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
ENST00000455432 [[122494678, 122494761], [122514815, 122514909], [122516285, 122516382], [122518984, 122519100], [122520580, 122520660], [122522709, 122522794]] [[122494678, 122494761], [122514815, 122514909], [122516285, 122516382], [122518984, 122519100], [122520580, 122520660], [122522709, 122522794]]
ENST00000389682 [[122513108, 122513421], [122514815, 122514909], [122516285, 122516382], [122518984, 122519100], [122520580, 122520660], [122522709, 122525429]] [[122513355, 122513421], [122514815, 122514909], [122516285, 122516382], [122518984, 122519100], [122520580, 122520660], [122522709, 122522943]]
ENST00000467324 [[122513234, 122513529], [122514815, 122514909], [122516285, 122516382], [122518984, 122519100], [122520580, 122520660], [122522709, 122524870]] None
ENST00000483698 [[122513235, 122513421], [122514815, 122515184]] None
ENST00000490717 [[122513235, 122513529], [122516285, 122516382], [122518984, 122519100], [122520580, 122520633]] None
ENST00000478165 [[122513235, 122513529], [122518984, 122519100], [122520580, 122520660], [122522709, 122522797]] None
ENST00000498545 [[122513235, 122513421], [122520580, 122520660], [122522709, 122523561]] None
ENST00000490104 [[122513238, 122513421], [122514815, 122515010], [122516285, 122516382], [122518984, 122519100], [122520580, 122520660], [122522709, 122524755]] None
ENST00000536142 [[122513256, 122513421], [122514815, 122514909], [122516285, 122516382], [122518984, 122519100], [122522709, 122523325]] [[122513355, 122513421], [122514815, 122514909], [122516285, 122516382], [122518984, 122519100], [122522709, 122522783]]
ENST00000495112 [[122513260, 122513421], [122516285, 122516382], [122518984, 122519100], [122520580, 122520660], [122522709, 122522860]] None
ENST00000481818 [[122513278, 122513529], [122514815, 122514985]] None
ENST00000409193 [[122513746, 122514267], [122514815, 122514909], [122516285, 122516382], [122518984, 122519100], [122520580, 122520660], [122522709, 122523237]] [[122514216, 122514267], [122514815, 122514909], [122516285, 122516382], [122518984, 122519100], [122520580, 122520660], [122522709, 122522943]]
NR_048558 [[122513120, 122513421], [122520580, 122520660], [122522709, 122525429]] None
NR_048557 [[122513120, 122513421], [122518984, 122519100], [122520580, 122520660], [122522709, 122525429]] None
NR_048556 [[122513120, 122513421], [122516285, 122516382], [122518984, 122519100], [122520580, 122520660], [122522709, 122525429]] None
NM_001261401 [[122513120, 122513421], [122514815, 122514909], [122516285, 122516382], [122518984, 122519100], [122522709, 122525429]] [[122513355, 122513421], [122514815, 122514909], [122516285, 122516382], [122518984, 122519100], [122522709, 122522783]]
NM_004622 [[122513120, 122513421], [122514815, 122514909], [122516285, 122516382], [122518984, 122519100], [122520580, 122520660], [122522709, 122525429]] [[122513355, 122513421], [122514815, 122514909], [122516285, 122516382], [122518984, 122519100], [122520580, 122520660], [122522709, 122522943]]
NR_048559 [[122513120, 122513529], [122518984, 122519100], [122520580, 122520660], [122522709, 122525429]] None
Promoter
Chrom Start End Description
chr2 122494676 122494689 CAGE_peak_3_at_TSN_5end
chr2 122513208 122513293 CAGE_peak_1_at_TSN_5end
chr2 122513295 122513344 CAGE_peak_2_at_TSN_5end
chr2 122514086 122514090 CAGE_peak_5_at_TSN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I121476 121476126 121477180 0.83 [{'connected_gene': 'TSN', 'score': 10.46}, {'connected_gene': 'NIFK', 'score': 10.46}, {'connected_gene': 'ENSG00000265451', 'score': 0.23}, {'connected_gene': 'GC02M121346', 'score': 0.19}, {'connected_gene': 'CLASP1', 'score': 0.09}]
chr2 GH02I121399 121399837 121400722 0.31 [{'connected_gene': 'TSN', 'score': 10.78}, {'connected_gene': 'NIFK', 'score': 10.78}, {'connected_gene': 'LINC01823', 'score': 6.94}, {'connected_gene': 'GC02M121346', 'score': 0.77}, {'connected_gene': 'GC02M121365', 'score': 0.29}, {'connected_gene': 'CLASP1', 'score': 0.07}]
chr2 GH02I121735 121735142 121739069 2 [{'connected_gene': 'TSN', 'score': 550.77}, {'connected_gene': 'NIFK', 'score': 550.77}, {'connected_gene': 'LINC01823', 'score': 9.71}, {'connected_gene': 'ENSG00000270798', 'score': 0.44}]
chr2 GH02I121626 121626497 121627800 1 [{'connected_gene': 'TSN', 'score': 13.66}, {'connected_gene': 'LINC01823', 'score': 6.33}, {'connected_gene': 'GC02M121605', 'score': 0.34}, {'connected_gene': 'CLASP1', 'score': 0.34}]
chr2 GH02I121754 121754542 121757199 2.08 [{'connected_gene': 'TSN', 'score': 550.37}, {'connected_gene': 'ENSG00000270798', 'score': 0.44}, {'connected_gene': 'GC02M121766', 'score': 0.39}]
chr2 GH02I121706 121706734 121709234 1.02 [{'connected_gene': 'NPM1P32', 'score': 550.77}, {'connected_gene': 'TSN', 'score': 11.81}, {'connected_gene': 'NIFK', 'score': 11.81}, {'connected_gene': 'ENSG00000279721', 'score': 0.37}, {'connected_gene': 'NIFK-AS1', 'score': 0.22}]
chr2 GH02I121710 121710202 121710315 0.22 [{'connected_gene': 'NPM1P32', 'score': 550.77}, {'connected_gene': 'TSN', 'score': 11.81}, {'connected_gene': 'NIFK', 'score': 11.81}, {'connected_gene': 'NIFK-AS1', 'score': 0.21}]
chr2 GH02I120785 120785111 120789067 0.84 [{'connected_gene': 'GLI2', 'score': 11.52}, {'connected_gene': 'TSN', 'score': 10.73}, {'connected_gene': 'GC02P120736', 'score': 0.23}, {'connected_gene': 'PIR37537', 'score': 0.21}]
chr2 GH02I120843 120843109 120843399 0.38 [{'connected_gene': 'GLI2', 'score': 10.8}, {'connected_gene': 'TSN', 'score': 9.69}, {'connected_gene': 'PIR37537', 'score': 0.44}, {'connected_gene': 'GC02P120736', 'score': 0.14}]
chr2 GH02I121524 121524431 121533647 2.04 [{'connected_gene': 'ENSG00000265451', 'score': 550.77}, {'connected_gene': 'RNU4ATAC', 'score': 550.77}, {'connected_gene': 'GC02P121532', 'score': 550.77}, {'connected_gene': 'TSN', 'score': 10.56}, {'connected_gene': 'NIFK', 'score': 10.56}, {'connected_gene': 'LINC01823', 'score': 6.23}, {'connected_gene': 'CLASP1', 'score': 4.79}, {'connected_gene': 'GC02M121346', 'score': 0.13}]