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
ENST00000409839 [[79384131, 79384419], [79384697, 79384824], [79385451, 79385589], [79385776, 79385895], [79386455, 79386542], [79386853, 79386879]] [[79384351, 79384419], [79384697, 79384824], [79385451, 79385589], [79385776, 79385895], [79386455, 79386531]]
ENST00000393878 [[79384132, 79384419], [79384697, 79384824], [79385451, 79385589], [79385776, 79385895], [79386455, 79386786]] [[79384351, 79384419], [79384697, 79384824], [79385451, 79385589], [79385776, 79385895], [79386455, 79386531]]
ENST00000305165 [[79384217, 79384419], [79384697, 79384824], [79385451, 79385589], [79385776, 79385895], [79386455, 79386565], [79386853, 79386875]] [[79384351, 79384419], [79384697, 79384824], [79385451, 79385589], [79385776, 79385895], [79386455, 79386531]]
ENST00000490901 [[79385773, 79385895], [79386455, 79386879]] None
ENST00000464746 [[79385974, 79386542], [79386853, 79386870]] None
NM_138938 [[79384131, 79384419], [79384697, 79384824], [79385451, 79385589], [79385776, 79385895], [79386455, 79386879]] [[79384351, 79384419], [79384697, 79384824], [79385451, 79385589], [79385776, 79385895], [79386455, 79386531]]
NM_002580 [[79384131, 79384419], [79384697, 79384824], [79385451, 79385589], [79385776, 79385895], [79386455, 79386565], [79386853, 79386880]] [[79384351, 79384419], [79384697, 79384824], [79385451, 79385589], [79385776, 79385895], [79386455, 79386531]]
NM_138937 [[79384131, 79384419], [79384697, 79384824], [79385451, 79385589], [79385776, 79385895], [79386455, 79386542], [79386853, 79386880]] [[79384351, 79384419], [79384697, 79384824], [79385451, 79385589], [79385776, 79385895], [79386455, 79386531]]
Promoter
Chrom Start End Description
chr2 79386520 79386530 CAGE_peak_2_at_REG3A_5end
chr2 79386874 79386886 CAGE_peak_1_at_REG3A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I079159 79159427 79159486 0.68 [{'connected_gene': 'REG3A', 'score': 550.77}, {'connected_gene': 'ENSG00000224879', 'score': 550.77}, {'connected_gene': 'GC02P079100', 'score': 0.22}]
chr2 GH02I079160 79159743 79159802 0.5 [{'connected_gene': 'REG3A', 'score': 550.77}, {'connected_gene': 'ENSG00000224879', 'score': 550.77}, {'connected_gene': 'PIR32625', 'score': 0.44}, {'connected_gene': 'GC02P079100', 'score': 0.22}]