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
ENST00000290378 [[35080296, 35082756], [35083314, 35083496], [35084290, 35084482], [35084608, 35084770], [35085445, 35085770], [35086880, 35087031], [35087706, 35088340]] [[35082612, 35082756], [35083314, 35083496], [35084290, 35084482], [35084608, 35084770], [35085445, 35085770], [35086880, 35087009]]
ENST00000557860 [[35083358, 35083496], [35084290, 35084482], [35084608, 35084770], [35084908, 35085052]] None
ENST00000560563 [[35083901, 35084482], [35084608, 35084723]] None
NM_005159 [[35080296, 35082756], [35083314, 35083496], [35084290, 35084482], [35084608, 35084770], [35085445, 35085770], [35086880, 35087031], [35087706, 35087927]] [[35082612, 35082756], [35083314, 35083496], [35084290, 35084482], [35084608, 35084770], [35085445, 35085770], [35086880, 35087009]]
Promoter
Chrom Start End Description
chr15 35084643 35084652 CAGE_peak_9_at_ACTC1_5end
chr15 35084709 35084723 CAGE_peak_3_at_ACTC1_5end
chr15 35084738 35084747 CAGE_peak_6_at_ACTC1_5end
chr15 35086926 35086948 CAGE_peak_4_at_ACTC1_5end
chr15 35086988 35086997 CAGE_peak_7_at_ACTC1_5end
chr15 35087019 35087042 CAGE_peak_5_at_ACTC1_5end
chr15 35087070 35087134 CAGE_peak_2_at_ACTC1_5end
chr15 35087742 35087757 CAGE_peak_1_at_ACTC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I034736 34736659 34738595 0.2 [{'connected_gene': 'ACTC1', 'score': 11.62}, {'connected_gene': 'GJD2', 'score': 0.37}, {'connected_gene': 'LINC02252', 'score': 0.2}]
chr15 GH15I034854 34854637 34856250 0.56 [{'connected_gene': 'ACTC1', 'score': 10.97}, {'connected_gene': 'GJD2', 'score': 9.49}, {'connected_gene': 'LOC101928174', 'score': 9.49}, {'connected_gene': 'ENSG00000259181', 'score': 5.87}, {'connected_gene': 'ZNF770', 'score': 4.87}, {'connected_gene': 'LOC100132824', 'score': 0.77}, {'connected_gene': 'RPL36AP8', 'score': 0.17}, {'connected_gene': 'AQR', 'score': 0.14}]
chr15 GH15I034788 34788628 34789852 0.51 [{'connected_gene': 'ACTC1', 'score': 0.44}, {'connected_gene': 'LOC101928174', 'score': 0.29}]
chr15 GH15I034790 34790057 34801628 2.23 [{'connected_gene': 'ACTC1', 'score': 556.72}, {'connected_gene': 'ENSG00000259181', 'score': 4.96}, {'connected_gene': 'LOC101928174', 'score': 0.26}]
chr15 GH15I034836 34836749 34838009 0.6 [{'connected_gene': 'ACTC1', 'score': 11.59}, {'connected_gene': 'LOC100132824', 'score': 5.29}, {'connected_gene': 'GC15P034846', 'score': 0.44}, {'connected_gene': 'GC15M034809', 'score': 0.31}]
chr15 GH15I034818 34818674 34819376 0.2 [{'connected_gene': 'ACTC1', 'score': 12.51}, {'connected_gene': 'GC15M034809', 'score': 0.39}, {'connected_gene': 'GC15P034846', 'score': 0.31}]
chr15 GH15I034817 34817914 34818640 0.31 [{'connected_gene': 'ACTC1', 'score': 12.51}, {'connected_gene': 'GC15M034809', 'score': 0.39}, {'connected_gene': 'GC15P034846', 'score': 0.31}]
chr15 GH15I034718 34718723 34730630 1.16 [{'connected_gene': 'GJD2', 'score': 20.27}, {'connected_gene': 'ACTC1', 'score': 20.15}, {'connected_gene': 'LOC101928174', 'score': 11.61}, {'connected_gene': 'AQR', 'score': 9.37}, {'connected_gene': 'LINC02252', 'score': 0.23}]
chr15 GH15I034708 34708374 34710366 0.93 [{'connected_gene': 'GJD2', 'score': 17.99}, {'connected_gene': 'ACTC1', 'score': 17.85}, {'connected_gene': 'LOC101928174', 'score': 11.12}, {'connected_gene': 'AQR', 'score': 9.4}, {'connected_gene': 'LINC02252', 'score': 0.28}]
chr15 GH15I034701 34701180 34702574 0.62 [{'connected_gene': 'GJD2', 'score': 11.2}, {'connected_gene': 'LOC101928174', 'score': 11.2}, {'connected_gene': 'ACTC1', 'score': 5.51}, {'connected_gene': 'LINC02252', 'score': 0.29}]
chr15 GH15I034804 34804320 34804469 0.4 [{'connected_gene': 'GJD2', 'score': 10.59}, {'connected_gene': 'LOC101928174', 'score': 10.59}, {'connected_gene': 'GC15M034809', 'score': 0.77}, {'connected_gene': 'ACTC1', 'score': 0.44}]
chr15 GH15I034802 34802330 34804313 0.51 [{'connected_gene': 'GJD2', 'score': 10.59}, {'connected_gene': 'LOC101928174', 'score': 10.59}, {'connected_gene': 'GC15M034809', 'score': 0.77}, {'connected_gene': 'ACTC1', 'score': 0.44}]