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
ENST00000456315 [[68939834, 68942752], [68943469, 68943655], [68944826, 68945003], [68947122, 68947295], [68947728, 68948580], [68949632, 68949773], [68952619, 68952667], [68954056, 68954187], [68954598, 68954717], [68955134, 68955291], [68960112, 68960378], [68962634, 68962797]] [[68942614, 68942752], [68943469, 68943655], [68944826, 68945003], [68947122, 68947295], [68947728, 68948580], [68949632, 68949773], [68952619, 68952667], [68954056, 68954187], [68954598, 68954717], [68955134, 68955291], [68960112, 68960378], [68962634, 68962682]]
ENST00000370966 [[68939834, 68942752], [68943469, 68943655], [68944826, 68945003], [68947122, 68947295], [68949632, 68949773], [68952619, 68952667], [68954056, 68954187], [68954598, 68954717], [68955134, 68955291], [68960112, 68960378], [68962634, 68962904]] [[68942614, 68942752], [68943469, 68943655], [68944826, 68945003], [68947122, 68947295], [68949632, 68949773], [68952619, 68952667], [68954056, 68954187], [68954598, 68954717], [68955134, 68955291], [68960112, 68960378], [68962634, 68962682]]
ENST00000488146 [[68941256, 68942752], [68943469, 68943655], [68944826, 68945003], [68947122, 68947921]] None
ENST00000489862 [[68942579, 68942752], [68943469, 68943655], [68944826, 68945003], [68947122, 68947295], [68948323, 68948580], [68948955, 68948988], [68949632, 68949773], [68952619, 68952667], [68954056, 68954187], [68954598, 68954717], [68955134, 68955168], [68955252, 68955291], [68960112, 68960214]] [[68947274, 68947295], [68948323, 68948580], [68948955, 68948988], [68949632, 68949773], [68952619, 68952667], [68954056, 68954187], [68954598, 68954717], [68955134, 68955168], [68955252, 68955291], [68960112, 68960214]]
ENST00000525124 [[68952623, 68952667], [68954056, 68954187], [68954598, 68954717], [68955134, 68955291], [68962634, 68962765]] [[68952623, 68952667], [68954056, 68954114]]
NM_001114120 [[68939834, 68942752], [68943469, 68943655], [68944826, 68945003], [68947122, 68947295], [68947728, 68948580], [68949632, 68949773], [68952619, 68952667], [68954056, 68954187], [68954598, 68954717], [68955134, 68955291], [68960112, 68960378], [68962634, 68962904]] [[68942614, 68942752], [68943469, 68943655], [68944826, 68945003], [68947122, 68947295], [68947728, 68948580], [68949632, 68949773], [68952619, 68952667], [68954056, 68954187], [68954598, 68954717], [68955134, 68955291], [68960112, 68960378], [68962634, 68962682]]
NM_017779 [[68939834, 68942752], [68943469, 68943655], [68944826, 68945003], [68947122, 68947295], [68949632, 68949773], [68952619, 68952667], [68954056, 68954187], [68954598, 68954717], [68955134, 68955291], [68960112, 68960378], [68962634, 68962904]] [[68942614, 68942752], [68943469, 68943655], [68944826, 68945003], [68947122, 68947295], [68949632, 68949773], [68952619, 68952667], [68954056, 68954187], [68954598, 68954717], [68955134, 68955291], [68960112, 68960378], [68962634, 68962682]]
Promoter
Chrom Start End Description
chr1 68962719 68962736 CAGE_peak_2_at_DEPDC1_5end
chr1 68962744 68962772 CAGE_peak_1_at_DEPDC1_5end
chr1 68962782 68962801 CAGE_peak_3_at_DEPDC1_5end
chr1 68962805 68962810 CAGE_peak_4_at_DEPDC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I068495 68495231 68497807 2.02 [{'connected_gene': 'DEPDC1-AS1', 'score': 550.77}, {'connected_gene': 'DEPDC1', 'score': 550.77}, {'connected_gene': 'ENSG00000233589', 'score': 0.37}]
chr1 GH01I068144 68144865 68146985 0.67 [{'connected_gene': 'MIR1262', 'score': 11.03}, {'connected_gene': 'GNG12-AS1', 'score': 8.71}, {'connected_gene': 'GNG12', 'score': 8.71}, {'connected_gene': 'DEPDC1', 'score': 5.14}, {'connected_gene': 'CTBP2P8', 'score': 0.37}, {'connected_gene': 'GC01M068050', 'score': 0.2}, {'connected_gene': 'WLS', 'score': 0.17}]
chr1 GH01I068479 68479803 68480099 0.35 [{'connected_gene': 'ENSG00000233589', 'score': 550.77}, {'connected_gene': 'DEPDC1-AS1', 'score': 0.37}, {'connected_gene': 'DEPDC1', 'score': 0.37}]