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
ENST00000263321 [[88910619, 88911940], [88924369, 88924586], [88960990, 88961138], [89017940, 89018122], [89028310, 89028927]] [[88911121, 88911940], [88924369, 88924586], [88960990, 88961138], [89017940, 89018122], [89028310, 89028534]]
ENST00000526139 [[88911060, 88911940], [88924369, 88924586], [88933430, 88933779]] None
ENST00000528243 [[89016934, 89017116], [89017940, 89018122], [89028310, 89028476]] None
NM_000372 [[88911039, 88911940], [88924369, 88924586], [88960990, 88961138], [89017940, 89018122], [89028310, 89028927]] [[88911121, 88911940], [88924369, 88924586], [88960990, 88961138], [89017940, 89018122], [89028310, 89028534]]
Promoter
Chrom Start End Description
chr11 88911033 88911049 CAGE_peak_1_at_TYR_5end
chr11 88911074 88911102 CAGE_peak_2_at_TYR_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I089168 89168527 89168733 0.22 [{'connected_gene': 'TYR', 'score': 13.93}, {'connected_gene': 'GRM5', 'score': 0.15}]
chr11 GH11I089175 89175969 89176073 0.4 [{'connected_gene': 'TYR', 'score': 570.13}, {'connected_gene': 'GRM5', 'score': 0.14}]
chr11 GH11I089177 89177826 89177885 0.5 [{'connected_gene': 'TYR', 'score': 550.77}, {'connected_gene': 'GC11P089246', 'score': 0.2}]
chr11 GH11I089294 89294001 89294602 0.7 [{'connected_gene': 'CBX3P7', 'score': 550.77}, {'connected_gene': 'ENSG00000279297', 'score': 0.77}, {'connected_gene': 'TYR', 'score': 0.13}]