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
ENST00000245046 [[10004220, 10005881], [10011402, 10011485], [10012265, 10012345], [10015311, 10015393], [10016067, 10016172], [10018640, 10018734], [10019072, 10019130], [10028190, 10028804]] [[10005752, 10005881], [10011402, 10011485], [10012265, 10012345], [10015311, 10015393], [10016067, 10016172], [10018640, 10018734], [10019072, 10019130], [10028190, 10028345]]
ENST00000487465 [[10010327, 10011485], [10012265, 10012345], [10015311, 10015393], [10016067, 10016172], [10018640, 10018734], [10019072, 10019130], [10028190, 10028522]] None
ENST00000497557 [[10011412, 10011485], [10012265, 10012345], [10015311, 10015393], [10016067, 10016172], [10018640, 10018734], [10019072, 10019130], [10019893, 10019981]] None
ENST00000429759 [[10015189, 10015393], [10016067, 10016172], [10018640, 10018734], [10019072, 10019130], [10023317, 10023431], [10028190, 10028366]] [[10015307, 10015393], [10016067, 10016172], [10018640, 10018734], [10019072, 10019130], [10023317, 10023431], [10028190, 10028345]]
ENST00000470827 [[10018712, 10018734], [10019072, 10019130], [10028190, 10028586], [10052706, 10052800]] [[10018712, 10018734], [10019072, 10019130], [10028190, 10028345]]
NM_018447 [[10004363, 10005881], [10011402, 10011485], [10012265, 10012345], [10015311, 10015393], [10016067, 10016172], [10018640, 10018734], [10019072, 10019130], [10028190, 10028586], [10052706, 10052932]] [[10005752, 10005881], [10011402, 10011485], [10012265, 10012345], [10015311, 10015393], [10016067, 10016172], [10018640, 10018734], [10019072, 10019130], [10028190, 10028345]]
Promoter
Chrom Start End Description
chr3 10028471 10028552 CAGE_peak_1_at_TMEM111_5end
chr3 10029074 10029081 CAGE_peak_4_at_TMEM111_5end
chr3 10052763 10052816 CAGE_peak_2_at_TMEM111_5end
chr3 10052818 10052836 CAGE_peak_3_at_TMEM111_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I009969 9969155 9971726 0.69 [{'connected_gene': 'BRK1', 'score': 15.74}, {'connected_gene': 'FANCD2OS', 'score': 15.04}, {'connected_gene': 'IL17RC', 'score': 11.15}, {'connected_gene': 'RNU6-882P', 'score': 11.15}, {'connected_gene': 'IL17RE', 'score': 11.12}, {'connected_gene': 'CIDECP', 'score': 10.75}, {'connected_gene': 'FANCD2', 'score': 10.75}, {'connected_gene': 'VHL', 'score': 10.58}, {'connected_gene': 'RPUSD3', 'score': 10.54}, {'connected_gene': 'JAGN1', 'score': 10.42}, {'connected_gene': 'RNU6-670P', 'score': 10.4}, {'connected_gene': 'TTLL3', 'score': 10.03}, {'connected_gene': 'IRAK2', 'score': 9.97}, {'connected_gene': 'TADA3', 'score': 9.68}, {'connected_gene': 'ARPC4', 'score': 9.68}, {'connected_gene': 'ARPC4-TTLL3', 'score': 9.68}, {'connected_gene': 'PIR52243', 'score': 0.44}, {'connected_gene': 'PIR57234', 'score': 0.44}, {'connected_gene': 'EMC3', 'score': 0.26}]
chr3 GH03I009985 9985889 9988375 2.1 [{'connected_gene': 'EMC3-AS1', 'score': 550.77}, {'connected_gene': 'EMC3', 'score': 550.34}, {'connected_gene': 'FANCD2', 'score': 22.03}, {'connected_gene': 'BRPF1', 'score': 19.85}, {'connected_gene': 'BRK1', 'score': 15.69}, {'connected_gene': 'GHRLOS', 'score': 13.16}, {'connected_gene': 'RNU6-670P', 'score': 12.35}, {'connected_gene': 'FANCD2OS', 'score': 11.73}, {'connected_gene': 'PRRT3', 'score': 11.48}, {'connected_gene': 'SETD5', 'score': 11.07}, {'connected_gene': 'RPUSD3', 'score': 11.06}, {'connected_gene': 'SEC13', 'score': 10.98}, {'connected_gene': 'GHRL', 'score': 10.5}, {'connected_gene': 'TTLL3', 'score': 10.31}, {'connected_gene': 'CRELD1', 'score': 7.35}, {'connected_gene': 'FANCD2P1', 'score': 0.44}]
chr3 GH03I009983 9983048 9983226 0.65 [{'connected_gene': 'TTLL3', 'score': 23.24}, {'connected_gene': 'BRPF1', 'score': 16.68}, {'connected_gene': 'SETD5', 'score': 13.02}, {'connected_gene': 'FANCD2', 'score': 12.38}, {'connected_gene': 'RNU6-670P', 'score': 12.35}, {'connected_gene': 'PRRT3', 'score': 11.48}, {'connected_gene': 'GHRLOS', 'score': 11.37}, {'connected_gene': 'RPUSD3', 'score': 11.07}, {'connected_gene': 'THUMPD3-AS1', 'score': 10.95}, {'connected_gene': 'GHRL', 'score': 10.5}, {'connected_gene': 'EMC3-AS1', 'score': 0.77}, {'connected_gene': 'PIR57234', 'score': 0.44}, {'connected_gene': 'EMC3', 'score': 0.31}]
chr3 GH03I009995 9994601 9994800 0.31 [{'connected_gene': 'FANCD2P1', 'score': 550.77}, {'connected_gene': 'BRK1', 'score': 15.69}, {'connected_gene': 'CIDECP', 'score': 12.29}, {'connected_gene': 'FANCD2', 'score': 12.29}, {'connected_gene': 'RNU6-670P', 'score': 11.9}, {'connected_gene': 'ENSG00000206567', 'score': 4.85}, {'connected_gene': 'EMC3-AS1', 'score': 0.44}, {'connected_gene': 'CYCSP10', 'score': 0.44}, {'connected_gene': 'EMC3', 'score': 0.37}]
chr3 GH03I009994 9994033 9994496 0.51 [{'connected_gene': 'FANCD2P1', 'score': 550.77}, {'connected_gene': 'BRK1', 'score': 14.58}, {'connected_gene': 'CIDECP', 'score': 12.29}, {'connected_gene': 'FANCD2', 'score': 12.29}, {'connected_gene': 'RNU6-670P', 'score': 11.9}, {'connected_gene': 'EMC3-AS1', 'score': 0.44}, {'connected_gene': 'CYCSP10', 'score': 0.44}, {'connected_gene': 'EMC3', 'score': 0.37}]
chr3 GH03I010008 10008675 10011786 1.43 [{'connected_gene': 'ENSG00000206567', 'score': 550.77}, {'connected_gene': 'EMC3', 'score': 550.77}, {'connected_gene': 'JAGN1', 'score': 24.53}, {'connected_gene': 'SETD5', 'score': 17.04}, {'connected_gene': 'BRPF1', 'score': 14.67}, {'connected_gene': 'BRK1', 'score': 14.41}, {'connected_gene': 'RNU6-670P', 'score': 11.12}, {'connected_gene': 'FANCD2', 'score': 11.04}, {'connected_gene': 'IL17RE', 'score': 10.88}, {'connected_gene': 'PRRT3', 'score': 10.81}, {'connected_gene': 'SEC13', 'score': 10.49}, {'connected_gene': 'IRAK2', 'score': 10.37}, {'connected_gene': 'RPUSD3', 'score': 10.14}, {'connected_gene': 'CRELD1', 'score': 7.13}, {'connected_gene': 'FANCD2OS', 'score': 6.93}, {'connected_gene': 'PIR31706', 'score': 0.77}]
chr3 GH03I009975 9975795 9980631 1.47 [{'connected_gene': 'PIR57234', 'score': 550.77}, {'connected_gene': 'FANCD2', 'score': 22.17}, {'connected_gene': 'TTLL3', 'score': 21.73}, {'connected_gene': 'BRPF1', 'score': 19.79}, {'connected_gene': 'THUMPD3-AS1', 'score': 19.48}, {'connected_gene': 'BRK1', 'score': 16.36}, {'connected_gene': 'SETD5', 'score': 15.45}, {'connected_gene': 'PRRT3', 'score': 11.75}, {'connected_gene': 'CIDECP', 'score': 11.48}, {'connected_gene': 'ENSG00000269894', 'score': 11.31}, {'connected_gene': 'IL17RE', 'score': 11.1}, {'connected_gene': 'RPUSD3', 'score': 10.94}, {'connected_gene': 'VHL', 'score': 10.83}, {'connected_gene': 'JAGN1', 'score': 10.55}, {'connected_gene': 'LINC00852', 'score': 10.24}, {'connected_gene': 'TADA3', 'score': 10.12}, {'connected_gene': 'ARPC4', 'score': 10.12}, {'connected_gene': 'ARPC4-TTLL3', 'score': 10.12}, {'connected_gene': 'GHRL', 'score': 10.11}, {'connected_gene': 'IRAK2', 'score': 9.9}, {'connected_gene': 'EMC3-AS1', 'score': 0.44}, {'connected_gene': 'EMC3', 'score': 0.29}]