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
ENST00000368732 [[153362507, 153362719], [153362870, 153363033], [153363332, 153363452]] [[153362578, 153362719], [153362870, 153363011]]
ENST00000368733 [[153362507, 153362719], [153362870, 153363033], [153363516, 153363664]] [[153362578, 153362719], [153362870, 153363011]]
ENST00000477801 [[153362679, 153362719], [153362870, 153363547]] None
NM_001319201 [[153362507, 153362719], [153362870, 153363033], [153363332, 153363452]] [[153362578, 153362719], [153362870, 153363011]]
NM_001319196 [[153362507, 153362719], [153362870, 153363050], [153363516, 153363664]] [[153362578, 153362719], [153362870, 153363050], [153363516, 153363549]]
NM_001319197 [[153362507, 153362719], [153362870, 153363047], [153363516, 153363664]] [[153362578, 153362719], [153362870, 153363047], [153363516, 153363549]]
NM_002964 [[153362507, 153362719], [153362870, 153363033], [153363516, 153363664]] [[153362578, 153362719], [153362870, 153363011]]
NM_001319198 [[153362507, 153362719], [153362870, 153363033], [153394993, 153395059]] [[153362578, 153362719], [153362870, 153363033], [153394993, 153394995]]
Promoter
Chrom Start End Description
chr1 153362896 153362903 CAGE_peak_5_at_S100A8_5end
chr1 153362906 153362947 CAGE_peak_3_at_S100A8_5end
chr1 153362968 153363033 CAGE_peak_2_at_S100A8_5end
chr1 153363539 153363557 CAGE_peak_1_at_S100A8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I153355 153355424 153362837 1.69 [{'connected_gene': 'S100A9', 'score': 550.77}, {'connected_gene': 'ENSG00000224784', 'score': 11.21}, {'connected_gene': 'S100A8', 'score': 11.15}, {'connected_gene': 'RNU6-160P', 'score': 10.51}, {'connected_gene': 'S100A14', 'score': 9.25}, {'connected_gene': 'S100A16', 'score': 9.25}, {'connected_gene': 'S100A12', 'score': 7.67}, {'connected_gene': 'PGLYRP4', 'score': 6.09}, {'connected_gene': 'LOC101928009', 'score': 4.19}]
chr1 GH01I153394 153394001 153394400 0.73 [{'connected_gene': 'S100A8', 'score': 16.0}, {'connected_gene': 'S100A12', 'score': 9.02}, {'connected_gene': 'S100A9', 'score': 4.83}, {'connected_gene': 'ENSG00000224784', 'score': 0.77}, {'connected_gene': 'LAPTM4BP1', 'score': 0.39}]
chr1 GH01I153384 153384801 153392600 1.67 [{'connected_gene': 'S100A8', 'score': 572.65}, {'connected_gene': 'S100A12', 'score': 25.34}, {'connected_gene': 'S100A9', 'score': 23.34}, {'connected_gene': 'PGLYRP4', 'score': 10.81}, {'connected_gene': 'RNU6-160P', 'score': 10.38}, {'connected_gene': 'S100A7L2', 'score': 1.64}, {'connected_gene': 'S100A4', 'score': 1.56}, {'connected_gene': 'LAPTM4BP1', 'score': 0.44}, {'connected_gene': 'ENSG00000224784', 'score': 0.44}]
chr1 GH01I153363 153363805 153368067 1.38 [{'connected_gene': 'S100A8', 'score': 24.73}, {'connected_gene': 'S100A12', 'score': 16.84}, {'connected_gene': 'ENSG00000224784', 'score': 11.72}, {'connected_gene': 'RNU6-160P', 'score': 10.5}, {'connected_gene': 'S100A9', 'score': 9.73}]
chr1 GH01I153552 153552973 153554763 1.07 [{'connected_gene': 'S100A3', 'score': 13.91}, {'connected_gene': 'CHTOP', 'score': 12.52}, {'connected_gene': 'S100A13', 'score': 12.35}, {'connected_gene': 'S100A16', 'score': 10.84}, {'connected_gene': 'S100A14', 'score': 10.83}, {'connected_gene': 'S100A1', 'score': 10.64}, {'connected_gene': 'INTS3', 'score': 10.05}, {'connected_gene': 'ENSG00000233222', 'score': 10.04}, {'connected_gene': 'ENSG00000243613', 'score': 10.04}, {'connected_gene': 'ILF2', 'score': 9.85}, {'connected_gene': 'S100A9', 'score': 8.74}, {'connected_gene': 'S100A12', 'score': 6.49}, {'connected_gene': 'S100A4', 'score': 3.78}, {'connected_gene': 'S100A8', 'score': 2.44}, {'connected_gene': 'S100A2', 'score': 0.39}]
chr1 GH01I153416 153416473 153416532 0.5 [{'connected_gene': 'S100A7A', 'score': 550.77}, {'connected_gene': 'S100A8', 'score': 0.44}, {'connected_gene': 'ENSG00000224784', 'score': 0.37}]
chr1 GH01I153404 153404825 153404894 0.74 [{'connected_gene': 'CHTOP', 'score': 5.53}, {'connected_gene': 'ENSG00000224784', 'score': 0.44}, {'connected_gene': 'S100A7A', 'score': 0.39}, {'connected_gene': 'S100A8', 'score': 0.37}]