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
ENST00000255224 [[40847842, 40850613], [40851676, 40851797], [40853544, 40854359], [40857212, 40857615]] [[40850305, 40850613], [40851676, 40851797], [40853544, 40854359], [40857212, 40857246]]
ENST00000586678 [[40849631, 40850526], [40857253, 40857500]] None
ENST00000590752 [[40849973, 40850613], [40851676, 40851797], [40853544, 40854305], [40857212, 40857455]] [[40850305, 40850613], [40851676, 40851797], [40853544, 40854305], [40857212, 40857246]]
ENST00000585604 [[40850145, 40850613], [40851676, 40851797], [40857307, 40857464]] None
ENST00000596867 [[40850464, 40850613], [40851676, 40851797], [40853544, 40853588], [40857204, 40857455]] [[40850464, 40850613], [40851676, 40851797], [40853544, 40853583]]
ENST00000589479 [[40850516, 40850613], [40851676, 40852116]] None
ENST00000593720 [[40851696, 40851797], [40853544, 40853777], [40854262, 40854359], [40857212, 40857341]] [[40851696, 40851797], [40853544, 40853777], [40854262, 40854359]]
ENST00000591820 [[40853997, 40854359], [40857307, 40857455]] None
NM_020783 [[40847856, 40850613], [40851676, 40851797], [40853544, 40854359], [40857212, 40857615]] [[40850305, 40850613], [40851676, 40851797], [40853544, 40854359], [40857212, 40857246]]
Promoter
Chrom Start End Description
chr18 40857274 40857292 CAGE_peak_5_at_SYT4_5end
chr18 40857296 40857305 CAGE_peak_8_at_SYT4_5end
chr18 40857329 40857357 CAGE_peak_2_at_SYT4_5end
chr18 40857368 40857384 CAGE_peak_6_at_SYT4_5end
chr18 40857389 40857405 CAGE_peak_3_at_SYT4_5end
chr18 40857413 40857422 CAGE_peak_10_at_SYT4_5end
chr18 40857447 40857461 CAGE_peak_1_at_SYT4_5end
chr18 40857470 40857481 CAGE_peak_7_at_SYT4_5end
chr18 40857484 40857491 CAGE_peak_9_at_SYT4_5end
chr18 40857493 40857505 CAGE_peak_4_at_SYT4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I043320 43320402 43320700 0.34 [{'connected_gene': 'SYT4', 'score': 1.79}, {'connected_gene': 'GC18P043280', 'score': 0.26}, {'connected_gene': 'GC18M043391', 'score': 0.19}]
chr18 GH18I043276 43276796 43277745 1.14 [{'connected_gene': 'SYT4', 'score': 550.77}, {'connected_gene': 'GC18P043239', 'score': 0.28}]
chr18 GH18I043237 43237036 43237185 0.2 [{'connected_gene': 'GC18P043239', 'score': 550.77}, {'connected_gene': 'SYT4', 'score': 10.43}, {'connected_gene': 'GC18P043232', 'score': 0.77}]