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
ENST00000453363 [[61972274, 61972579], [61973434, 61973595], [61973861, 61974013]] [[61972381, 61972579], [61973434, 61973595], [61973861, 61973871]]
ENST00000316193 [[61972277, 61972579], [61972832, 61972997], [61973090, 61973210], [61973434, 61973595], [61973861, 61974013]] [[61972381, 61972579], [61972832, 61972997], [61973090, 61973210], [61973434, 61973595], [61973861, 61973871]]
ENST00000329882 [[61972286, 61972997], [61973090, 61973210], [61973434, 61973595], [61973861, 61973942]] [[61972517, 61972997], [61973090, 61973210], [61973434, 61973595], [61973861, 61973871]]
ENST00000558284 [[61972290, 61972997], [61973090, 61973969]] None
ENST00000558661 [[61973190, 61973595], [61973861, 61974021]] None
NM_001317 [[61972267, 61972579], [61972832, 61972997], [61973090, 61973210], [61973434, 61973595], [61973861, 61974021]] [[61972381, 61972579], [61972832, 61972997], [61973090, 61973210], [61973434, 61973595], [61973861, 61973871]]
Promoter
Chrom Start End Description
chr17 61972373 61972412 CAGE_peak_2_at_CSH1_5end
chr17 61973889 61973921 CAGE_peak_1_at_CSH1_5end
chr17 61973929 61973936 CAGE_peak_3_at_CSH1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I063896 63896562 63896621 0.5 [{'connected_gene': 'CSH1', 'score': 550.77}, {'connected_gene': 'ENSG00000259533', 'score': 0.39}]