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
ENST00000472418 [[34613547, 34613868], [34614038, 34614098], [34614706, 34615008]] None
ENST00000479399 [[34613547, 34613868], [34614038, 34616740]] None
ENST00000421919 [[34613547, 34613868], [34614038, 34614098], [34614706, 34614765], [34617881, 34617968], [34618672, 34618757], [34620365, 34620440]] [[34613778, 34613868], [34614038, 34614098], [34614706, 34614765], [34617881, 34617968], [34618672, 34618757], [34620365, 34620440]]
ENST00000341694 [[34613547, 34613868], [34614038, 34614195], [34614706, 34614765], [34616026, 34616110], [34617881, 34617968], [34618672, 34618757], [34620365, 34620471]] [[34614075, 34614195], [34614706, 34614765], [34616026, 34616110], [34617881, 34617968], [34618672, 34618757], [34620365, 34620461]]
ENST00000259632 [[34613547, 34613868], [34614038, 34614098], [34614706, 34614765], [34616026, 34616110], [34617881, 34617968], [34618672, 34618757], [34620365, 34620477]] [[34613778, 34613868], [34614038, 34614098], [34614706, 34614765], [34616026, 34616110], [34617881, 34617968], [34618672, 34618757], [34620365, 34620461]]
ENST00000378916 [[34613548, 34613868], [34614038, 34614098], [34614706, 34614765], [34617881, 34617968], [34618672, 34618757], [34620365, 34620496]] [[34613778, 34613868], [34614038, 34614098], [34614706, 34614765], [34617881, 34617968], [34618672, 34618757], [34620365, 34620461]]
ENST00000447983 [[34613548, 34613868], [34614038, 34614098], [34614706, 34617968], [34618672, 34618757], [34620365, 34620515]] [[34617630, 34617968], [34618672, 34618757], [34620365, 34620461]]
ENST00000477738 [[34613600, 34613898], [34614706, 34614765], [34616026, 34616110], [34617881, 34617968], [34618672, 34618757], [34620365, 34620465]] [[34613778, 34613898], [34614706, 34614765], [34616026, 34616110], [34617881, 34617968], [34618672, 34618757], [34620365, 34620461]]
ENST00000481438 [[34613728, 34614098], [34614706, 34614737]] None
ENST00000472074 [[34614038, 34614098], [34614706, 34614765], [34616026, 34616449]] None
ENST00000378913 [[34614183, 34614765], [34616026, 34616110], [34617881, 34617968], [34618672, 34618757], [34620365, 34620478]] [[34614688, 34614765], [34616026, 34616110], [34617881, 34617968], [34618672, 34618757], [34620365, 34620461]]
ENST00000378911 [[34617667, 34617968], [34618672, 34618757], [34620365, 34620461]] [[34617667, 34617968], [34618672, 34618757], [34620365, 34620461]]
NM_024348 [[34613541, 34613868], [34614038, 34614195], [34614706, 34614765], [34616026, 34616110], [34617881, 34617968], [34618672, 34618757], [34620365, 34620520]] [[34614075, 34614195], [34614706, 34614765], [34616026, 34616110], [34617881, 34617968], [34618672, 34618757], [34620365, 34620461]]
NM_001281426 [[34613541, 34613868], [34614038, 34614129], [34614706, 34614765], [34616026, 34616110], [34617881, 34617968], [34618672, 34618757], [34620365, 34620520]] [[34614075, 34614129], [34614706, 34614765], [34616026, 34616110], [34617881, 34617968], [34618672, 34618757], [34620365, 34620461]]
NM_007234 [[34613541, 34613868], [34614038, 34614098], [34614706, 34614765], [34616026, 34616110], [34617881, 34617968], [34618672, 34618757], [34620365, 34620520]] [[34613778, 34613868], [34614038, 34614098], [34614706, 34614765], [34616026, 34616110], [34617881, 34617968], [34618672, 34618757], [34620365, 34620461]]
NM_001281427 [[34613541, 34613898], [34614706, 34614765], [34616026, 34616110], [34617881, 34617968], [34618672, 34618757], [34620365, 34620520]] [[34613778, 34613898], [34614706, 34614765], [34616026, 34616110], [34617881, 34617968], [34618672, 34618757], [34620365, 34620461]]
NM_001281425 [[34613541, 34613868], [34614038, 34614098], [34614706, 34614765], [34617881, 34617968], [34618672, 34618757], [34620365, 34620520]] [[34613778, 34613868], [34614038, 34614098], [34614706, 34614765], [34617881, 34617968], [34618672, 34618757], [34620365, 34620461]]
Promoter
Chrom Start End Description
chr9 34620462 34620513 CAGE_peak_1_at_DCTN3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I034452 34452223 34452410 0.22 [{'connected_gene': 'ENHO', 'score': 12.23}, {'connected_gene': 'CNTFR', 'score': 11.78}, {'connected_gene': 'RPP25L', 'score': 11.01}, {'connected_gene': 'ENSG00000230729', 'score': 10.73}, {'connected_gene': 'DCTN3', 'score': 9.77}, {'connected_gene': 'NUDT2', 'score': 6.5}, {'connected_gene': 'ARID3C', 'score': 5.97}, {'connected_gene': 'FAM219A', 'score': 1.82}, {'connected_gene': 'DNAI1', 'score': 0.44}, {'connected_gene': 'C9orf24', 'score': 0.23}]
chr9 GH09I034430 34430863 34431012 0.52 [{'connected_gene': 'DNAI1', 'score': 12.28}, {'connected_gene': 'FAM219A', 'score': 12.28}, {'connected_gene': 'ENSG00000230729', 'score': 11.29}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.72}, {'connected_gene': 'ARID3C', 'score': 10.61}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'C9orf24', 'score': 0.29}]
chr9 GH09I034431 34431083 34431232 0.59 [{'connected_gene': 'DNAI1', 'score': 12.28}, {'connected_gene': 'FAM219A', 'score': 12.28}, {'connected_gene': 'ENSG00000230729', 'score': 11.29}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.72}, {'connected_gene': 'ARID3C', 'score': 10.61}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'C9orf24', 'score': 0.29}]
chr9 GH09I034645 34645955 34648591 2.06 [{'connected_gene': 'GALT', 'score': 568.66}, {'connected_gene': 'ENSG00000258728', 'score': 550.77}, {'connected_gene': 'PIGO', 'score': 11.18}, {'connected_gene': 'DCTN3', 'score': 11.12}, {'connected_gene': 'ENSG00000228352', 'score': 10.85}, {'connected_gene': 'SIGMAR1', 'score': 5.74}, {'connected_gene': 'IL11RA', 'score': 0.77}]
chr9 GH09I034573 34573699 34575506 0.2 [{'connected_gene': 'GALT', 'score': 23.49}, {'connected_gene': 'ENSG00000232983', 'score': 13.56}, {'connected_gene': 'RPP25L', 'score': 11.62}, {'connected_gene': 'ENHO', 'score': 11.17}, {'connected_gene': 'ENSG00000230729', 'score': 11.0}, {'connected_gene': 'DCTN3', 'score': 10.42}, {'connected_gene': 'ARID3C', 'score': 10.4}, {'connected_gene': 'SIGMAR1', 'score': 10.37}, {'connected_gene': 'NUDT2', 'score': 4.49}, {'connected_gene': 'GC09P034579', 'score': 0.77}, {'connected_gene': 'CNTFR-AS1', 'score': 0.44}, {'connected_gene': 'LOC105376023', 'score': 0.44}, {'connected_gene': 'CNTFR', 'score': 0.37}]
chr9 GH09I034437 34437463 34437632 0.62 [{'connected_gene': 'FAM219A', 'score': 12.3}, {'connected_gene': 'NUDT2', 'score': 11.53}, {'connected_gene': 'ENSG00000230729', 'score': 11.31}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.73}, {'connected_gene': 'ARID3C', 'score': 10.62}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'DNAI1', 'score': 0.37}, {'connected_gene': 'C9orf24', 'score': 0.28}]
chr9 GH09I034450 34450956 34451821 0.72 [{'connected_gene': 'RPP25L', 'score': 11.0}, {'connected_gene': 'ENHO', 'score': 10.97}, {'connected_gene': 'ENSG00000230729', 'score': 10.72}, {'connected_gene': 'CNTFR', 'score': 10.31}, {'connected_gene': 'DCTN3', 'score': 9.77}, {'connected_gene': 'FAM219A', 'score': 6.12}, {'connected_gene': 'DNAI1', 'score': 0.44}, {'connected_gene': 'C9orf24', 'score': 0.23}]
chr9 GH09I034619 34619619 34621153 1.88 [{'connected_gene': 'DCTN3', 'score': 550.77}, {'connected_gene': 'UBAP2', 'score': 25.59}, {'connected_gene': 'FAM205A', 'score': 12.03}, {'connected_gene': 'RPP25L', 'score': 11.83}, {'connected_gene': 'C9orf131', 'score': 10.73}, {'connected_gene': 'ATP8B5P', 'score': 10.3}, {'connected_gene': 'VCP', 'score': 10.1}, {'connected_gene': 'SIGMAR1', 'score': 6.85}]
chr9 GH09I035525 35525296 35527599 1.16 [{'connected_gene': 'DCTN3', 'score': 9.76}, {'connected_gene': 'CCDC107', 'score': 5.03}, {'connected_gene': 'GBA2', 'score': 4.86}, {'connected_gene': 'RPL36AP33', 'score': 0.37}, {'connected_gene': 'PIR61372', 'score': 0.34}, {'connected_gene': 'RUSC2', 'score': 0.28}]
chr9 GH09I034441 34441001 34441200 0.2 [{'connected_gene': 'ENSG00000232983', 'score': 11.27}, {'connected_gene': 'CNTFR-AS1', 'score': 11.26}, {'connected_gene': 'RPP25L', 'score': 10.76}, {'connected_gene': 'ENHO', 'score': 10.73}, {'connected_gene': 'ARID3C', 'score': 10.37}, {'connected_gene': 'ENSG00000230729', 'score': 10.26}, {'connected_gene': 'DCTN3', 'score': 10.21}, {'connected_gene': 'DNAI1', 'score': 0.37}, {'connected_gene': 'FAM219A', 'score': 0.37}, {'connected_gene': 'C9orf24', 'score': 0.26}]
chr9 GH09I034575 34575665 34580790 0.77 [{'connected_gene': 'GC09P034579', 'score': 550.77}, {'connected_gene': 'GC09P034580', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 26.13}, {'connected_gene': 'RPP25L', 'score': 22.39}, {'connected_gene': 'ENSG00000230074', 'score': 15.55}, {'connected_gene': 'ENHO', 'score': 15.51}, {'connected_gene': 'FAM219A', 'score': 14.09}, {'connected_gene': 'ENSG00000232983', 'score': 13.54}, {'connected_gene': 'ARID3C', 'score': 12.12}, {'connected_gene': 'CNTFR', 'score': 11.37}, {'connected_gene': 'ENSG00000230729', 'score': 10.98}, {'connected_gene': 'SIGMAR1', 'score': 10.74}, {'connected_gene': 'DNAI1', 'score': 10.51}, {'connected_gene': 'DCTN3', 'score': 10.44}, {'connected_gene': 'IL11RA', 'score': 10.15}, {'connected_gene': 'CCL19', 'score': 9.62}, {'connected_gene': 'DNAJB5', 'score': 4.58}, {'connected_gene': 'PHF24', 'score': 3.22}, {'connected_gene': 'LOC105376023', 'score': 0.44}, {'connected_gene': 'CNTFR-AS1', 'score': 0.39}]