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
ENST00000371649 [[139756570, 139756948], [139757357, 139757451], [139757739, 139757900], [139758271, 139758323], [139760632, 139760737]] [[139756907, 139756948], [139757357, 139757451], [139757739, 139757900], [139758271, 139758323], [139760632, 139760710]]
ENST00000224073 [[139756570, 139756797], [139757357, 139757451], [139757739, 139757900], [139758271, 139758323], [139760632, 139760738]] [[139756735, 139756797], [139757357, 139757451], [139757739, 139757900], [139758271, 139758323], [139760632, 139760710]]
ENST00000371648 [[139756941, 139757451], [139757739, 139757900], [139758271, 139758323], [139760632, 139760718]] [[139757322, 139757451], [139757739, 139757900], [139758271, 139758323], [139760632, 139760710]]
NM_001281297 [[139756565, 139756948], [139757357, 139757451], [139757739, 139757900], [139758271, 139758323], [139760632, 139760788]] [[139756907, 139756948], [139757357, 139757451], [139757739, 139757900], [139758271, 139758323], [139760632, 139760710]]
NM_003792 [[139756565, 139756797], [139757357, 139757451], [139757739, 139757900], [139758271, 139758323], [139760632, 139760788]] [[139756735, 139756797], [139757357, 139757451], [139757739, 139757900], [139758271, 139758323], [139760632, 139760710]]
NM_001281299 [[139756565, 139756797], [139757357, 139757451], [139757793, 139757900], [139758271, 139758323], [139760632, 139760788]] [[139756735, 139756797], [139757357, 139757451], [139757793, 139757900], [139758271, 139758323], [139760632, 139760710]]
NM_001281298 [[139756565, 139756797], [139757357, 139757451], [139757802, 139757900], [139758271, 139758323], [139760632, 139760788]] [[139756735, 139756797], [139757357, 139757451], [139757802, 139757900], [139758271, 139758323], [139760632, 139760710]]
NM_153200 [[139757120, 139757451], [139757739, 139757900], [139758271, 139758323], [139760632, 139760788]] [[139757322, 139757451], [139757739, 139757900], [139758271, 139758323], [139760632, 139760710]]
Promoter
Chrom Start End Description
chr9 139760717 139760728 CAGE_peak_2_at_EDF1_5end
chr9 139760746 139760769 CAGE_peak_1_at_EDF1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I136864 136864894 136867217 2.01 [{'connected_gene': 'EDF1', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 29.59}, {'connected_gene': 'SDCCAG3', 'score': 25.73}, {'connected_gene': 'ANAPC2', 'score': 22.17}, {'connected_gene': 'LOC651337', 'score': 15.59}, {'connected_gene': 'INPP5E', 'score': 13.69}, {'connected_gene': 'DPH7', 'score': 12.41}, {'connected_gene': 'PHPT1', 'score': 11.73}, {'connected_gene': 'RABL6', 'score': 10.43}, {'connected_gene': 'LCN12', 'score': 8.56}, {'connected_gene': 'LCNL1', 'score': 6.23}, {'connected_gene': 'MAMDC4', 'score': 0.37}]
chr9 GH09I136875 136875350 136875418 0.77 [{'connected_gene': 'EDF1', 'score': 0.44}, {'connected_gene': 'TRAF2', 'score': 0.44}]
chr9 GH09I136876 136875269 136875298 0.77 [{'connected_gene': 'EDF1', 'score': 0.44}, {'connected_gene': 'TRAF2', 'score': 0.44}]
chr9 GH09I136846 136846758 136862792 2.28 [{'connected_gene': 'PHPT1', 'score': 561.19}, {'connected_gene': 'MAMDC4', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 29.94}, {'connected_gene': 'SDCCAG3', 'score': 24.18}, {'connected_gene': 'LOC651337', 'score': 15.59}, {'connected_gene': 'ANAPC2', 'score': 11.8}, {'connected_gene': 'DPH7', 'score': 10.62}, {'connected_gene': 'LCN12', 'score': 8.45}, {'connected_gene': 'DPP7', 'score': 5.17}, {'connected_gene': 'EDF1', 'score': 0.39}, {'connected_gene': 'AJM1', 'score': 0.39}]