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
ENST00000594378 [[43225789, 43226242], [43228093, 43228177], [43233274, 43233368], [43233929, 43234208], [43236935, 43237214], [43237538, 43237878], [43242875, 43243241], [43243472, 43243524]] [[43237819, 43237878], [43242875, 43243092]]
ENST00000327495 [[43225793, 43226242], [43228093, 43228177], [43233274, 43233529], [43233929, 43234208], [43236935, 43237214], [43242875, 43243241], [43244472, 43244721]] [[43228133, 43228177], [43233274, 43233529], [43233929, 43234208], [43236935, 43237214], [43242875, 43243241], [43244472, 43244536]]
ENST00000595140 [[43225854, 43226242], [43233274, 43233529], [43233929, 43234208], [43236935, 43237214], [43242875, 43243241], [43244472, 43244629]] [[43226057, 43226242], [43233274, 43233529], [43233929, 43234208], [43236935, 43237214], [43242875, 43243241], [43244472, 43244536]]
ENST00000597009 [[43236059, 43237214], [43242875, 43243241], [43244472, 43244626]] None
ENST00000490592 [[43237740, 43237878], [43238198, 43238347], [43242875, 43243241], [43243472, 43243628]] None
NM_021016 [[43225793, 43226242], [43228093, 43228177], [43233274, 43233529], [43233929, 43234208], [43236935, 43237214], [43242875, 43243241], [43244472, 43244668]] [[43228133, 43228177], [43233274, 43233529], [43233929, 43234208], [43236935, 43237214], [43242875, 43243241], [43244472, 43244536]]
Promoter
Chrom Start End Description
chr19 43244610 43244652 CAGE_peak_1_at_PSG3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I042740 42740471 42740530 0.5 [{'connected_gene': 'PSG3', 'score': 550.77}, {'connected_gene': 'PIR38528', 'score': 0.25}]
chr19 GH19I042760 42760143 42763591 1.17 [{'connected_gene': 'PSG8', 'score': 15.87}, {'connected_gene': 'PSG5', 'score': 2.26}, {'connected_gene': 'CEACAM1', 'score': 1.43}, {'connected_gene': 'GC19M042749', 'score': 0.44}, {'connected_gene': 'PSG3', 'score': 0.34}]
chr19 GH19I042765 42765668 42765727 0.5 [{'connected_gene': 'PSG8', 'score': 550.17}, {'connected_gene': 'GC19M042749', 'score': 0.77}, {'connected_gene': 'PSG3', 'score': 0.31}]
chr19 GH19I042735 42735600 42738140 0.77 [{'connected_gene': 'PSG8', 'score': 10.41}, {'connected_gene': 'PSG3', 'score': 0.77}, {'connected_gene': 'PIR38528', 'score': 0.26}]