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
ENST00000419783 [[49394608, 49395180], [49395459, 49396033]] [[49394820, 49395180], [49395459, 49395711]]
ENST00000419349 [[49394610, 49395716]] [[49395414, 49395711]]
ENST00000496791 [[49395040, 49395321], [49395459, 49395758]] None
NM_201397 [[49394603, 49396033]] [[49395414, 49395711]]
NM_001329502 [[49394603, 49395321], [49395459, 49396033]] [[49395258, 49395321], [49395459, 49395711]]
NM_001329503 [[49394603, 49395199], [49395459, 49396033]] [[49394938, 49395199], [49395459, 49395711]]
NM_000581 [[49394603, 49395180], [49395459, 49396033]] [[49394820, 49395180], [49395459, 49395711]]
NM_001329455 [[49394603, 49395180], [49395597, 49396033]] [[49394820, 49395180], [49395597, 49395711]]
Promoter
Chrom Start End Description
chr3 49395773 49395819 CAGE_peak_1_at_GPX1_5end
chr3 49395892 49395915 CAGE_peak_6_at_GPX1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I049924 49924465 49931909 2.25 [{'connected_gene': 'MON1A', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 43.9}, {'connected_gene': 'CDHR4', 'score': 8.77}, {'connected_gene': 'GPX1', 'score': 4.73}, {'connected_gene': 'SEMA3F-AS1', 'score': 4.44}, {'connected_gene': 'HYAL1', 'score': 3.64}, {'connected_gene': 'GC03P049904', 'score': 0.34}, {'connected_gene': 'LOC102724438', 'score': 0.31}, {'connected_gene': 'GC03P049762', 'score': 0.1}, {'connected_gene': 'GC03P049763', 'score': 0.1}]
chr3 GH03I049356 49356166 49360407 2.22 [{'connected_gene': 'GPX1', 'score': 550.77}, {'connected_gene': 'GC03M049358', 'score': 550.77}, {'connected_gene': 'GC03M049359', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 44.92}, {'connected_gene': 'QRICH1', 'score': 23.62}, {'connected_gene': 'RBM5', 'score': 20.29}, {'connected_gene': 'RBM6', 'score': 19.63}, {'connected_gene': 'SEMA3F-AS1', 'score': 17.68}, {'connected_gene': 'RHOA-IT1', 'score': 15.9}, {'connected_gene': 'USP19', 'score': 15.43}, {'connected_gene': 'RASSF1', 'score': 13.78}, {'connected_gene': 'ATRIP', 'score': 13.35}, {'connected_gene': 'TMEM89', 'score': 13.11}, {'connected_gene': 'FAM212A', 'score': 11.91}, {'connected_gene': 'CCDC71', 'score': 11.8}, {'connected_gene': 'IP6K2', 'score': 10.79}, {'connected_gene': 'QARS', 'score': 10.78}, {'connected_gene': 'ENSG00000235236', 'score': 9.9}, {'connected_gene': 'WDR6', 'score': 9.85}, {'connected_gene': 'HYAL3', 'score': 4.82}, {'connected_gene': 'RHOA', 'score': 0.23}]
chr3 GH03I049362 49361059 49361665 0.84 [{'connected_gene': 'GPX1', 'score': 0.77}, {'connected_gene': 'RHOA-IT1', 'score': 0.44}, {'connected_gene': 'RHOA', 'score': 0.23}]
chr3 GH03I049361 49361999 49363639 0.38 [{'connected_gene': 'AMT', 'score': 44.03}, {'connected_gene': 'RHOA-IT1', 'score': 0.77}, {'connected_gene': 'GPX1', 'score': 0.77}, {'connected_gene': 'RHOA', 'score': 0.23}]