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
ENST00000288207 [[59397276, 59397491], [59399520, 59399649], [59399755, 59399869], [59406642, 59406813], [59406916, 59407075], [59408888, 59409125], [59409426, 59409567], [59415715, 59415826], [59416965, 59417244]] [[59397467, 59397491], [59399520, 59399649], [59399755, 59399869], [59406642, 59406813], [59406916, 59407075], [59408888, 59409125], [59409426, 59409567], [59415715, 59415826], [59416965, 59417076]]
ENST00000561077 [[59397324, 59397491], [59399520, 59399869], [59406642, 59406813]] None
ENST00000559622 [[59397355, 59397491], [59406642, 59406813], [59406916, 59407075], [59408888, 59409125], [59415715, 59415826], [59416965, 59417215]] [[59397467, 59397491], [59406642, 59406813], [59406916, 59407075], [59408888, 59409125], [59415715, 59415826], [59416965, 59417076]]
ENST00000559301 [[59408965, 59409125], [59409426, 59409567], [59415715, 59415989]] None
NM_004701 [[59397283, 59397491], [59399520, 59399649], [59399755, 59399869], [59406642, 59406813], [59406916, 59407075], [59408888, 59409125], [59409426, 59409567], [59415715, 59415826], [59416965, 59417244]] [[59397467, 59397491], [59399520, 59399649], [59399755, 59399869], [59406642, 59406813], [59406916, 59407075], [59408888, 59409125], [59409426, 59409567], [59415715, 59415826], [59416965, 59417076]]
Promoter
Chrom Start End Description
chr15 59397275 59397278 CAGE_peak_5_at_CCNB2_5end
chr15 59397289 59397296 CAGE_peak_4_at_CCNB2_5end
chr15 59397298 59397353 CAGE_peak_1_at_CCNB2_5end
chr15 59397366 59397381 CAGE_peak_2_at_CCNB2_5end
chr15 59397404 59397415 CAGE_peak_3_at_CCNB2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I059104 59104319 59106426 2.02 [{'connected_gene': 'CCNB2', 'score': 550.77}, {'connected_gene': 'BNIP2', 'score': 11.35}, {'connected_gene': 'SLTM', 'score': 10.45}, {'connected_gene': 'PIGHP1', 'score': 10.04}, {'connected_gene': 'PIR47582', 'score': 0.77}, {'connected_gene': 'GC15M059055', 'score': 0.12}]