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
ENST00000526767 [[70894129, 70894233], [70896444, 70896508], [70897695, 70897716], [70897794, 70897824], [70898883, 70898970], [70901983, 70902255]] [[70896457, 70896508], [70897695, 70897716], [70897794, 70897824], [70898883, 70898937]]
ENST00000530128 [[70894171, 70894233], [70896444, 70896508], [70897695, 70897716], [70897794, 70897824], [70898883, 70898970], [70899618, 70900129]] [[70896457, 70896508], [70897695, 70897716], [70897794, 70897824], [70898883, 70898937]]
ENST00000528003 [[70894175, 70894233], [70896444, 70897125]] None
ENST00000529625 [[70894175, 70894233], [70896444, 70896508], [70897695, 70897824], [70898883, 70899263]] None
ENST00000533547 [[70894175, 70894233], [70896444, 70896508], [70897695, 70897824], [70898883, 70898970], [70901983, 70902244]] None
ENST00000381057 [[70894175, 70894233], [70896444, 70896508], [70897695, 70897716], [70898883, 70898970], [70901983, 70902246]] [[70896457, 70896508], [70897695, 70897716], [70898883, 70898937]]
NM_000200 [[70894129, 70894233], [70896444, 70896508], [70897695, 70897716], [70897794, 70897824], [70898883, 70898970], [70901983, 70902255]] [[70896457, 70896508], [70897695, 70897716], [70897794, 70897824], [70898883, 70898937]]
Promoter
Chrom Start End Description
chr4 70893956 70893962 CAGE_peak_3_at_HTN3_5end
chr4 70894169 70894188 CAGE_peak_1_at_HTN3_5end
chr4 70896475 70896477 CAGE_peak_2_at_HTN3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I069995 69995917 69995976 0.5 [{'connected_gene': 'STATH', 'score': 550.77}, {'connected_gene': 'HTN3', 'score': 0.29}]
chr4 GH04I070028 70028410 70028469 0.5 [{'connected_gene': 'HTN3', 'score': 550.77}, {'connected_gene': 'GC04P070037', 'score': 0.44}]