected_gene': 'ENSG00000212187', 'score': 10.35}, {'connected_gene': 'BATF3', 'score': 9.98}, {'connected_gene': 'LOC105372907', 'score': 0.37}, {'connected_gene': 'NENF', 'score': 0.34}]
chr1 GH01I212458 212458709 212461591 0.63 [{'connected_gene': 'TMEM206', 'score': 26.12}, {'connected_gene': 'ATF3', 'score': 10.83}, {'connected_gene': 'ENSG00000212187', 'score': 10.35}, {'connected_gene': 'BATF3', 'score': 10.35}, {'connected_gene': 'LOC101929541', 'score': 7.31}, {'connected_gene': 'NENF', 'score': 6.1}, {'connected_gene': 'LOC105372907', 'score': 0.39}]
chr1 GH01I212464 212464045 212465703 0.43 [{'connected_gene': 'TMEM206', 'score': 24.29}, {'connected_gene': 'LOC105372907', 'score': 11.23}, {'connected_gene': 'ATF3', 'score': 11.04}, {'connected_gene': 'BATF3', 'score': 10.79}, {'connected_gene': 'PPP2R5A', 'score': 5.9}, {'connected_gene': 'NENF', 'score': 0.29}]
chr1 GH01I212452 212452416 212453897 0.72 [{'connected_gene': 'TMEM206', 'score': 20.98}, {'connected_gene': 'LOC105372907', 'score': 11.73}, {'connected_gene': 'ATF3', 'score': 10.82}, {'connected_gene': 'ENSG00000212187', 'score': 10.35}, {'connected_gene': 'BATF3', 'score': 9.98}, {'connected_gene': 'NENF', 'score': 0.34}]
chr1 GH01I212605 212605186 212610401 2.33 [{'connected_gene': 'ATF3', 'score': 562.88}, {'connected_gene': 'ANGEL2', 'score': 20.72}, {'connected_gene': 'FLVCR1', 'score': 11.25}, {'connected_gene': 'BATF3', 'score': 10.93}, {'connected_gene': 'GC01M212615', 'score': 0.44}]
chr1 GH01I212565 212565996 212568199 1.41 [{'connected_gene': 'ATF3', 'score': 550.77}, {'connected_gene': 'ANGEL2', 'score': 16.65}, {'connected_gene': 'FLVCR1', 'score': 10.23}, {'connected_gene': 'GC01M212615', 'score': 0.25}]
chr1 GH01I212539 212539886 212540517 0.43 [{'connected_gene': 'ATF3', 'score': 12.46}, {'connected_gene': 'BATF3', 'score': 11.42}, {'connected_gene': 'TMEM206', 'score': 10.5}, {'connected_gene': 'LINC01740', 'score': 0.44}, {'connected_gene': 'LOC105372908', 'score': 0.31}]
chr1 GH01I212593 212593839 212593988 0.54 [{'connected_gene': 'ATF3', 'score': 12.09}, {'connected_gene': 'BATF3', 'score': 10.37}, {'connected_gene': 'TMEM206', 'score': 9.75}, {'connected_gene': 'GC01M212615', 'score': 0.34}]
chr1 GH01I212621 212621638 212622653 0.59 [{'connected_gene': 'ATF3', 'score': 11.27}, {'connected_gene': 'BATF3', 'score': 10.93}, {'connected_gene': 'FAM71A', 'score': 0.77}, {'connected_gene': 'GC01M212615', 'score': 0.44}]
chr1 GH01I212482 212481521 212481677 0.47 [{'connected_gene': 'ATF3', 'score': 21.47}, {'connected_gene': 'BATF3', 'score': 10.72}, {'connected_gene': 'LOC105372907', 'score': 4.75}, {'connected_gene': 'LOC105372908', 'score': 0.29}]
chr1 GH01I212480 212480455 212481005 0.38 [{'connected_gene': 'ATF3', 'score': 11.22}, {'connected_gene': 'BATF3', 'score': 10.72}, {'connected_gene': 'LOC105372907', 'score': 0.44}, {'connected_gene': 'LOC105372908', 'score': 0.29}]
chr1 GH01I212531 212531404 212533951 1.28 [{'connected_gene': 'ATF3', 'score': 34.55}, {'connected_gene': 'BATF3', 'score': 10.89}, {'connected_gene': 'LOC105372907', 'score': 9.08}, {'connected_gene': 'LINC01740', 'score': 0.39}, {'connected_gene': 'LOC105372908', 'score': 0.37}]
chr1 GH01I212586 212586248 212587508 0.76 [{'connected_gene': 'ATF3', 'score': 12.66}, {'connected_gene': 'BATF3', 'score': 10.37}, {'connected_gene': 'GC01M212615', 'score': 0.31}]
chr1 GH01I212682 212682038 212682183 0.5 [{'connected_gene': 'ATF3', 'score': 2.49}, {'connected_gene': 'RPS6KC1', 'score': 1.43}, {'connected_gene': 'GC01P212693', 'score': 0.39}, {'connected_gene': 'LOC102723761', 'score': 0.37}]
chr1 GH01I212495 212495708 212496102 0.68 [{'connected_gene': 'ATF3', 'score': 34.26}, {'connected_gene': 'FAM71A', 'score': 10.78}, {'connected_gene': 'ENSG00000235862', 'score': 10.77}, {'connected_gene': 'BATF3', 'score': 10.26}, {'connected_gene': 'VASH2', 'score': 9.1}, {'connected_gene': 'LOC105372908', 'score': 0.37}, {'connected_gene': 'LOC105372907', 'score': 0.34}]
chr1 GH01I212566 212565358 212565417 0.89 [{'connected_gene': 'ATF3', 'score': 550.77}, {'connected_gene': 'GC01M212615', 'score': 0.23}]
chr1 GH01I212469 212469639 212470921 1.23 [{'connected_gene': 'NENF', 'score': 12.1}, {'connected_gene': 'FAM71A', 'score': 11.48}, {'connected_gene': 'ENSG00000235862', 'score': 11.48}, {'connected_gene': 'ATF3', 'score': 11.41}, {'connected_gene': 'TMEM206', 'score': 11.17}, {'connected_gene': 'BATF3', 'score': 10.93}, {'connected_gene': 'LOC105372907', 'score': 10.52}, {'connected_gene': 'ENSG00000212187', 'score': 9.83}, {'connected_gene': 'VASH2', 'score': 9.66}]
chr1 GH01I212634 212634528 212640217 1.67 [{'connected_gene': 'LOC105372909', 'score': 550.77}, {'connected_gene': 'ATF3', 'score': 12.25}, {'connected_gene': 'BATF3', 'score': 10.81}, {'connected_gene': 'RPS6KC1', 'score': 6.5}, {'connected_gene': 'FLVCR1-AS1', 'score': 4.77}, {'connected_gene': 'TATDN3', 'score': 4.57}, {'connected_gene': 'PPP2R5A', 'score': 2.55}, {'connected_gene': 'VASH2', 'score': 2.09}, {'connected_gene': 'ENSG00000235862', 'score': 0.39}, {'connected_gene': 'LOC102723761', 'score': 0.31}]
chr1 GH01I212466 212466310 212468400 1.03 [{'connected_gene': 'LOC105372907', 'score': 16.16}, {'connected_gene': 'TMEM206', 'score': 11.17}, {'connected_gene': 'ATF3', 'score': 11.04}, {'connected_gene': 'BATF3', 'score': 10.8}, {'connected_gene': 'NENF', 'score': 0.29}]
chr1 GH01I212481 212481825 212490008 1.8 [{'connected_gene': 'LOC105372907', 'score': 47.91}, {'connected_gene': 'ATF3', 'score': 39.06}, {'connected_gene': 'ANGEL2', 'score': 11.64}, {'connected_gene': 'BATF3', 'score': 10.72}, {'connected_gene': 'RPL21P28', 'score': 10.09}, {'connected_gene': 'LOC105372908', 'score': 0.31}]
chr1 GH01I212506 212506764 212508137 0.38 [{'connected_gene': 'LOC105372907', 'score': 15.69}, {'connected_gene': 'ATF3', 'score': 11.62}, {'connected_gene': 'BATF3', 'score': 10.36}, {'connected_gene': 'TMEM206', 'score': 10.31}, {'connected_gene': 'ENSG00000260805', 'score': 5.61}, {'connected_gene': 'LOC105372908', 'score': 0.44}]
chr1 GH01I212490 212490735 212492063 1.22 [{'connected_gene': 'LOC105372907', 'score': 40.41}, {'connected_gene': 'ATF3', 'score': 38.83}, {'connected_gene': 'BATF3', 'score': 10.59}, {'connected_gene': 'LOC105372908', 'score': 0.34}]
chr1 GH01I212497 212497819 212498942 0.92 [{'connected_gene': 'LOC105372907', 'score': 39.5}, {'connected_gene': 'ATF3', 'score': 11.3}, {'connected_gene': 'NENF', 'score': 11.2}, {'connected_gene': 'BATF3', 'score': 10.15}, {'connected_gene': 'TMEM206', 'score': 9.84}, {'connected_gene': 'LOC105372908', 'score': 0.37}]
chr1 GH01I212476 212476947 212478598 1.59 [{'connected_gene': 'LOC105372907', 'score': 42.52}, {'connected_gene': 'ATF3', 'score': 27.74}, {'connected_gene': 'NENF', 'score': 11.92}, {'connected_gene': 'FAM71A', 'score': 11.49}, {'connected_gene': 'ENSG00000235862', 'score': 11.49}, {'connected_gene': 'BATF3', 'score': 10.93}, {'connected_gene': 'TMEM206', 'score': 10.31}, {'connected_gene': 'RPL21P28', 'score': 10.09}, {'connected_gene': 'ENSG00000212187', 'score': 9.83}, {'connected_gene': 'VASH2', 'score': 9.66}, {'connected_gene': 'LOC105372908', 'score': 0.28}]
chr1 GH01I212474 212474174 212475868 0.46 [{'connected_gene': 'LOC105372907', 'score': 16.09}, {'connected_gene': 'NENF', 'score': 11.92}, {'connected_gene': 'FAM71A', 'score': 11.49}, {'connected_gene': 'ENSG00000235862', 'score': 11.48}, {'connected_gene': 'ATF3', 'score': 11.42}, {'connected_gene': 'BATF3', 'score': 10.93}, {'connected_gene': 'TMEM206', 'score': 10.32}, {'connected_gene': 'ENSG00000212187', 'score': 9.83}, {'connected_gene': 'VASH2', 'score': 9.66}, {'connected_gene': 'ENSG00000260805', 'score': 5.54}, {'connected_gene': 'LOC105372908', 'score': 0.28}]
chr1 GH01I212471 212471244 212473023 0.31 [{'connected_gene': 'LOC105372907', 'score': 598.66}, {'connected_gene': 'NENF', 'score': 11.93}, {'connected_gene': 'FAM71A', 'score': 11.48}, {'connected_gene': 'ENSG00000235862', 'score': 11.48}, {'connected_gene': 'ATF3', 'score': 11.42}, {'connected_gene': 'BATF3', 'score': 10.93}, {'connected_gene': 'TMEM206', 'score': 10.32}, {'connected_gene': 'ENSG00000212187', 'score': 9.83}, {'connected_gene': 'VASH2', 'score': 9.66}]
chr1 GH01I212254 212254013 212257599 1.58 [{'connected_gene': 'LOC101929541', 'score': 40.28}, {'connected_gene': 'PPP2R5A', 'score': 27.28}, {'connected_gene': 'TMEM206', 'score': 5.19}, {'connected_gene': 'LPGAT1', 'score': 4.08}, {'connected_gene': 'ATF3', 'score': 1.15}, {'connected_gene': 'GC01P212241', 'score': 0.39}]
chr1 GH01I212683 212682368 212684000 1.23 [{'connected_gene': 'RPL21P28', 'score': 10.08}, {'connected_gene': 'ATF3', 'score': 9.94}, {'connected_gene': 'RPS6KC1', 'score': 7.5}, {'connected_gene': 'BATF3', 'score': 6.26}, {'connected_gene': 'SPATA45', 'score': 5.34}, {'connected_gene': 'TATDN3', 'score': 4.38}, {'connected_gene': 'GC01P212693', 'score': 0.44}, {'connected_gene': 'LOC102723761', 'score': 0.37}]
chr1 GH01I212557 212557540 212562360 2 [{'connected_gene': 'ENSG00000260805', 'score': 557.4}, {'connected_gene': 'GC01M212558', 'score': 550.77}, {'connected_gene': 'ANGEL2', 'score': 11.43}, {'connected_gene': 'FLVCR1', 'score': 10.88}, {'connected_gene': 'ATF3', 'score': 0.44}]
chr1 GH01I212613 212613398 212615087 1.1 [{'connected_gene': 'GC01M212615', 'score': 550.77}, {'connected_gene': 'ATF3', 'score': 550.25}, {'connected_gene': 'BATF3', 'score': 10.76}]
chr1 GH01I212614 212613327 212613368 0.2 [{'connected_gene': 'GC01M212615', 'score': 0.77}, {'connected_gene': 'ATF3', 'score': 0.25}]
chr1 GH01I212664 212664839 212669048 2.01 [{'connected_gene': 'ENSG00000237980', 'score': 550.77}, {'connected_gene': 'LOC102723761', 'score': 550.77}, {'connected_gene': 'FAM71A', 'score': 11.15}, {'connected_gene': 'DTL', 'score': 9.89}, {'connected_gene': 'SPATA45', 'score': 8.99}, {'connected_gene': 'PPP2R5A', 'score': 6.03}, {'connected_gene': 'ATF3', 'score': 6.0}, {'connected_gene': 'BATF3', 'score': 5.17}, {'connected_gene': 'ANGEL2', 'score': 4.61}, {'connected_gene': 'RPS6KC1', 'score': 2.72}, {'connected_gene': 'GC01P212693', 'score': 0.31}]