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
ENST00000397420 [[832842, 833022], [834529, 834591], [836062, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838829]] [[836069, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838192]]
ENST00000525718 [[832886, 833026], [833987, 834067], [834529, 834591], [836062, 836153], [836250, 836442]] [[836069, 836153], [836250, 836442]]
ENST00000530155 [[832951, 833026], [836062, 836480]] None
ENST00000397421 [[832951, 833026], [836062, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838834]] [[836069, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838192]]
ENST00000322008 [[832951, 833026], [834529, 834591], [836062, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838834]] [[836069, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838192]]
ENST00000529810 [[832960, 833026], [836062, 836153], [836250, 836442], [837249, 837354], [837459, 837613]] [[836069, 836153], [836250, 836442], [837249, 837354], [837459, 837613]]
ENST00000526693 [[832968, 833022], [834529, 834591], [835019, 835139], [836062, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837531]] [[836069, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837531]]
ENST00000525333 [[832985, 833026], [834529, 834803], [836062, 836153], [836250, 836405]] [[836069, 836153], [836250, 836405]]
ENST00000525868 [[832985, 833026], [834457, 834591], [836062, 836153], [836250, 836525]] None
ENST00000531999 [[832985, 833026], [834529, 834591], [836062, 836539]] None
ENST00000527341 [[832993, 833026], [834529, 834745], [836062, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837544]] [[836069, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837544]]
ENST00000524748 [[832993, 833022], [834529, 834745], [836062, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837544]] [[836069, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837544]]
ENST00000526661 [[832996, 833026], [836062, 836153], [836250, 837023]] None
ENST00000530726 [[833008, 833022], [834529, 834591], [836062, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838367], [838444, 838831]] [[836069, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838192]]
ENST00000532045 [[834526, 834591], [836062, 836153], [836250, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838835]] None
ENST00000528867 [[834871, 835139], [836062, 836153], [836250, 836436]] [[836069, 836153], [836250, 836436]]
ENST00000530320 [[835193, 835324], [836062, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837513]] [[836069, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837513]]
ENST00000526439 [[835550, 836153], [836250, 836360]] [[836069, 836153], [836250, 836360]]
ENST00000528011 [[836062, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837612], [837941, 838028], [838132, 838798]] [[836069, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837612], [837941, 838028], [838132, 838192]]
ENST00000532075 [[836802, 837354], [837459, 837618], [837941, 838016]] None
ENST00000525181 [[838179, 838367], [839655, 839831]] None
NM_001039490 [[832951, 833022], [836062, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838835]] [[836069, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838192]]
NM_139029 [[832951, 833022], [834529, 834591], [836062, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838835]] [[836069, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838192]]
NM_139030 [[832951, 833026], [836062, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838835]] [[836069, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838192]]
NM_004357 [[832951, 833026], [834529, 834591], [836062, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838835]] [[836069, 836153], [836250, 836442], [836768, 836843], [837249, 837354], [837459, 837618], [837941, 838028], [838132, 838192]]
Promoter
Chrom Start End Description
chr11 832701 832778 CAGE_peak_2_at_CD151_5end
chr11 832804 832816 CAGE_peak_18_at_CD151_5end
chr11 832944 832994 CAGE_peak_1_at_CD151_5end
chr11 834478 834494 CAGE_peak_17_at_CD151_5end
chr11 836384 836405 CAGE_peak_3_at_CD151_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I000849 848841 851349 1.14 [{'connected_gene': 'CD151', 'score': 12.32}, {'connected_gene': 'CHID1', 'score': 5.05}, {'connected_gene': 'POLR2L', 'score': 4.89}, {'connected_gene': 'ENSG00000250397', 'score': 0.44}, {'connected_gene': 'TSPAN4', 'score': 0.44}]
chr11 GH11I000878 876261 876790 0.85 [{'connected_gene': 'CD151', 'score': 11.78}, {'connected_gene': 'GC11M000880', 'score': 0.77}, {'connected_gene': 'ENSG00000250397', 'score': 0.37}, {'connected_gene': 'CHID1', 'score': 0.28}]
chr11 GH11I000877 877781 877930 0.57 [{'connected_gene': 'CD151', 'score': 11.42}, {'connected_gene': 'GC11M000880', 'score': 0.77}, {'connected_gene': 'ENSG00000250397', 'score': 0.37}, {'connected_gene': 'CHID1', 'score': 0.28}]
chr11 GH11I000873 873270 874225 0.31 [{'connected_gene': 'CD151', 'score': 5.83}, {'connected_gene': 'GC11M000880', 'score': 0.44}, {'connected_gene': 'ENSG00000250397', 'score': 0.39}, {'connected_gene': 'CHID1', 'score': 0.26}]
chr11 GH11I000831 831121 835628 2.17 [{'connected_gene': 'CD151', 'score': 613.06}, {'connected_gene': 'ENSG00000255108', 'score': 550.77}, {'connected_gene': 'SNORA52', 'score': 17.38}, {'connected_gene': 'TMEM80', 'score': 17.17}, {'connected_gene': 'TSPAN4', 'score': 15.48}, {'connected_gene': 'BET1L', 'score': 15.18}, {'connected_gene': 'ENSG00000255237', 'score': 14.72}, {'connected_gene': 'PHRF1', 'score': 13.1}, {'connected_gene': 'PIDD1', 'score': 10.16}, {'connected_gene': 'RPLP2', 'score': 5.73}, {'connected_gene': 'GC11M000839', 'score': 0.77}, {'connected_gene': 'CRACR2B', 'score': 0.44}]
chr11 GH11I000832 830561 830710 0.79 [{'connected_gene': 'CD151', 'score': 46.17}, {'connected_gene': 'PIR51142', 'score': 0.77}, {'connected_gene': 'CRACR2B', 'score': 0.77}, {'connected_gene': 'ENSG00000255108', 'score': 0.77}]
chr11 GH11I000839 839992 847569 2.25 [{'connected_gene': 'TSPAN4', 'score': 574.81}, {'connected_gene': 'POLR2L', 'score': 556.07}, {'connected_gene': 'GC11M000841', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 50.69}, {'connected_gene': 'SNORA52', 'score': 29.58}, {'connected_gene': 'RPLP2', 'score': 26.64}, {'connected_gene': 'TMEM80', 'score': 25.95}, {'connected_gene': 'PIDD1', 'score': 23.35}, {'connected_gene': 'RIC8A', 'score': 21.73}, {'connected_gene': 'BET1L', 'score': 15.48}, {'connected_gene': 'ENSG00000255237', 'score': 13.61}, {'connected_gene': 'B4GALNT4', 'score': 13.27}, {'connected_gene': 'PHRF1', 'score': 12.95}, {'connected_gene': 'BRSK2', 'score': 11.54}, {'connected_gene': 'GATD1', 'score': 11.33}, {'connected_gene': 'SLC25A22', 'score': 11.33}, {'connected_gene': 'AP2A2', 'score': 11.32}, {'connected_gene': 'CEND1', 'score': 11.31}, {'connected_gene': 'ENSG00000255158', 'score': 10.55}, {'connected_gene': 'DEAF1', 'score': 9.95}, {'connected_gene': 'CHID1', 'score': 5.18}, {'connected_gene': 'PIR52875', 'score': 0.77}, {'connected_gene': 'ENSG00000250397', 'score': 0.37}]
chr11 GH11I000904 904864 904923 0.5 [{'connected_gene': 'CHID1', 'score': 550.39}, {'connected_gene': 'AP2A2', 'score': 11.91}, {'connected_gene': 'PIDD1', 'score': 11.02}, {'connected_gene': 'RPLP2', 'score': 11.02}, {'connected_gene': 'SLC25A22', 'score': 11.01}, {'connected_gene': 'CEND1', 'score': 11.0}, {'connected_gene': 'CD151', 'score': 8.92}, {'connected_gene': 'GC11P000900', 'score': 0.77}]
chr11 GH11I000818 818246 822879 2.19 [{'connected_gene': 'PNPLA2', 'score': 556.24}, {'connected_gene': 'RPLP2', 'score': 30.33}, {'connected_gene': 'ENSG00000255108', 'score': 28.08}, {'connected_gene': 'LOC171391', 'score': 24.57}, {'connected_gene': 'TMEM80', 'score': 14.5}, {'connected_gene': 'RIC8A', 'score': 12.89}, {'connected_gene': 'BET1L', 'score': 11.78}, {'connected_gene': 'SNORA52', 'score': 11.23}, {'connected_gene': 'PHRF1', 'score': 9.74}, {'connected_gene': 'CRACR2B', 'score': 7.74}, {'connected_gene': 'CD151', 'score': 5.58}, {'connected_gene': 'GC11M000811', 'score': 0.77}]
chr11 GH11I000861 861850 864921 0.93 [{'connected_gene': 'PIDD1', 'score': 15.82}, {'connected_gene': 'TMEM80', 'score': 15.48}, {'connected_gene': 'ENSG00000255142', 'score': 14.47}, {'connected_gene': 'PHRF1', 'score': 10.08}, {'connected_gene': 'ENSG00000255158', 'score': 9.72}, {'connected_gene': 'CD151', 'score': 8.99}, {'connected_gene': 'CHID1', 'score': 6.99}, {'connected_gene': 'ENSG00000250397', 'score': 0.77}, {'connected_gene': 'GC11M000880', 'score': 0.37}, {'connected_gene': 'TSPAN4', 'score': 0.34}]
chr11 GH11I000689 689506 690216 0.2 [{'connected_gene': 'TMEM80', 'score': 13.51}, {'connected_gene': 'CD151', 'score': 6.2}, {'connected_gene': 'EPS8L2', 'score': 0.77}, {'connected_gene': 'DEAF1', 'score': 0.37}, {'connected_gene': 'ENSG00000255158', 'score': 0.34}]
chr11 GH11I000824 824121 830480 2.19 [{'connected_gene': 'CRACR2B', 'score': 559.51}, {'connected_gene': 'PIR51142', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 41.24}, {'connected_gene': 'ENSG00000255108', 'score': 27.84}, {'connected_gene': 'RPLP2', 'score': 21.01}, {'connected_gene': 'LOC171391', 'score': 6.85}, {'connected_gene': 'CHID1', 'score': 4.87}, {'connected_gene': 'POLR2L', 'score': 4.69}, {'connected_gene': 'B4GALNT4', 'score': 4.26}, {'connected_gene': 'PNPLA2', 'score': 0.44}]
chr11 GH11I000898 898121 898350 0.49 [{'connected_gene': 'AP2A2', 'score': 11.92}, {'connected_gene': 'PIDD1', 'score': 11.03}, {'connected_gene': 'RPLP2', 'score': 11.03}, {'connected_gene': 'SLC25A22', 'score': 11.02}, {'connected_gene': 'CEND1', 'score': 11.01}, {'connected_gene': 'CD151', 'score': 9.96}, {'connected_gene': 'GC11P000900', 'score': 0.77}, {'connected_gene': 'GC11M000881', 'score': 0.37}, {'connected_gene': 'CHID1', 'score': 0.37}]
chr11 GH11I001039 1039281 1040901 1.03 [{'connected_gene': 'LOC101927503', 'score': 550.77}, {'connected_gene': 'MUC6', 'score': 35.86}, {'connected_gene': 'AP2A2', 'score': 17.95}, {'connected_gene': 'CD151', 'score': 4.8}, {'connected_gene': 'GC11P001047', 'score': 0.44}]
chr11 GH11I000857 857685 861084 1.12 [{'connected_gene': 'ENSG00000250397', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 12.55}, {'connected_gene': 'CHID1', 'score': 6.16}, {'connected_gene': 'TMEM80', 'score': 4.45}, {'connected_gene': 'TSPAN4', 'score': 0.37}]
chr11 GH11I000836 836784 839613 1.13 [{'connected_gene': 'GC11M000839', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 62.43}, {'connected_gene': 'SNORA52', 'score': 12.55}, {'connected_gene': 'PIDD1', 'score': 12.55}, {'connected_gene': 'RPLP2', 'score': 12.55}, {'connected_gene': 'SLC25A22', 'score': 11.36}, {'connected_gene': 'CEND1', 'score': 11.33}, {'connected_gene': 'AP2A2', 'score': 11.31}, {'connected_gene': 'POLR2L', 'score': 0.77}, {'connected_gene': 'PIR52875', 'score': 0.77}]
chr11 GH11I000830 830821 831030 0.77 [{'connected_gene': 'ENSG00000255108', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 550.77}, {'connected_gene': 'PIR51142', 'score': 0.77}, {'connected_gene': 'CRACR2B', 'score': 0.77}]
chr11 GH11I000725 725018 730200 1.42 [{'connected_gene': 'ENSG00000269915', 'score': 550.77}, {'connected_gene': 'ENSG00000255108', 'score': 29.77}, {'connected_gene': 'RPLP2', 'score': 20.51}, {'connected_gene': 'LOC171391', 'score': 14.34}, {'connected_gene': 'TMEM80', 'score': 7.5}, {'connected_gene': 'CD151', 'score': 7.05}, {'connected_gene': 'EPS8L2', 'score': 5.7}, {'connected_gene': 'LOC105376509', 'score': 0.44}]
chr11 GH11I000966 966423 967310 0.56 [{'connected_gene': 'GC11P000968', 'score': 550.77}, {'connected_gene': 'AP2A2', 'score': 12.45}, {'connected_gene': 'CHID1', 'score': 11.41}, {'connected_gene': 'POLR2L', 'score': 5.47}, {'connected_gene': 'CD151', 'score': 4.78}, {'connected_gene': 'RNU6-1025P', 'score': 0.37}]

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