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
ENST00000410009 [[71057346, 71058331], [71058831, 71058950], [71060030, 71060182], [71060776, 71061151], [71062621, 71062738], [71062833, 71062952]] [[71058180, 71058331], [71058831, 71058950], [71060030, 71060182], [71060776, 71061151], [71062621, 71062738], [71062833, 71062906]]
NM_015717 [[71057342, 71058331], [71058831, 71058950], [71060030, 71060182], [71060776, 71061151], [71062621, 71062740], [71062835, 71062953]] [[71058180, 71058331], [71058831, 71058950], [71060030, 71060182], [71060776, 71061151], [71062621, 71062740], [71062835, 71062906]]
Promoter
Chrom Start End Description
chr2 71062938 71062952 CAGE_peak_1_at_CD207_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I070139 70139132 70144599 1.55 [{'connected_gene': 'TIA1', 'score': 25.75}, {'connected_gene': 'TEX261', 'score': 22.5}, {'connected_gene': 'MPHOSPH10', 'score': 12.82}, {'connected_gene': 'ANKRD53', 'score': 12.36}, {'connected_gene': 'CLEC4F', 'score': 12.29}, {'connected_gene': 'PCBP1-AS1', 'score': 11.46}, {'connected_gene': 'FAM136A', 'score': 11.26}, {'connected_gene': 'ASPRV1', 'score': 11.0}, {'connected_gene': 'CD207', 'score': 10.41}, {'connected_gene': 'PCYOX1', 'score': 9.86}, {'connected_gene': 'LINC01816', 'score': 0.37}, {'connected_gene': 'GC02P070210', 'score': 0.2}, {'connected_gene': 'GC02P069822', 'score': 0.06}]
chr2 GH02I070551 70551286 70555424 2.12 [{'connected_gene': 'TGFA', 'score': 559.23}, {'connected_gene': 'CLEC4F', 'score': 13.87}, {'connected_gene': 'TIA1', 'score': 13.57}, {'connected_gene': 'TEX261', 'score': 11.62}, {'connected_gene': 'PCBP1-AS1', 'score': 11.47}, {'connected_gene': 'CD207', 'score': 11.26}, {'connected_gene': 'VAX2', 'score': 9.69}, {'connected_gene': 'TGFA-IT1', 'score': 0.19}]
chr2 GH02I070291 70291167 70295237 2.1 [{'connected_gene': 'SNRPG', 'score': 550.77}, {'connected_gene': 'PCBP1-AS1', 'score': 34.02}, {'connected_gene': 'CLEC4F', 'score': 32.44}, {'connected_gene': 'TEX261', 'score': 30.91}, {'connected_gene': 'TIA1', 'score': 28.03}, {'connected_gene': 'GMCL1', 'score': 21.23}, {'connected_gene': 'PCYOX1', 'score': 13.45}, {'connected_gene': 'C2orf42', 'score': 11.83}, {'connected_gene': 'NAGK', 'score': 10.52}, {'connected_gene': 'CD207', 'score': 10.41}, {'connected_gene': 'ANKRD53', 'score': 10.09}, {'connected_gene': 'FAM136A', 'score': 5.02}, {'connected_gene': 'GC02P070271', 'score': 0.34}]
chr2 GH02I070509 70509615 70510944 0.99 [{'connected_gene': 'CD207', 'score': 13.76}, {'connected_gene': 'TGFA', 'score': 11.48}, {'connected_gene': 'ASPRV1', 'score': 4.41}, {'connected_gene': 'FIGLA', 'score': 1.47}, {'connected_gene': 'TGFA-IT1', 'score': 0.31}]
chr2 GH02I070850 70850867 70852500 0.82 [{'connected_gene': 'CD207', 'score': 39.72}, {'connected_gene': 'VAX2', 'score': 11.56}, {'connected_gene': 'ATP6V1B1', 'score': 11.25}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 11.17}, {'connected_gene': 'ADD2', 'score': 10.37}, {'connected_gene': 'FIGLA', 'score': 1.36}, {'connected_gene': 'LINC01143', 'score': 0.28}]
chr2 GH02I070835 70835806 70835865 0.87 [{'connected_gene': 'CD207', 'score': 550.77}, {'connected_gene': 'CLEC4F', 'score': 0.39}]
chr2 GH02I070861 70861931 70862080 0.76 [{'connected_gene': 'CD207', 'score': 0.31}, {'connected_gene': 'LINC01143', 'score': 0.31}]
chr2 GH02I071275 71275920 71278295 1.47 [{'connected_gene': 'ZNF638', 'score': 567.3}, {'connected_gene': 'LOC105374797', 'score': 550.77}, {'connected_gene': 'CLEC4F', 'score': 12.31}, {'connected_gene': 'TEX261', 'score': 11.83}, {'connected_gene': 'CD207', 'score': 10.43}, {'connected_gene': 'PAIP2B', 'score': 7.98}, {'connected_gene': 'OR7E91P', 'score': 5.0}, {'connected_gene': 'ENSG00000281195', 'score': 0.15}]
chr2 GH02I070828 70828401 70828600 0.38 [{'connected_gene': 'CLEC4F', 'score': 24.57}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 10.66}, {'connected_gene': 'ADD2', 'score': 10.42}, {'connected_gene': 'CD207', 'score': 0.44}]
chr2 GH02I070827 70827201 70827600 0.43 [{'connected_gene': 'CLEC4F', 'score': 37.19}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 10.66}, {'connected_gene': 'ADD2', 'score': 10.43}, {'connected_gene': 'CD207', 'score': 0.44}]
chr2 GH02I070871 70871419 70872056 1.07 [{'connected_gene': 'LINC01143', 'score': 0.37}, {'connected_gene': 'CD207', 'score': 0.28}]
chr2 GH02I070919 70919951 70920100 0.89 [{'connected_gene': 'ATP6V1B1-AS1', 'score': 12.27}, {'connected_gene': 'ADD2', 'score': 10.53}, {'connected_gene': 'CD207', 'score': 10.49}, {'connected_gene': 'ATP6V1B1', 'score': 0.37}, {'connected_gene': 'VAX2', 'score': 0.37}]