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
ENST00000378789 [[7863627, 7864310], [7866167, 7866237], [7866352, 7866511], [7875779, 7875871], [7886800, 7886976], [7894810, 7895066], [7915130, 7915282], [7920932, 7921121]] [[7864239, 7864310], [7866167, 7866237], [7866352, 7866511], [7875779, 7875871], [7886800, 7886976], [7894810, 7895066], [7915130, 7915282], [7920932, 7921069]]
NM_017545 [[7863630, 7864310], [7866167, 7866237], [7866352, 7866511], [7875779, 7875871], [7886800, 7886976], [7894810, 7895066], [7915130, 7915282], [7920932, 7921093]] [[7864239, 7864310], [7866167, 7866237], [7866352, 7866511], [7875779, 7875871], [7886800, 7886976], [7894810, 7895066], [7915130, 7915282], [7920932, 7921069]]
Promoter
Chrom Start End Description
chr20 7921090 7921115 CAGE_peak_1_at_HAO1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I007924 7924354 7925724 0.86 [{'connected_gene': 'TMX4', 'score': 5.58}, {'connected_gene': 'HAO1', 'score': 1.48}, {'connected_gene': 'ENSG00000277315', 'score': 0.22}]
chr20 GH20I007936 7936201 7936846 0.93 [{'connected_gene': 'HAO1', 'score': 0.77}, {'connected_gene': 'ENSG00000277315', 'score': 0.2}]
chr20 GH20I007911 7911550 7913119 0.2 [{'connected_gene': 'HAO1', 'score': 0.31}, {'connected_gene': 'ENSG00000277315', 'score': 0.25}]
chr20 GH20I007940 7940448 7940507 0.9 [{'connected_gene': 'HAO1', 'score': 550.77}, {'connected_gene': 'GC20P007955', 'score': 0.39}]
chr20 GH20I007935 7935201 7935400 0.57 [{'connected_gene': 'HAO1', 'score': 0.44}, {'connected_gene': 'ENSG00000277315', 'score': 0.2}]