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
ENST00000376832 [[51503805, 51503839], [51504353, 51504431], [51505663, 51506516], [51506959, 51507096], [51509713, 51509979], [51512438, 51512595], [51512760, 51512837]] [[51506366, 51506516], [51506959, 51507096], [51509713, 51509979], [51512438, 51512595], [51512760, 51512803]]
ENST00000594211 [[51506366, 51506516], [51506959, 51507096], [51509713, 51509979], [51512438, 51512595], [51512760, 51512804]] [[51506366, 51506516], [51506959, 51507096], [51509713, 51509979], [51512438, 51512595]]
ENST00000544410 [[51506366, 51506516], [51506959, 51507096], [51509713, 51509979], [51512760, 51512890]] [[51509836, 51509979], [51512760, 51512803]]
NM_012315 [[51505768, 51506516], [51506959, 51507096], [51509713, 51509979], [51512438, 51512595], [51512760, 51512890]] [[51506366, 51506516], [51506959, 51507096], [51509713, 51509979], [51512438, 51512595], [51512760, 51512803]]
Promoter
Chrom Start End Description
chr19 51512819 51512836 CAGE_peak_1_at_KLK9_5end
chr19 51512842 51512867 CAGE_peak_2_at_KLK9_5end
chr19 51512869 51512885 CAGE_peak_3_at_KLK9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I050999 50999723 51003350 1.52 [{'connected_gene': 'KLK8', 'score': 560.66}, {'connected_gene': 'KLK10', 'score': 6.69}, {'connected_gene': 'ENSG00000269741', 'score': 0.44}, {'connected_gene': 'KLK9', 'score': 0.44}, {'connected_gene': 'KLK7', 'score': 0.37}, {'connected_gene': 'ENSG00000267879', 'score': 0.29}]
chr19 GH19I051009 51009308 51011128 0.93 [{'connected_gene': 'ENSG00000269741', 'score': 550.77}, {'connected_gene': 'KLK9', 'score': 550.77}, {'connected_gene': 'ENSG00000268739', 'score': 0.77}, {'connected_gene': 'ENSG00000267879', 'score': 0.26}]

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