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
ENST00000373032 [[74694927, 74695496], [74700926, 74701092], [74702409, 74702498], [74714232, 74714536]] [[74695374, 74695496], [74700926, 74701092], [74702409, 74702498], [74714232, 74714443]]
NM_032562 [[74694519, 74695496], [74700926, 74701092], [74702409, 74702498], [74714232, 74714577]] [[74695374, 74695496], [74700926, 74701092], [74702409, 74702498], [74714232, 74714443]]
NM_001318124 [[74694519, 74695493], [74700926, 74701092], [74702409, 74702498], [74714232, 74714577]] [[74695374, 74695493], [74700926, 74701092], [74702409, 74702498], [74714232, 74714443]]
NM_001318125 [[74694519, 74695496], [74700926, 74701092], [74714232, 74714577]] [[74695374, 74695496], [74700926, 74701092], [74714232, 74714262]]
Promoter
Chrom Start End Description
chr10 74714458 74714477 CAGE_peak_3_at_PLA2G12B_5end
chr10 74714487 74714498 CAGE_peak_4_at_PLA2G12B_5end
chr10 74714533 74714580 CAGE_peak_1_at_PLA2G12B_5end
chr10 74714588 74714609 CAGE_peak_2_at_PLA2G12B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I072951 72951823 72956020 1.35 [{'connected_gene': 'PLA2G12B', 'score': 550.77}, {'connected_gene': 'CFAP70', 'score': 12.37}, {'connected_gene': 'NUDT13', 'score': 11.24}, {'connected_gene': 'OIT3', 'score': 10.39}, {'connected_gene': 'ECD', 'score': 5.57}, {'connected_gene': 'DNAJB12', 'score': 5.41}, {'connected_gene': 'DNAJC9-AS1', 'score': 3.69}, {'connected_gene': 'NPM1P24', 'score': 0.28}]
chr10 GH10I072941 72941843 72941992 0.31 [{'connected_gene': 'OIT3', 'score': 11.03}, {'connected_gene': 'ENSG00000237768', 'score': 9.83}, {'connected_gene': 'ENSG00000226163', 'score': 9.46}, {'connected_gene': 'PLA2G12B', 'score': 0.39}, {'connected_gene': 'NPM1P24', 'score': 0.34}]
chr10 GH10I072934 72934635 72936043 0.56 [{'connected_gene': 'OIT3', 'score': 11.18}, {'connected_gene': 'DNAJB12', 'score': 4.05}, {'connected_gene': 'NPM1P24', 'score': 0.37}, {'connected_gene': 'PLA2G12B', 'score': 0.37}]