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
ENST00000564085 [[77756410, 77756514], [77759327, 77759481], [77769724, 77769883], [77770546, 77770640], [77775478, 77775866]] [[77756479, 77756514], [77759327, 77759481], [77769724, 77769883], [77770546, 77770640], [77775478, 77775549]]
ENST00000268533 [[77756410, 77756514], [77759327, 77759481], [77769724, 77769883], [77775478, 77776157]] [[77756479, 77756514], [77759327, 77759481], [77769724, 77769883], [77775478, 77775847]]
ENST00000568787 [[77756412, 77756514], [77759327, 77759481], [77769724, 77770146]] [[77756479, 77756514], [77759327, 77759481], [77769724, 77769898]]
ENST00000437314 [[77756415, 77756514], [77759327, 77759481], [77775478, 77776155]] [[77756479, 77756514], [77759327, 77759481], [77775478, 77775847]]
ENST00000563839 [[77756441, 77756514], [77775478, 77775721]] [[77756479, 77756514], [77775478, 77775491]]
ENST00000564031 [[77771301, 77771350], [77775478, 77776154]] None
NM_001243661 [[77756388, 77756514], [77759327, 77759481], [77775478, 77776157]] [[77756479, 77756514], [77759327, 77759481], [77775478, 77775847]]
NM_001105663 [[77756388, 77756514], [77759327, 77759481], [77769724, 77769883], [77775478, 77776157]] [[77756479, 77756514], [77759327, 77759481], [77769724, 77769883], [77775478, 77775847]]
NM_001243657 [[77756388, 77756514], [77759327, 77759481], [77769724, 77769883], [77770546, 77770640], [77775478, 77776157]] [[77756479, 77756514], [77759327, 77759481], [77769724, 77769883], [77770546, 77770640], [77775478, 77775549]]
NM_001243660 [[77756388, 77756514], [77759327, 77759481], [77769290, 77769404], [77775478, 77776157]] [[77756479, 77756514], [77759327, 77759481], [77769290, 77769404], [77775478, 77775847]]
Promoter
Chrom Start End Description
chr16 77756370 77756383 CAGE_peak_2_at_NUDT7_5end
chr16 77756399 77756444 CAGE_peak_1_at_NUDT7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I077970 77970953 77972282 0.66 [{'connected_gene': 'NUDT7', 'score': 10.96}, {'connected_gene': 'VAT1L', 'score': 10.49}, {'connected_gene': 'WWOX', 'score': 9.83}, {'connected_gene': 'LOC105371351', 'score': 0.34}, {'connected_gene': 'CLEC3A', 'score': 0.23}]
chr16 GH16I077688 77688102 77688238 0.22 [{'connected_gene': 'NUDT7', 'score': 12.22}, {'connected_gene': 'VAT1L', 'score': 10.92}, {'connected_gene': 'WWOX', 'score': 2.61}, {'connected_gene': 'ENSG00000278862', 'score': 0.29}]
chr16 GH16I077951 77951904 77952053 0.52 [{'connected_gene': 'NUDT7', 'score': 10.53}, {'connected_gene': 'VAT1L', 'score': 10.1}, {'connected_gene': 'LOC105371351', 'score': 0.77}, {'connected_gene': 'CLEC3A', 'score': 0.19}]
chr16 GH16I077676 77675844 77676013 0.76 [{'connected_gene': 'NUDT7', 'score': 16.31}, {'connected_gene': 'VAT1L', 'score': 10.53}, {'connected_gene': 'CLEC3A', 'score': 10.37}, {'connected_gene': 'WWOX', 'score': 9.88}, {'connected_gene': 'ENSG00000278862', 'score': 0.37}]
chr16 GH16I077675 77675061 77675278 0.44 [{'connected_gene': 'NUDT7', 'score': 11.54}, {'connected_gene': 'VAT1L', 'score': 10.53}, {'connected_gene': 'CLEC3A', 'score': 10.37}, {'connected_gene': 'WWOX', 'score': 9.88}, {'connected_gene': 'ENSG00000278862', 'score': 0.37}]
chr16 GH16I077677 77677224 77677373 0.46 [{'connected_gene': 'NUDT7', 'score': 16.98}, {'connected_gene': 'VAT1L', 'score': 10.53}, {'connected_gene': 'CLEC3A', 'score': 10.37}, {'connected_gene': 'WWOX', 'score': 9.88}, {'connected_gene': 'ENSG00000278862', 'score': 0.34}]
chr16 GH16I077764 77764004 77765028 0.59 [{'connected_gene': 'NUDT7', 'score': 16.16}, {'connected_gene': 'VAT1L', 'score': 0.34}, {'connected_gene': 'ENSG00000261707', 'score': 0.34}]
chr16 GH16I077760 77760100 77761413 0.57 [{'connected_gene': 'NUDT7', 'score': 18.11}, {'connected_gene': 'ENSG00000261707', 'score': 0.37}, {'connected_gene': 'VAT1L', 'score': 0.31}]
chr16 GH16I077779 77779997 77781117 0.85 [{'connected_gene': 'NUDT7', 'score': 16.21}, {'connected_gene': 'VAT1L', 'score': 0.44}, {'connected_gene': 'ENSG00000261707', 'score': 0.28}]
chr16 GH16I077417 77417861 77419056 0.31 [{'connected_gene': 'NUDT7', 'score': 4.7}, {'connected_gene': 'ENSG00000260701', 'score': 0.39}, {'connected_gene': 'ADAMTS18', 'score': 0.37}, {'connected_gene': 'ENSG00000261063', 'score': 0.1}]
chr16 GH16I077419 77419067 77419847 0.43 [{'connected_gene': 'NUDT7', 'score': 4.69}, {'connected_gene': 'ENSG00000260701', 'score': 0.39}, {'connected_gene': 'ADAMTS18', 'score': 0.37}, {'connected_gene': 'ENSG00000261063', 'score': 0.1}]
chr16 GH16I077939 77939044 77939193 0.46 [{'connected_gene': 'NUDT7', 'score': 4.78}, {'connected_gene': 'LOC105371351', 'score': 0.39}, {'connected_gene': 'PPIAP50', 'score': 0.25}, {'connected_gene': 'VAT1L', 'score': 0.1}]
chr16 GH16I077721 77721818 77724356 2.01 [{'connected_gene': 'NUDT7', 'score': 580.38}, {'connected_gene': 'ENSG00000261707', 'score': 8.8}]
chr16 GH16I077966 77965739 77969136 0.49 [{'connected_gene': 'CLEC3A', 'score': 19.5}, {'connected_gene': 'WWOX', 'score': 14.86}, {'connected_gene': 'NUDT7', 'score': 11.24}, {'connected_gene': 'VAT1L', 'score': 10.5}, {'connected_gene': 'LOC105371351', 'score': 0.37}]
chr16 GH16I077961 77961011 77964636 0.65 [{'connected_gene': 'CLEC3A', 'score': 15.95}, {'connected_gene': 'NUDT7', 'score': 11.24}, {'connected_gene': 'VAT1L', 'score': 10.25}, {'connected_gene': 'WWOX', 'score': 5.41}, {'connected_gene': 'LOC105371351', 'score': 0.39}]
chr16 GH16I077965 77965239 77965732 0.31 [{'connected_gene': 'CLEC3A', 'score': 16.0}, {'connected_gene': 'NUDT7', 'score': 11.24}, {'connected_gene': 'VAT1L', 'score': 10.25}, {'connected_gene': 'LOC105371351', 'score': 0.37}]
chr16 GH16I077573 77573665 77576631 0.69 [{'connected_gene': 'SYCE1L', 'score': 32.58}, {'connected_gene': 'NUDT7', 'score': 4.91}, {'connected_gene': 'LINC02131', 'score': 0.37}, {'connected_gene': 'LOC105376775', 'score': 0.22}]
chr16 GH16I077732 77732042 77733475 0.67 [{'connected_gene': 'ENSG00000261707', 'score': 14.99}, {'connected_gene': 'NUDT7', 'score': 13.56}, {'connected_gene': 'VAT1L', 'score': 11.26}]
chr16 GH16I077657 77657104 77657253 0.74 [{'connected_gene': 'ENSG00000278862', 'score': 550.77}, {'connected_gene': 'NUDT7', 'score': 11.24}, {'connected_gene': 'CLEC3A', 'score': 10.54}]