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
ENST00000228641 [[81101276, 81102017], [81102302, 81102393], [81102620, 81103253]] [[81101498, 81102017], [81102302, 81102393], [81102620, 81102739]]
NM_002469 [[81101407, 81102017], [81102302, 81102393], [81102620, 81103257]] [[81101498, 81102017], [81102302, 81102393], [81102620, 81102739]]
Promoter
Chrom Start End Description
chr12 81101312 81101321 CAGE_peak_6_at_MYF6_5end
chr12 81101404 81101421 CAGE_peak_1_at_MYF6_5end
chr12 81101442 81101449 CAGE_peak_3_at_MYF6_5end
chr12 81101462 81101467 CAGE_peak_4_at_MYF6_5end
chr12 81101472 81101483 CAGE_peak_2_at_MYF6_5end
chr12 81101723 81101726 CAGE_peak_10_at_MYF6_5end
chr12 81101753 81101762 CAGE_peak_5_at_MYF6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I080683 80683338 80684831 0.58 [{'connected_gene': 'MYF6', 'score': 11.99}, {'connected_gene': 'MYF5', 'score': 11.27}, {'connected_gene': 'GC12M080674', 'score': 0.44}, {'connected_gene': 'ENSG00000257429', 'score': 0.16}]
chr12 GH12I080706 80706299 80712301 1.74 [{'connected_gene': 'MYF6', 'score': 550.77}, {'connected_gene': 'GC12P080705', 'score': 0.77}, {'connected_gene': 'MYF5', 'score': 0.44}]
chr12 GH12I080712 80712834 80719174 1.36 [{'connected_gene': 'MYF5', 'score': 550.77}, {'connected_gene': 'ENSG00000258044', 'score': 4.02}, {'connected_gene': 'MYF6', 'score': 0.44}, {'connected_gene': 'GC12P080705', 'score': 0.39}]