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
ENST00000394015 [[39221368, 39222131]] [[39221710, 39222097]]
NM_033184 [[39221367, 39222131]] [[39221710, 39222097]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I041338 41338033 41343989 0.96 [{'connected_gene': 'KRT38', 'score': 20.57}, {'connected_gene': 'KRTAP16-1', 'score': 10.63}, {'connected_gene': 'KRTAP29-1', 'score': 10.61}, {'connected_gene': 'KRT31', 'score': 10.3}, {'connected_gene': 'LOC100505782', 'score': 10.28}, {'connected_gene': 'KRTAP17-1', 'score': 10.24}, {'connected_gene': 'KRTAP9-6', 'score': 10.09}, {'connected_gene': 'KRT37', 'score': 10.04}, {'connected_gene': 'ENSG00000234477', 'score': 9.95}, {'connected_gene': 'KRT32', 'score': 9.84}, {'connected_gene': 'RNU2-32P', 'score': 9.84}, {'connected_gene': 'KRTAP1-1', 'score': 9.82}, {'connected_gene': 'KRTAP1-3', 'score': 9.82}, {'connected_gene': 'KRTAP1-4', 'score': 9.81}, {'connected_gene': 'KRT40', 'score': 9.42}, {'connected_gene': 'KRT20', 'score': 9.39}, {'connected_gene': 'KRTAP2-5P', 'score': 9.36}, {'connected_gene': 'KRTAP2-4', 'score': 9.36}, {'connected_gene': 'KRT23', 'score': 8.62}, {'connected_gene': 'KRT36', 'score': 6.02}, {'connected_gene': 'ENSG00000108516', 'score': 0.44}, {'connected_gene': 'KRT33A', 'score': 0.44}]
chr17 GH17I041065 41065601 41065800 0.2 [{'connected_gene': 'KRTAP2-4', 'score': 550.77}, {'connected_gene': 'KRTAP2-3', 'score': 0.44}, {'connected_gene': 'GC17M041060', 'score': 0.39}]
chr17 GH17I041066 41065816 41067666 1.35 [{'connected_gene': 'KRTAP2-4', 'score': 550.77}, {'connected_gene': 'KRTAP4-8', 'score': 7.98}, {'connected_gene': 'KRTAP4-6', 'score': 7.63}, {'connected_gene': 'GC17M041060', 'score': 0.44}, {'connected_gene': 'KRTAP2-5P', 'score': 0.44}]
chr17 GH17I041352 41352992 41353325 0.66 [{'connected_gene': 'KRTAP2-1', 'score': 12.89}, {'connected_gene': 'KRTAP9-1', 'score': 9.33}, {'connected_gene': 'KRTAP2-2', 'score': 9.26}, {'connected_gene': 'KRTAP9-2', 'score': 8.89}, {'connected_gene': 'KRTAP9-9', 'score': 8.32}, {'connected_gene': 'KRT37', 'score': 4.16}, {'connected_gene': 'KRT40', 'score': 2.89}, {'connected_gene': 'KRTAP2-4', 'score': 1.96}, {'connected_gene': 'KRT35', 'score': 1.57}, {'connected_gene': 'KRT38', 'score': 1.52}, {'connected_gene': 'KRT33A', 'score': 0.77}, {'connected_gene': 'KRT33B', 'score': 0.37}]
chr17 GH17I041058 41058207 41063886 1.75 [{'connected_gene': 'KRTAP2-3', 'score': 555.41}, {'connected_gene': 'KRTAP1-3', 'score': 11.81}, {'connected_gene': 'KRTAP1-4', 'score': 11.79}, {'connected_gene': 'KRTAP1-5', 'score': 11.08}, {'connected_gene': 'KRT38', 'score': 4.76}, {'connected_gene': 'KRT27', 'score': 4.31}, {'connected_gene': 'KRTAP2-4', 'score': 0.77}, {'connected_gene': 'GC17M041060', 'score': 0.39}]
chr17 GH17I041557 41557145 41557543 0.22 [{'connected_gene': 'GC17M041544', 'score': 550.77}, {'connected_gene': 'KRTAP9-2', 'score': 21.61}, {'connected_gene': 'KRTAP9-1', 'score': 12.68}, {'connected_gene': 'KRTAP9-9', 'score': 11.79}, {'connected_gene': 'KRT16', 'score': 7.03}, {'connected_gene': 'KRT37', 'score': 4.05}, {'connected_gene': 'KRTAP2-4', 'score': 2.3}, {'connected_gene': 'KRT38', 'score': 2.26}, {'connected_gene': 'KRT35', 'score': 1.97}, {'connected_gene': 'KRT9', 'score': 0.39}]
chr17 GH17I041499 41499613 41500932 1.52 [{'connected_gene': 'ENSG00000229732', 'score': 550.77}, {'connected_gene': 'KRTAP2-1', 'score': 7.15}, {'connected_gene': 'KRTAP9-2', 'score': 5.39}, {'connected_gene': 'KRT38', 'score': 5.38}, {'connected_gene': 'KRTAP2-2', 'score': 5.25}, {'connected_gene': 'KRTAP9-1', 'score': 5.17}, {'connected_gene': 'KRTAP9-9', 'score': 4.78}, {'connected_gene': 'KRT34', 'score': 4.16}, {'connected_gene': 'KRT37', 'score': 2.64}, {'connected_gene': 'KRTAP2-4', 'score': 1.58}, {'connected_gene': 'KRT36', 'score': 0.44}]
chr17 GH17I041336 41336169 41336318 0.31 [{'connected_gene': 'ENSG00000108516', 'score': 550.77}, {'connected_gene': 'KRTAP29-1', 'score': 10.48}, {'connected_gene': 'KRTAP16-1', 'score': 10.37}, {'connected_gene': 'KRTAP17-1', 'score': 10.27}, {'connected_gene': 'KRTAP9-6', 'score': 10.1}, {'connected_gene': 'KRT31', 'score': 10.04}, {'connected_gene': 'KRT37', 'score': 10.03}, {'connected_gene': 'LOC100505782', 'score': 10.03}, {'connected_gene': 'ENSG00000234477', 'score': 9.95}, {'connected_gene': 'KRT32', 'score': 9.83}, {'connected_gene': 'RNU2-32P', 'score': 9.83}, {'connected_gene': 'KRTAP1-1', 'score': 9.82}, {'connected_gene': 'KRTAP1-4', 'score': 9.82}, {'connected_gene': 'KRTAP1-3', 'score': 9.81}, {'connected_gene': 'KRT40', 'score': 9.42}, {'connected_gene': 'KRTAP2-5P', 'score': 9.37}, {'connected_gene': 'KRTAP2-4', 'score': 9.36}, {'connected_gene': 'KRT33A', 'score': 0.39}]