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
ENST00000296509 [[120976762, 120981445], [120982028, 120982132], [120983129, 120983250], [120986826, 120986973], [120987816, 120988229]] [[120981272, 120981445], [120982028, 120982132], [120983129, 120983250], [120986826, 120986973], [120987816, 120987889]]
ENST00000333047 [[120980591, 120981445], [120982028, 120982132], [120986826, 120986973], [120987816, 120987988]] [[120982079, 120982132], [120986826, 120986973], [120987816, 120987889]]
ENST00000512484 [[120980982, 120981445], [120982028, 120982191]] None
ENST00000504707 [[120980982, 120981445], [120982028, 120982132], [120987816, 120988013]] [[120982079, 120982132], [120987816, 120987889]]
ENST00000511295 [[120986605, 120986973], [120987816, 120987976]] None
NM_002358 [[120980576, 120981445], [120982028, 120982132], [120983129, 120983250], [120986826, 120986973], [120987816, 120988013]] [[120981272, 120981445], [120982028, 120982132], [120983129, 120983250], [120986826, 120986973], [120987816, 120987889]]
Promoter
Chrom Start End Description
chr4 120987899 120987928 CAGE_peak_2_at_MAD2L1_5end
chr4 120987933 120988022 CAGE_peak_1_at_MAD2L1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I120064 120064136 120068593 2.04 [{'connected_gene': 'MAD2L1', 'score': 555.02}, {'connected_gene': 'ENSG00000250938', 'score': 550.77}, {'connected_gene': 'USP53', 'score': 4.59}, {'connected_gene': 'ENSG00000253825', 'score': 0.31}]
chr4 GH04I120071 120071201 120071600 0.74 [{'connected_gene': 'MAD2L1', 'score': 0.77}, {'connected_gene': 'ENSG00000250938', 'score': 0.77}, {'connected_gene': 'LTV1P1', 'score': 0.34}]

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