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
ENST00000425639 [[44746292, 44746381], [44756829, 44756928], [44757305, 44757371], [44771278, 44771353], [44771868, 44771932], [44772941, 44775554]] [[44746292, 44746381], [44756829, 44756928], [44757305, 44757371], [44771278, 44771353], [44771868, 44771932], [44772941, 44775554]]
ENST00000400404 [[44757493, 44757535], [44771278, 44771353], [44774780, 44775554]] [[44757493, 44757535], [44771278, 44771353], [44774780, 44775554]]
NM_001278063 [[44738459, 44738522], [44746313, 44746381], [44756829, 44756928], [44757305, 44757371], [44771278, 44771353], [44771868, 44771932], [44772941, 44775554]] [[44738459, 44738522], [44746313, 44746381], [44756829, 44756928], [44757305, 44757371], [44771278, 44771353], [44771868, 44771932], [44772941, 44775554]]
NM_001037802 [[44757493, 44757535], [44771278, 44771353], [44774780, 44775554]] [[44757493, 44757535], [44771278, 44771353], [44774780, 44775554]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I047263 47263350 47263479 0.59 [{'connected_gene': 'SKOR2', 'score': 0.39}, {'connected_gene': 'MIR4527HG', 'score': 0.34}, {'connected_gene': 'GC18P047085', 'score': 0.1}]
chr18 GH18I047249 47249096 47249155 0.73 [{'connected_gene': 'SKOR2', 'score': 550.77}, {'connected_gene': 'GC18P047244', 'score': 0.77}, {'connected_gene': 'GC18P047085', 'score': 0.1}]
chr18 GH18I047243 47243900 47244913 0.83 [{'connected_gene': 'GC18P047244', 'score': 550.77}, {'connected_gene': 'ENSG00000267724', 'score': 10.4}, {'connected_gene': 'HDHD2', 'score': 9.33}, {'connected_gene': 'PIAS2', 'score': 6.9}, {'connected_gene': 'SKOR2', 'score': 0.44}, {'connected_gene': 'GC18M047235', 'score': 0.44}, {'connected_gene': 'RNU6-1131P', 'score': 0.44}, {'connected_gene': 'GC18P047085', 'score': 0.1}]
chr18 GH18I047235 47235778 47235796 0.37 [{'connected_gene': 'GC18M047235', 'score': 550.77}, {'connected_gene': 'RNU6-1131P', 'score': 550.77}, {'connected_gene': 'KATNAL2', 'score': 4.32}, {'connected_gene': 'PIAS2', 'score': 1.2}, {'connected_gene': 'GC18P047244', 'score': 0.44}, {'connected_gene': 'SKOR2', 'score': 0.37}, {'connected_gene': 'GC18P047085', 'score': 0.1}]