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
ENST00000246662 [[39722095, 39722404], [39723484, 39724002], [39724413, 39724637], [39724759, 39724885], [39725677, 39725839], [39726110, 39726267], [39726389, 39726472], [39727602, 39728310]] [[39723524, 39724002], [39724413, 39724637], [39724759, 39724885], [39725677, 39725839], [39726110, 39726267], [39726389, 39726472], [39727602, 39728244]]
ENST00000588431 [[39722355, 39722404], [39723484, 39724002], [39724413, 39724637], [39724759, 39724885], [39725677, 39725839], [39726110, 39726267], [39726389, 39726472], [39727602, 39727734], [39728263, 39728305]] [[39723524, 39724002], [39724413, 39724637], [39724759, 39724885], [39725677, 39725839], [39726110, 39726267], [39726389, 39726415]]
NM_000226 [[39722092, 39722404], [39723484, 39724002], [39724413, 39724637], [39724759, 39724885], [39725677, 39725839], [39726110, 39726267], [39726389, 39726472], [39727602, 39728310]] [[39723524, 39724002], [39724413, 39724637], [39724759, 39724885], [39725677, 39725839], [39726110, 39726267], [39726389, 39726472], [39727602, 39728244]]
Promoter
Chrom Start End Description
chr17 39728303 39728318 CAGE_peak_1_at_KRT9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I041620 41620949 41627446 1.63 [{'connected_gene': 'KRT17', 'score': 554.56}, {'connected_gene': 'GC17M041622', 'score': 550.77}, {'connected_gene': 'GC17M041625', 'score': 550.77}, {'connected_gene': 'KRT9', 'score': 16.59}, {'connected_gene': 'KRT15', 'score': 13.38}, {'connected_gene': 'KRT14', 'score': 12.71}, {'connected_gene': 'KRT19', 'score': 12.27}, {'connected_gene': 'KRT40', 'score': 9.78}, {'connected_gene': 'ENSG00000234477', 'score': 9.37}, {'connected_gene': 'KRT37', 'score': 9.35}, {'connected_gene': 'KRT16', 'score': 7.62}, {'connected_gene': 'KRT36', 'score': 5.04}, {'connected_gene': 'JUP', 'score': 4.69}, {'connected_gene': 'CNP', 'score': 4.3}, {'connected_gene': 'RAB5C', 'score': 3.96}, {'connected_gene': 'KRT13', 'score': 1.59}, {'connected_gene': 'KRT42P', 'score': 0.37}]
chr17 GH17I041559 41559135 41560125 0.68 [{'connected_gene': 'KRT16', 'score': 7.98}, {'connected_gene': 'GC17M041544', 'score': 0.77}, {'connected_gene': 'KRT9', 'score': 0.39}]
chr17 GH17I041578 41578874 41589513 1.95 [{'connected_gene': 'KRT14', 'score': 555.67}, {'connected_gene': 'KRT16', 'score': 13.02}, {'connected_gene': 'JUP', 'score': 6.56}, {'connected_gene': 'KRT36', 'score': 6.06}, {'connected_gene': 'KRT9', 'score': 5.75}, {'connected_gene': 'KRT15', 'score': 4.76}, {'connected_gene': 'KRT17', 'score': 4.11}, {'connected_gene': 'KRT13', 'score': 4.01}, {'connected_gene': 'KRT19', 'score': 2.88}]
chr17 GH17I041631 41631018 41632265 0.43 [{'connected_gene': 'KRT14', 'score': 11.26}, {'connected_gene': 'KRT9', 'score': 11.18}, {'connected_gene': 'KRT40', 'score': 9.78}, {'connected_gene': 'KRT37', 'score': 9.41}, {'connected_gene': 'KRT17', 'score': 0.44}, {'connected_gene': 'KRT42P', 'score': 0.44}]
chr17 GH17I041629 41629992 41630826 0.59 [{'connected_gene': 'KRT14', 'score': 11.26}, {'connected_gene': 'KRT9', 'score': 11.18}, {'connected_gene': 'KRT40', 'score': 9.78}, {'connected_gene': 'KRT37', 'score': 9.09}, {'connected_gene': 'KRT17', 'score': 0.44}, {'connected_gene': 'KRT42P', 'score': 0.44}]
chr17 GH17I041506 41506481 41506658 1.09 [{'connected_gene': 'KRT13', 'score': 552.43}, {'connected_gene': 'KRT9', 'score': 10.18}, {'connected_gene': 'KRT36', 'score': 5.63}, {'connected_gene': 'KRTAP3-1', 'score': 5.13}, {'connected_gene': 'JUP', 'score': 3.25}, {'connected_gene': 'KRT19', 'score': 2.72}, {'connected_gene': 'MIR6510', 'score': 0.39}]
chr17 GH17I041572 41572049 41572108 0.76 [{'connected_gene': 'KRT9', 'score': 550.77}, {'connected_gene': 'KRT16', 'score': 6.03}, {'connected_gene': 'KRT14', 'score': 0.39}]
chr17 GH17I041791 41791636 41796772 1.7 [{'connected_gene': 'JUP', 'score': 93.77}, {'connected_gene': 'NT5C3B', 'score': 14.29}, {'connected_gene': 'KLHL11', 'score': 11.21}, {'connected_gene': 'KRT15', 'score': 6.89}, {'connected_gene': 'ENSG00000267632', 'score': 5.1}, {'connected_gene': 'TUBG2', 'score': 4.53}, {'connected_gene': 'ACLY', 'score': 4.32}, {'connected_gene': 'KRT19', 'score': 3.99}, {'connected_gene': 'KRT16', 'score': 3.84}, {'connected_gene': 'KRT17', 'score': 3.45}, {'connected_gene': 'KRT9', 'score': 2.29}, {'connected_gene': 'KRT14', 'score': 1.77}, {'connected_gene': 'KRT36', 'score': 1.34}, {'connected_gene': 'PIR32942', 'score': 0.44}, {'connected_gene': 'PIR33798', 'score': 0.37}]
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 GH17I041649 41649756 41659535 1.64 [{'connected_gene': 'ENSG00000267758', 'score': 25.24}, {'connected_gene': 'JUP', 'score': 20.78}, {'connected_gene': 'HSD17B1', 'score': 20.59}, {'connected_gene': 'DHX58', 'score': 19.59}, {'connected_gene': 'GHDC', 'score': 19.26}, {'connected_gene': 'ENSG00000259623', 'score': 16.31}, {'connected_gene': 'KRT14', 'score': 16.17}, {'connected_gene': 'CNP', 'score': 13.3}, {'connected_gene': 'PSMC3IP', 'score': 13.05}, {'connected_gene': 'RETREG3', 'score': 12.93}, {'connected_gene': 'KRT37', 'score': 11.39}, {'connected_gene': 'HSD17B1P1', 'score': 11.02}, {'connected_gene': 'NT5C3B', 'score': 10.96}, {'connected_gene': 'STAT5A', 'score': 10.55}, {'connected_gene': 'COASY', 'score': 10.46}, {'connected_gene': 'NAGLU', 'score': 10.16}, {'connected_gene': 'KAT2A', 'score': 9.79}, {'connected_gene': 'ENSG00000236194', 'score': 6.49}, {'connected_gene': 'KRT17', 'score': 6.03}, {'connected_gene': 'KRT16', 'score': 5.84}, {'connected_gene': 'HAP1', 'score': 5.52}, {'connected_gene': 'KRT42P', 'score': 5.49}, {'connected_gene': 'C17orf113', 'score': 5.42}, {'connected_gene': 'KRT19', 'score': 4.84}, {'connected_gene': 'KRT15', 'score': 2.41}, {'connected_gene': 'KRT9', 'score': 2.02}, {'connected_gene': 'KRT36', 'score': 1.7}, {'connected_gene': 'ENSG00000278954', 'score': 0.39}]