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
ENST00000366623 [[233463513, 233464579], [233482187, 233482368], [233489552, 233489701], [233490581, 233490757], [233497798, 233498039], [233507783, 233509880]] [[233463774, 233464579], [233482187, 233482368], [233489552, 233489701], [233490581, 233490757], [233497798, 233498039], [233507783, 233507944]]
ENST00000366624 [[233463513, 233464579], [233482187, 233482368], [233489552, 233489701], [233490581, 233490757], [233497798, 233498039], [233507783, 233507906], [233511661, 233511812], [233512175, 233512273], [233514676, 233515456], [233518050, 233520894]] [[233463774, 233464579], [233482187, 233482368], [233489552, 233489701], [233490581, 233490757], [233497798, 233498039], [233507783, 233507906], [233511661, 233511812], [233512175, 233512273], [233514676, 233515456], [233518050, 233518457]]
ENST00000366622 [[233511528, 233511812], [233512175, 233512273], [233514676, 233515456], [233518050, 233520893]] [[233511648, 233511812], [233512175, 233512273], [233514676, 233515456], [233518050, 233518457]]
NM_032435 [[233463513, 233464579], [233482187, 233482368], [233489552, 233489701], [233490581, 233490757], [233497798, 233498039], [233507783, 233507906], [233511661, 233511812], [233512175, 233512273], [233514676, 233515456], [233518050, 233520894]] [[233463774, 233464579], [233482187, 233482368], [233489552, 233489701], [233490581, 233490757], [233497798, 233498039], [233507783, 233507906], [233511661, 233511812], [233512175, 233512273], [233514676, 233515456], [233518050, 233518457]]
Promoter
Chrom Start End Description
chr1 233463463 233463494 CAGE_peak_1_at_KIAA1804_5end
chr1 233463507 233463520 CAGE_peak_2_at_KIAA1804_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I232459 232459545 232460390 0.2 [{'connected_gene': 'MAP3K21', 'score': 4.78}, {'connected_gene': 'PIR51388', 'score': 0.25}, {'connected_gene': 'GC01P232625', 'score': 0.1}, {'connected_gene': 'SIPA1L2', 'score': 0.09}]
chr1 GH01I233366 233366775 233368904 0.69 [{'connected_gene': 'MAP3K21', 'score': 22.15}, {'connected_gene': 'GC01M233432', 'score': 0.21}]
chr1 GH01I233359 233359408 233359824 0.71 [{'connected_gene': 'MAP3K21', 'score': 13.29}, {'connected_gene': 'GC01M233432', 'score': 0.19}]
chr1 GH01I233326 233326734 233329588 1.94 [{'connected_gene': 'MAP3K21', 'score': 586.05}, {'connected_gene': 'GC01M233432', 'score': 0.15}]
chr1 GH01I233329 233329801 233330400 0.56 [{'connected_gene': 'MAP3K21', 'score': 40.94}, {'connected_gene': 'GC01M233432', 'score': 0.15}]
chr1 GH01I233288 233288473 233296344 2.16 [{'connected_gene': 'PCNX2', 'score': 560.63}, {'connected_gene': 'MAP3K21', 'score': 12.54}, {'connected_gene': 'NTPCR', 'score': 9.88}, {'connected_gene': 'RPS7P3', 'score': 6.47}, {'connected_gene': 'ENSG00000251508', 'score': 0.77}]