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
ENST00000368722 [[153430219, 153430446], [153431348, 153431506], [153432293, 153432350]] [[153430281, 153430446], [153431348, 153431489]]
ENST00000368723 [[153430219, 153430446], [153431348, 153431506], [153433083, 153433177]] [[153430281, 153430446], [153431348, 153431489]]
NM_002963 [[153430219, 153430446], [153431348, 153431506], [153433083, 153433137]] [[153430281, 153430446], [153431348, 153431489]]
Promoter
Chrom Start End Description
chr1 153430341 153430348 CAGE_peak_6_at_S100A7_5end
chr1 153430422 153430443 CAGE_peak_3_at_S100A7_5end
chr1 153431372 153431378 CAGE_peak_4_at_S100A7_5end
chr1 153433120 153433129 CAGE_peak_1_at_S100A7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I153460 153460639 153460698 0.5 [{'connected_gene': 'S100A7', 'score': 550.77}, {'connected_gene': 'S100A7P2', 'score': 0.37}]
chr1 GH01I153489 153489797 153491857 1.31 [{'connected_gene': 'PGLYRP4', 'score': 11.21}, {'connected_gene': 'S100A9', 'score': 10.8}, {'connected_gene': 'RNU6-160P', 'score': 10.26}, {'connected_gene': 'S100A1', 'score': 10.14}, {'connected_gene': 'CHTOP', 'score': 10.13}, {'connected_gene': 'S100A13', 'score': 10.13}, {'connected_gene': 'PGLYRP3', 'score': 9.78}, {'connected_gene': 'RN7SL44P', 'score': 7.32}, {'connected_gene': 'S100A3', 'score': 6.01}, {'connected_gene': 'GC01M153500', 'score': 0.44}, {'connected_gene': 'S100A7', 'score': 0.29}]
chr1 GH01I153465 153465425 153466744 0.71 [{'connected_gene': 'PGLYRP4', 'score': 10.49}, {'connected_gene': 'RNU6-160P', 'score': 9.78}, {'connected_gene': 'S100A3', 'score': 5.75}, {'connected_gene': 'S100A7', 'score': 0.44}, {'connected_gene': 'GC01M153500', 'score': 0.29}, {'connected_gene': 'RN7SL44P', 'score': 0.29}]
chr1 GH01I153492 153492583 153494659 0.43 [{'connected_gene': 'RN7SL44P', 'score': 12.87}, {'connected_gene': 'ENSG00000238279', 'score': 11.66}, {'connected_gene': 'S100A6', 'score': 11.64}, {'connected_gene': 'S100A5', 'score': 11.63}, {'connected_gene': 'S100A3', 'score': 11.6}, {'connected_gene': 'S100A4', 'score': 11.6}, {'connected_gene': 'PGLYRP4', 'score': 11.21}, {'connected_gene': 'S100A9', 'score': 10.8}, {'connected_gene': 'RNU6-160P', 'score': 10.35}, {'connected_gene': 'S100A1', 'score': 10.13}, {'connected_gene': 'S100A13', 'score': 10.13}, {'connected_gene': 'CHTOP', 'score': 10.13}, {'connected_gene': 'PGLYRP3', 'score': 9.78}, {'connected_gene': 'S100A16', 'score': 9.71}, {'connected_gene': 'S100A14', 'score': 9.71}, {'connected_gene': 'GC01M153500', 'score': 0.44}, {'connected_gene': 'S100A7', 'score': 0.29}]
chr1 GH01I153494 153494985 153495154 0.84 [{'connected_gene': 'ENSG00000238279', 'score': 11.66}, {'connected_gene': 'S100A6', 'score': 11.64}, {'connected_gene': 'S100A5', 'score': 11.63}, {'connected_gene': 'S100A3', 'score': 11.61}, {'connected_gene': 'S100A4', 'score': 11.6}, {'connected_gene': 'PGLYRP4', 'score': 11.19}, {'connected_gene': 'S100A9', 'score': 10.37}, {'connected_gene': 'RNU6-160P', 'score': 10.35}, {'connected_gene': 'S100A16', 'score': 9.71}, {'connected_gene': 'S100A14', 'score': 9.71}, {'connected_gene': 'GC01M153500', 'score': 0.44}, {'connected_gene': 'RN7SL44P', 'score': 0.44}, {'connected_gene': 'S100A7', 'score': 0.29}]