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
ENST00000465508 [[6694227, 6695760], [6696176, 6696306], [6697257, 6697400], [6697506, 6698424], [6699961, 6700117], [6704617, 6704734], [6705100, 6705117]] None
ENST00000349363 [[6694227, 6694844], [6705930, 6706038], [6711588, 6711662], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6738453, 6738527], [6740967, 6741097]] [[6694585, 6694844], [6705930, 6706038], [6711588, 6711662], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6738453, 6738527], [6740967, 6741055]]
ENST00000451196 [[6694227, 6694844], [6705930, 6706038], [6711588, 6711662], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6738453, 6738527], [6740967, 6741097]] [[6694585, 6694844], [6705930, 6706038], [6711588, 6711662], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6738453, 6738527], [6740967, 6741097]]
ENST00000377577 [[6694227, 6695760], [6696176, 6696306], [6697257, 6697400], [6697506, 6697564], [6698354, 6698424], [6699961, 6700117], [6704617, 6704734], [6705100, 6705186], [6705848, 6706038], [6711588, 6711662], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6738453, 6738527], [6740967, 6741097], [6761788, 6761984]] [[6695734, 6695760], [6696176, 6696306], [6697257, 6697400], [6697506, 6697564], [6698354, 6698424], [6699961, 6700117], [6704617, 6704734], [6705100, 6705186], [6705848, 6706038], [6711588, 6711662], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6738453, 6738527], [6740967, 6741097], [6761788, 6761860]]
ENST00000294401 [[6695172, 6695760], [6696176, 6696306], [6697257, 6697400], [6697506, 6697564], [6698354, 6698424], [6704617, 6704734], [6705100, 6705186], [6705848, 6706038], [6711588, 6711662], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6738453, 6738527], [6740967, 6741097], [6761788, 6761984]] [[6695734, 6695760], [6696176, 6696306], [6697257, 6697400], [6697506, 6697564], [6698354, 6698424], [6704617, 6704734], [6705100, 6705186], [6705848, 6706038], [6711588, 6711662], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6738453, 6738527], [6740967, 6741097], [6761788, 6761860]]
ENST00000542246 [[6695445, 6695760], [6696176, 6696306], [6697257, 6697400], [6697506, 6697564], [6698354, 6698424], [6699961, 6700117], [6704617, 6704734], [6705100, 6705186], [6705848, 6706038], [6711588, 6711662], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6738453, 6738527], [6740967, 6741097], [6741292, 6741356]] [[6695734, 6695760], [6696176, 6696306], [6697257, 6697400], [6697506, 6697564], [6698354, 6698424], [6699961, 6700117], [6704617, 6704734], [6705100, 6705186], [6705848, 6706038], [6711588, 6711662], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6738453, 6738527], [6740967, 6741055]]
ENST00000377573 [[6695550, 6695760], [6696176, 6696306], [6697257, 6697400], [6697506, 6697564], [6698354, 6698424], [6699961, 6700117], [6704617, 6704734], [6705100, 6705186], [6705848, 6706038], [6711588, 6711662], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6740967, 6741097], [6761788, 6761863]] [[6695734, 6695760], [6696176, 6696306], [6697257, 6697400], [6697506, 6697564], [6698354, 6698424], [6699961, 6700117], [6704617, 6704734], [6705100, 6705186], [6705848, 6706038], [6711588, 6711662], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6740967, 6740973]]
ENST00000472414 [[6697360, 6697400], [6697506, 6697564], [6698142, 6698424], [6699961, 6700117], [6704617, 6704734], [6705100, 6705172]] None
ENST00000426784 [[6705859, 6706038], [6711076, 6711240], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6738453, 6738527], [6740967, 6741097], [6761788, 6761862]] [[6705859, 6706038], [6711076, 6711240], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6738453, 6738527], [6740967, 6741097], [6761788, 6761860]]
ENST00000473993 [[6705935, 6706038], [6711588, 6711662], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6740967, 6741097], [6761788, 6761882]] None
ENST00000469318 [[6712973, 6713011], [6713970, 6714099], [6727768, 6727870], [6728184, 6728270]] None
ENST00000485073 [[6713868, 6714099], [6727768, 6727870], [6738453, 6738527], [6740967, 6741097], [6761788, 6761864]] None
ENST00000460594 [[6714167, 6714347], [6727768, 6727870], [6738453, 6738527], [6740967, 6741097], [6761788, 6761883]] None
ENST00000465911 [[6730520, 6730970], [6738453, 6738527], [6740967, 6741097], [6761788, 6761879]] None
NM_018198 [[6694227, 6695760], [6696176, 6696306], [6697257, 6697400], [6697506, 6697564], [6698354, 6698424], [6699961, 6700117], [6704617, 6704734], [6705100, 6705186], [6705848, 6706038], [6711588, 6711662], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6738453, 6738527], [6740967, 6741097], [6761788, 6761966]] [[6695734, 6695760], [6696176, 6696306], [6697257, 6697400], [6697506, 6697564], [6698354, 6698424], [6699961, 6700117], [6704617, 6704734], [6705100, 6705186], [6705848, 6706038], [6711588, 6711662], [6712888, 6713011], [6713970, 6714099], [6727768, 6727870], [6738453, 6738527], [6740967, 6741097], [6761788, 6761860]]
Promoter
Chrom Start End Description
chr1 6761840 6761851 CAGE_peak_2_at_DNAJC11_5end
chr1 6761855 6761892 CAGE_peak_1_at_DNAJC11_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I006649 6649029 6649161 0.34 [{'connected_gene': 'THAP3', 'score': 12.09}, {'connected_gene': 'DNAJC11', 'score': 11.13}, {'connected_gene': 'KLHL21', 'score': 11.01}, {'connected_gene': 'PHF13', 'score': 10.99}, {'connected_gene': 'GC01M006638', 'score': 0.44}]
chr1 GH01I006587 6587455 6588994 0.58 [{'connected_gene': 'NOL9', 'score': 12.72}, {'connected_gene': 'TAS1R1', 'score': 12.72}, {'connected_gene': 'KLHL21', 'score': 12.52}, {'connected_gene': 'PHF13', 'score': 12.52}, {'connected_gene': 'ENSG00000229519', 'score': 12.43}, {'connected_gene': 'RNU6-731P', 'score': 12.41}, {'connected_gene': 'THAP3', 'score': 11.55}, {'connected_gene': 'DNAJC11', 'score': 10.2}, {'connected_gene': 'GC01M006590', 'score': 0.77}, {'connected_gene': 'ZBTB48', 'score': 0.44}]
chr1 GH01I006700 6700363 6702470 2.1 [{'connected_gene': 'DNAJC11', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 36.43}, {'connected_gene': 'ZBTB48', 'score': 30.38}, {'connected_gene': 'NOL9', 'score': 18.15}, {'connected_gene': 'RPL22', 'score': 11.01}, {'connected_gene': 'PHF13', 'score': 10.78}, {'connected_gene': 'KLHL21', 'score': 10.19}, {'connected_gene': 'GC01M006638', 'score': 0.21}]
chr1 GH01I006693 6693681 6694711 0.31 [{'connected_gene': 'DNAJC11', 'score': 0.44}, {'connected_gene': 'GC01M006638', 'score': 0.23}]
chr1 GH01I006806 6806925 6808628 0.56 [{'connected_gene': 'CAMTA1-DT', 'score': 11.26}, {'connected_gene': 'CAMTA1', 'score': 11.26}, {'connected_gene': 'DNAJC11', 'score': 10.4}, {'connected_gene': 'ENSG00000237365', 'score': 10.09}, {'connected_gene': 'RPL37P9', 'score': 0.31}]
chr1 GH01I006686 6686021 6686728 0.4 [{'connected_gene': 'CAMTA1-DT', 'score': 10.55}, {'connected_gene': 'CAMTA1', 'score': 10.55}, {'connected_gene': 'DNAJC11', 'score': 0.37}, {'connected_gene': 'GC01M006638', 'score': 0.25}]
chr1 GH01I006723 6723526 6725433 0.97 [{'connected_gene': 'LINC01672', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 11.65}, {'connected_gene': 'DNAJC11', 'score': 11.1}, {'connected_gene': 'CAMTA1-DT', 'score': 11.09}, {'connected_gene': 'CAMTA1', 'score': 11.09}, {'connected_gene': 'GC01P006718', 'score': 0.44}]
chr1 GH01I006637 6637881 6639063 0.38 [{'connected_gene': 'GC01M006638', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 0.39}, {'connected_gene': 'DNAJC11', 'score': 0.21}]
chr1 GH01I006589 6589051 6589856 0.74 [{'connected_gene': 'GC01M006590', 'score': 550.77}, {'connected_gene': 'THAP3', 'score': 16.51}, {'connected_gene': 'PHF13', 'score': 13.06}, {'connected_gene': 'KLHL21', 'score': 13.03}, {'connected_gene': 'NOL9', 'score': 12.72}, {'connected_gene': 'TAS1R1', 'score': 12.72}, {'connected_gene': 'ENSG00000229519', 'score': 12.43}, {'connected_gene': 'RNU6-731P', 'score': 12.41}, {'connected_gene': 'DNAJC11', 'score': 10.2}, {'connected_gene': 'ZBTB48', 'score': 0.44}]
chr1 GH01I006646 6646561 6646770 0.49 [{'connected_gene': 'GC01M006638', 'score': 0.44}, {'connected_gene': 'DNAJC11', 'score': 0.22}]
chr1 GH01I006719 6719723 6719854 0.39 [{'connected_gene': 'GC01P006718', 'score': 550.77}, {'connected_gene': 'CAMTA1-DT', 'score': 12.05}, {'connected_gene': 'CAMTA1', 'score': 12.05}, {'connected_gene': 'NOL9', 'score': 2.87}, {'connected_gene': 'DNAJC11', 'score': 1.86}, {'connected_gene': 'LINC01672', 'score': 0.77}]