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
ENST00000250863 [[16628298, 16630220], [16633556, 16633655], [16635161, 16635275], [16636039, 16636090], [16636820, 16636892], [16638256, 16638396], [16638494, 16638558], [16638996, 16639048], [16639593, 16639685], [16639958, 16640105], [16645946, 16646297]] [[16630166, 16630220], [16633556, 16633655], [16635161, 16635275], [16636039, 16636090], [16636820, 16636892], [16638256, 16638396], [16638494, 16638558], [16638996, 16639048], [16639593, 16639685], [16639958, 16640105], [16645946, 16646009]]
ENST00000399444 [[16628298, 16630220], [16633556, 16633655], [16635161, 16635275], [16636039, 16636090], [16636820, 16636892], [16638256, 16638396], [16638494, 16638558], [16638996, 16639048], [16639593, 16639685], [16639958, 16640105], [16646709, 16647006]] [[16630166, 16630220], [16633556, 16633655], [16635161, 16635275], [16636039, 16636090], [16636820, 16636892], [16638256, 16638396], [16638494, 16638558], [16638996, 16639048], [16639593, 16639685], [16639958, 16640105], [16646709, 16646712]]
ENST00000454457 [[16638256, 16638396], [16638494, 16638558], [16638996, 16639048], [16639593, 16639685], [16639958, 16640105], [16679391, 16679592], [16711784, 16711813]] [[16638256, 16638396], [16638494, 16638558], [16638996, 16639048], [16639593, 16639685], [16639958, 16640105], [16679391, 16679508]]
NM_001190811 [[16628298, 16630220], [16633556, 16633655], [16635161, 16635275], [16636039, 16636090], [16636820, 16636892], [16638256, 16638396], [16638494, 16638558], [16638996, 16639048], [16639593, 16639685], [16639958, 16640105], [16645946, 16646297]] [[16630166, 16630220], [16633556, 16633655], [16635161, 16635275], [16636039, 16636090], [16636820, 16636892], [16638256, 16638396], [16638494, 16638558], [16638996, 16639048], [16639593, 16639685], [16639958, 16640105], [16645946, 16646009]]
NM_001351 [[16628298, 16630220], [16633556, 16633655], [16635161, 16635275], [16636039, 16636090], [16636820, 16636892], [16638256, 16638396], [16638494, 16638558], [16638996, 16639048], [16639593, 16639685], [16639958, 16640105], [16646709, 16647006]] [[16630166, 16630220], [16633556, 16633655], [16635161, 16635275], [16636039, 16636090], [16636820, 16636892], [16638256, 16638396], [16638494, 16638558], [16638996, 16639048], [16639593, 16639685], [16639958, 16640105], [16646709, 16646712]]
Promoter
Chrom Start End Description
chr3 16646923 16646935 CAGE_peak_1_at_DAZL_5end
chr3 16646949 16646953 CAGE_peak_2_at_DAZL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I016361 16361239 16361355 0.22 [{'connected_gene': 'DAZL', 'score': 37.37}, {'connected_gene': 'RFTN1', 'score': 10.16}, {'connected_gene': 'ENSG00000272529', 'score': 0.37}, {'connected_gene': 'OXNAD1', 'score': 0.15}, {'connected_gene': 'GC03P016476', 'score': 0.13}, {'connected_gene': 'GC03M015947', 'score': 0.12}]
chr3 GH03I016662 16662327 16667215 1.25 [{'connected_gene': 'DAZL', 'score': 0.44}, {'connected_gene': 'GC03M016595', 'score': 0.2}, {'connected_gene': 'PIR37155', 'score': 0.2}]
chr3 GH03I016604 16604738 16604797 0.5 [{'connected_gene': 'DAZL', 'score': 550.2}, {'connected_gene': 'GC03M016595', 'score': 0.44}, {'connected_gene': 'PIR37155', 'score': 0.44}]
chr3 GH03I016654 16654437 16655889 0.46 [{'connected_gene': 'DAZL', 'score': 0.37}, {'connected_gene': 'GC03M016595', 'score': 0.22}, {'connected_gene': 'PIR37155', 'score': 0.22}]
chr3 GH03I016605 16605187 16606844 1.07 [{'connected_gene': 'DAZL', 'score': 560.34}, {'connected_gene': 'GC03M016595', 'score': 0.39}, {'connected_gene': 'PIR37155', 'score': 0.39}]
chr3 GH03I016656 16656560 16661127 0.84 [{'connected_gene': 'DAZL', 'score': 0.39}, {'connected_gene': 'GC03M016595', 'score': 0.21}, {'connected_gene': 'PIR37155', 'score': 0.21}]
chr3 GH03I016661 16661491 16661663 0.31 [{'connected_gene': 'DAZL', 'score': 0.44}, {'connected_gene': 'GC03M016595', 'score': 0.2}, {'connected_gene': 'PIR37155', 'score': 0.2}]
chr3 GH03I016673 16673497 16673875 0.43 [{'connected_gene': 'DAZL', 'score': 0.77}, {'connected_gene': 'PIR34564', 'score': 0.39}]
chr3 GH03I016670 16670394 16670603 0.58 [{'connected_gene': 'DAZL', 'score': 550.77}, {'connected_gene': 'PIR34564', 'score': 0.39}]
chr3 GH03I016671 16670720 16672558 0.58 [{'connected_gene': 'DAZL', 'score': 550.77}, {'connected_gene': 'PIR34564', 'score': 0.39}]
chr3 GH03I016609 16609687 16611164 0.38 [{'connected_gene': 'GC03M016595', 'score': 0.37}, {'connected_gene': 'PIR37155', 'score': 0.37}, {'connected_gene': 'DAZL', 'score': 0.22}]