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
ENST00000390666 [[112768250, 112770728]] [[112769432, 112770536]]
NM_032028 [[112768250, 112770728]] [[112769432, 112770536]]
Promoter
Chrom Start End Description
chr5 112770653 112770671 CAGE_peak_2_at_TSSK1B_5end
chr5 112770674 112770691 CAGE_peak_1_at_TSSK1B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I113434 113434979 113435038 0.5 [{'connected_gene': 'TSSK1B', 'score': 550.77}, {'connected_gene': 'PIR36574', 'score': 0.37}, {'connected_gene': 'GC05M113418', 'score': 0.37}, {'connected_gene': 'MCC', 'score': 0.23}, {'connected_gene': 'ENSG00000232633', 'score': 0.14}]
chr5 GH05I113425 113425921 113428893 0.31 [{'connected_gene': 'YTHDC2', 'score': 6.59}, {'connected_gene': 'PIR36574', 'score': 0.44}, {'connected_gene': 'TSSK1B', 'score': 0.44}, {'connected_gene': 'GC05M113418', 'score': 0.44}, {'connected_gene': 'MCC', 'score': 0.21}, {'connected_gene': 'ENSG00000232633', 'score': 0.15}]
chr5 GH05I113487 113487225 113490311 1.99 [{'connected_gene': 'MCC', 'score': 550.77}, {'connected_gene': 'YTHDC2', 'score': 42.44}, {'connected_gene': 'ENSG00000272389', 'score': 9.95}, {'connected_gene': 'TSSK1B', 'score': 0.23}]