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
ENST00000422177 [[100956974, 100957386], [100957684, 100958563], [100959620, 100959823], [100961404, 100961494], [100962236, 100962313], [100964951, 100965075]] [[100958414, 100958563], [100959620, 100959823], [100961404, 100961494], [100962236, 100962313], [100964951, 100964990]]
ENST00000517481 [[100957455, 100958563], [100959620, 100959823], [100961404, 100961494], [100962236, 100962313], [100964707, 100964780], [100964951, 100965057]] [[100958414, 100958563], [100959620, 100959798]]
ENST00000315322 [[100957936, 100958563], [100959620, 100959823], [100961404, 100961494], [100962236, 100962313], [100964951, 100965084]] [[100958414, 100958563], [100959620, 100959823], [100961404, 100961494], [100962236, 100962313], [100964951, 100964990]]
ENST00000498704 [[100958033, 100958563], [100959620, 100959823], [100961404, 100961494], [100964951, 100965045]] [[100958414, 100958563], [100959620, 100959798]]
ENST00000440362 [[100958068, 100958563], [100959620, 100959823], [100961404, 100962313], [100964951, 100965071]] None
ENST00000437644 [[100958075, 100958563], [100959620, 100959823], [100962236, 100962313], [100964951, 100965058]] [[100958414, 100958563], [100959620, 100959823], [100962236, 100962313], [100964951, 100964990]]
ENST00000430911 [[100958158, 100958563], [100959620, 100959823], [100961404, 100961494], [100962236, 100962344], [100964951, 100965078]] [[100962269, 100962344], [100964951, 100964990]]
ENST00000495166 [[100958352, 100958563], [100959620, 100959823], [100964951, 100965104]] None
ENST00000468833 [[100958773, 100959823], [100964951, 100965071]] None
ENST00000485695 [[100959105, 100959823], [100961404, 100961494], [100964951, 100965066]] None
NM_001287525 [[100956647, 100958563], [100959620, 100959823], [100961404, 100961494], [100962236, 100962313], [100964707, 100964780], [100964951, 100965104]] [[100958414, 100958563], [100959620, 100959798]]
NM_001130821 [[100956647, 100958563], [100959620, 100959823], [100961404, 100961494], [100962236, 100962344], [100964951, 100965104]] [[100958414, 100958563], [100959620, 100959798]]
NM_022777 [[100956647, 100958563], [100959620, 100959823], [100961404, 100961494], [100962236, 100962313], [100964951, 100965104]] [[100958414, 100958563], [100959620, 100959823], [100961404, 100961494], [100962236, 100962313], [100964951, 100964990]]
NM_001130820 [[100956647, 100958563], [100959620, 100959823], [100962236, 100962313], [100964951, 100965104]] [[100958414, 100958563], [100959620, 100959823], [100962236, 100962313], [100964951, 100964990]]
NM_001130822 [[100956647, 100958563], [100959620, 100959823], [100961404, 100961494], [100964951, 100965104]] [[100958414, 100958563], [100959620, 100959798]]
NM_001287526 [[100956647, 100958563], [100959620, 100959823], [100964951, 100965104]] [[100958414, 100958563], [100959620, 100959798]]
Promoter
Chrom Start End Description
chr7 100965011 100965108 CAGE_peak_1_at_RABL5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I101321 101321151 101322742 1.98 [{'connected_gene': 'IFT22', 'score': 550.77}, {'connected_gene': 'LOC101927746', 'score': 36.31}, {'connected_gene': 'SRRT', 'score': 15.42}, {'connected_gene': 'PCOLCE-AS1', 'score': 12.33}, {'connected_gene': 'MEPCE', 'score': 10.31}, {'connected_gene': 'GIGYF1', 'score': 9.91}, {'connected_gene': 'COL26A1', 'score': 0.26}]
chr7 GH07I101319 101319049 101319108 0.5 [{'connected_gene': 'IFT22', 'score': 550.77}, {'connected_gene': 'PIR42767', 'score': 0.77}, {'connected_gene': 'LOC101927746', 'score': 0.39}]
chr7 GH07I100581 100581732 100587601 2.31 [{'connected_gene': 'FBXO24', 'score': 562.24}, {'connected_gene': 'LRCH4', 'score': 561.01}, {'connected_gene': 'ZSCAN25', 'score': 44.29}, {'connected_gene': 'AP4M1', 'score': 42.85}, {'connected_gene': 'ZSCAN21', 'score': 42.71}, {'connected_gene': 'SRRT', 'score': 37.23}, {'connected_gene': 'SAP25', 'score': 30.69}, {'connected_gene': 'MEPCE', 'score': 29.79}, {'connected_gene': 'PPP1R35', 'score': 29.25}, {'connected_gene': 'GIGYF1', 'score': 27.33}, {'connected_gene': 'TRIM4', 'score': 26.8}, {'connected_gene': 'ZNF3', 'score': 20.21}, {'connected_gene': 'STAG3L5P', 'score': 18.86}, {'connected_gene': 'MBLAC1', 'score': 14.65}, {'connected_gene': 'TMEM225B', 'score': 12.98}, {'connected_gene': 'AGFG2', 'score': 11.66}, {'connected_gene': 'MOSPD3', 'score': 11.61}, {'connected_gene': 'C7orf43', 'score': 11.01}, {'connected_gene': 'GPC2', 'score': 10.79}, {'connected_gene': 'IFT22', 'score': 10.68}, {'connected_gene': 'ZKSCAN1', 'score': 10.36}, {'connected_gene': 'TAF6', 'score': 10.16}, {'connected_gene': 'PCOLCE-AS1', 'score': 10.11}, {'connected_gene': 'ENSG00000242798', 'score': 9.83}, {'connected_gene': 'CNPY4', 'score': 9.67}]
chr7 GH07I101879 101879689 101885999 1.81 [{'connected_gene': 'FAM185A', 'score': 13.72}, {'connected_gene': 'IFT22', 'score': 10.68}, {'connected_gene': 'ENSG00000213385', 'score': 9.93}, {'connected_gene': 'CUX1', 'score': 3.65}, {'connected_gene': 'SH2B2', 'score': 2.16}, {'connected_gene': 'GC07P101859', 'score': 0.34}, {'connected_gene': 'ENSG00000272219', 'score': 0.18}]
chr7 GH07I101352 101352420 101352689 0.98 [{'connected_gene': 'LOC101927746', 'score': 9.74}, {'connected_gene': 'COL26A1', 'score': 0.39}, {'connected_gene': 'IFT22', 'score': 0.29}]
chr7 GH07I101315 101315340 101315509 0.49 [{'connected_gene': 'PIR47287', 'score': 550.77}, {'connected_gene': 'PIR32353', 'score': 550.77}, {'connected_gene': 'PIR42767', 'score': 550.77}, {'connected_gene': 'LOC101927746', 'score': 0.44}, {'connected_gene': 'IFT22', 'score': 0.44}]