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
ENST00000313339 [[38540565, 38541559], [38542308, 38543052], [38543235, 38543360], [38571118, 38571198], [38572002, 38572056], [38573080, 38573126], [38575472, 38575695], [38577049, 38577204]] [[38543249, 38543360], [38571118, 38571198], [38572002, 38572056], [38573080, 38573126], [38575472, 38575695], [38577049, 38577153]]
ENST00000607974 [[38543249, 38543360], [38543457, 38543493], [38571118, 38571198], [38572002, 38572056], [38573080, 38573126], [38575472, 38575695], [38577049, 38577153]] [[38543249, 38543360], [38543457, 38543493], [38571118, 38571198], [38572002, 38572056], [38573080, 38573126], [38575472, 38575695], [38577049, 38577153]]
ENST00000602295 [[38571354, 38573126], [38575472, 38575695], [38577049, 38577261], [38577863, 38578145], [38586179, 38586309], [38588547, 38588660], [38593756, 38593906], [38595482, 38595506]] [[38573054, 38573126], [38575472, 38575695], [38577049, 38577261], [38577863, 38578145], [38586179, 38586309], [38588547, 38588660], [38593756, 38593906], [38595482, 38595506]]
ENST00000399703 [[38571354, 38572056], [38575472, 38575695], [38577049, 38577261], [38577863, 38578145], [38586179, 38586309], [38588547, 38588660], [38593756, 38593906], [38595482, 38596400], [38601127, 38601201], [38603155, 38603209], [38607422, 38607490], [38610269, 38610407], [38611211, 38611318], [38615590, 38615764], [38615926, 38616041], [38620076, 38620657]] [[38572041, 38572056], [38575472, 38575695], [38577049, 38577261], [38577863, 38578145], [38586179, 38586309], [38588547, 38588660], [38593756, 38593906], [38595482, 38596400], [38601127, 38601201], [38603155, 38603209], [38607422, 38607490], [38610269, 38610407], [38611211, 38611318], [38615590, 38615764], [38615926, 38616041], [38620076, 38620282]]
ENST00000475234 [[38601165, 38601198], [38603155, 38603209], [38604149, 38604284], [38604859, 38604916]] None
NM_001331100 [[38571360, 38572056], [38575472, 38575695], [38577049, 38577261], [38577863, 38578145], [38586179, 38586309], [38588547, 38588660], [38593756, 38593906], [38595482, 38596400], [38601127, 38601198], [38603155, 38603209], [38604149, 38604284], [38604859, 38604913], [38607422, 38607490], [38610269, 38610407], [38611211, 38611318], [38615590, 38615764], [38615926, 38616041], [38620076, 38620657]] [[38572041, 38572056], [38575472, 38575695], [38577049, 38577261], [38577863, 38578145], [38586179, 38586309], [38588547, 38588660], [38593756, 38593906], [38595482, 38596400], [38601127, 38601198], [38603155, 38603209], [38604149, 38604284], [38604859, 38604913], [38607422, 38607490], [38610269, 38610407], [38611211, 38611318], [38615590, 38615764], [38615926, 38616041], [38620076, 38620282]]
NM_147195 [[38571360, 38572056], [38575472, 38575695], [38577049, 38577261], [38577863, 38578145], [38586179, 38586309], [38588547, 38588660], [38593756, 38593906], [38595482, 38596400], [38601127, 38601201], [38603155, 38603209], [38607422, 38607490], [38610269, 38610407], [38611211, 38611318], [38615590, 38615764], [38615926, 38616041], [38620076, 38620657]] [[38572041, 38572056], [38575472, 38575695], [38577049, 38577261], [38577863, 38578145], [38586179, 38586309], [38588547, 38588660], [38593756, 38593906], [38595482, 38596400], [38601127, 38601201], [38603155, 38603209], [38607422, 38607490], [38610269, 38610407], [38611211, 38611318], [38615590, 38615764], [38615926, 38616041], [38620076, 38620282]]
Promoter
Chrom Start End Description
chr9 38620530 38620617 CAGE_peak_1_at_ANKRD18A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I038478 38478728 38478772 0.33 [{'connected_gene': 'TCEA1P3', 'score': 550.77}, {'connected_gene': 'ANKRD18A', 'score': 1.79}, {'connected_gene': 'PIR43232', 'score': 0.77}, {'connected_gene': 'ENSG00000283162', 'score': 0.25}]
chr9 GH09I038619 38619629 38621601 1.99 [{'connected_gene': 'ANKRD18A', 'score': 562.86}, {'connected_gene': 'FAM201A', 'score': 558.52}, {'connected_gene': 'TRMT10B', 'score': 14.06}, {'connected_gene': 'EXOSC3', 'score': 10.64}]
chr9 GH09I038621 38621904 38622013 0.63 [{'connected_gene': 'ANKRD18A', 'score': 556.04}, {'connected_gene': 'FAM201A', 'score': 550.77}, {'connected_gene': 'GC09M038752', 'score': 0.34}]
chr9 GH09I038622 38622024 38622053 0.62 [{'connected_gene': 'FAM201A', 'score': 550.77}, {'connected_gene': 'ANKRD18A', 'score': 550.77}, {'connected_gene': 'GC09M038752', 'score': 0.34}]
chr9 GH09I038642 38642064 38642213 0.66 [{'connected_gene': 'GC09M038752', 'score': 550.77}, {'connected_gene': 'YWHABP1', 'score': 550.77}, {'connected_gene': 'RNU6-765P', 'score': 12.08}, {'connected_gene': 'ANKRD18A', 'score': 11.58}]
chr9 GH09I038565 38565703 38566538 0.43 [{'connected_gene': 'PIR41410', 'score': 550.77}, {'connected_gene': 'PIR37621', 'score': 550.77}, {'connected_gene': 'PIR43356', 'score': 550.77}, {'connected_gene': 'ENSG00000272904', 'score': 0.77}, {'connected_gene': 'SNX18P3', 'score': 0.77}, {'connected_gene': 'FAM95C', 'score': 0.39}, {'connected_gene': 'PIR40601', 'score': 0.37}, {'connected_gene': 'ANKRD18A', 'score': 0.23}]
chr9 GH09I038545 38545921 38547253 0.38 [{'connected_gene': 'PIR62891', 'score': 550.77}, {'connected_gene': 'PIR47878', 'score': 550.77}, {'connected_gene': 'ENSG00000272904', 'score': 0.34}, {'connected_gene': 'FAM95C', 'score': 0.29}, {'connected_gene': 'ANKRD18A', 'score': 0.19}]