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
ENST00000260682 [[96698427, 96698607], [96701614, 96701777], [96701948, 96702098], [96707535, 96707696], [96708864, 96709041], [96731860, 96732002], [96740939, 96741127], [96745789, 96745931], [96748603, 96749147]] [[96698439, 96698607], [96701614, 96701777], [96701948, 96702098], [96707535, 96707696], [96708864, 96709041], [96731860, 96732002], [96740939, 96741127], [96745789, 96745931], [96748603, 96748785]]
ENST00000461906 [[96698414, 96698607], [96701614, 96701777], [96701948, 96703023]] None
ENST00000473496 [[96701675, 96701777], [96701948, 96702098], [96707535, 96707696], [96708864, 96709292]] None
NM_000771 [[96698414, 96698607], [96701614, 96701777], [96701948, 96702098], [96707535, 96707696], [96708864, 96709041], [96731860, 96732002], [96740939, 96741127], [96745789, 96745931], [96748603, 96749148]] [[96698439, 96698607], [96701614, 96701777], [96701948, 96702098], [96707535, 96707696], [96708864, 96709041], [96731860, 96732002], [96740939, 96741127], [96745789, 96745931], [96748603, 96748785]]
Promoter
Chrom Start End Description
chr10 96698406 96698421 CAGE_peak_1_at_CYP2C9_5end
chr10 96698531 96698542 CAGE_peak_2_at_CYP2C9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I094212 94212524 94214841 0.88 [{'connected_gene': 'NOC3L', 'score': 6.66}, {'connected_gene': 'MTND4P19', 'score': 4.76}, {'connected_gene': 'HELLS', 'score': 4.36}, {'connected_gene': 'CYP2C9', 'score': 3.95}, {'connected_gene': 'ENSG00000228553', 'score': 0.39}, {'connected_gene': 'RNU6-657P', 'score': 0.22}, {'connected_gene': 'GC10M094156', 'score': 0.22}, {'connected_gene': 'PLCE1', 'score': 0.08}]
chr10 GH10I094679 94679461 94684898 1.36 [{'connected_gene': 'CYP2C18', 'score': 550.77}, {'connected_gene': 'ACSM6', 'score': 27.79}, {'connected_gene': 'CYP2C19', 'score': 14.98}, {'connected_gene': 'MTND4P19', 'score': 5.84}, {'connected_gene': 'NOC3L', 'score': 5.34}, {'connected_gene': 'CYP2C9', 'score': 4.69}, {'connected_gene': 'CTBP2P2', 'score': 0.29}]
chr10 GH10I094938 94938609 94938668 0.87 [{'connected_gene': 'CYP2C9', 'score': 550.77}, {'connected_gene': 'CYP2C115P', 'score': 0.29}]
chr10 GH10I095331 95330124 95330487 0.76 [{'connected_gene': 'SORBS1', 'score': 7.81}, {'connected_gene': 'CYP2C8', 'score': 1.87}, {'connected_gene': 'CYP2C9', 'score': 1.61}, {'connected_gene': 'PDLIM1', 'score': 0.28}, {'connected_gene': 'GC10M095392', 'score': 0.21}]

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