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
ENST00000304725 [[23804405, 23804740], [23805846, 23805960], [23807069, 23807368]] [[23804656, 23804740], [23805846, 23805960], [23807069, 23807297]]
NM_001322 [[23804403, 23804740], [23805846, 23805960], [23807069, 23807312]] [[23804656, 23804740], [23805846, 23805960], [23807069, 23807297]]
Promoter
Chrom Start End Description
chr20 23807100 23807121 CAGE_peak_3_at_CST2_5end
chr20 23807149 23807173 CAGE_peak_2_at_CST2_5end
chr20 23807358 23807372 CAGE_peak_1_at_CST2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I023868 23868004 23871294 0.2 [{'connected_gene': 'CST5', 'score': 8.78}, {'connected_gene': 'CST2', 'score': 0.26}]
chr20 GH20I023873 23873444 23873593 0.2 [{'connected_gene': 'CST5', 'score': 6.18}, {'connected_gene': 'CST2', 'score': 0.25}]
chr20 GH20I023857 23857666 23858571 0.2 [{'connected_gene': 'CST5', 'score': 8.79}, {'connected_gene': 'CST2', 'score': 0.29}]
chr20 GH20I023866 23866976 23867579 0.43 [{'connected_gene': 'CST2', 'score': 4.62}, {'connected_gene': 'CST5', 'score': 0.39}]
chr20 GH20I023826 23826718 23826777 0.76 [{'connected_gene': 'CST2', 'score': 558.69}, {'connected_gene': 'CST5', 'score': 0.23}]