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
ENST00000344581 [[20896969, 20897560], [20897660, 20897828], [20897953, 20898878], [20903622, 20903801]] [[20897007, 20897560], [20897660, 20897828], [20897953, 20898834]]
NM_001109997 [[20896969, 20897560], [20897660, 20897828], [20897953, 20898878], [20903622, 20903801]] [[20897007, 20897560], [20897660, 20897828], [20897953, 20898834]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I020421 20421362 20421511 0.31 [{'connected_gene': 'TEP1', 'score': 5.54}, {'connected_gene': 'GC14P020415', 'score': 0.44}, {'connected_gene': 'KLHL33', 'score': 0.39}]
chr14 GH14I020414 20414910 20420190 1.27 [{'connected_gene': 'TEP1', 'score': 7.23}, {'connected_gene': 'RNA5SP382', 'score': 0.77}, {'connected_gene': 'GC14P020415', 'score': 0.77}, {'connected_gene': 'KLHL33', 'score': 0.37}]
chr14 GH14I020426 20426762 20429453 1.49 [{'connected_gene': 'OSGEP', 'score': 19.2}, {'connected_gene': 'PNP', 'score': 16.34}, {'connected_gene': 'PIP4P1', 'score': 14.57}, {'connected_gene': 'APEX1', 'score': 12.05}, {'connected_gene': 'RNASE11', 'score': 11.1}, {'connected_gene': 'TEP1', 'score': 7.2}, {'connected_gene': 'KLHL33', 'score': 5.76}, {'connected_gene': 'RNASE6', 'score': 1.85}, {'connected_gene': 'RNASE3', 'score': 1.39}, {'connected_gene': 'GC14P020415', 'score': 0.39}]
chr14 GH14I020424 20424187 20425785 0.2 [{'connected_gene': 'APEX1', 'score': 11.92}, {'connected_gene': 'OSGEP', 'score': 11.92}, {'connected_gene': 'PIP4P1', 'score': 11.9}, {'connected_gene': 'PNP', 'score': 10.97}, {'connected_gene': 'RNASE11', 'score': 10.58}, {'connected_gene': 'TEP1', 'score': 7.07}, {'connected_gene': 'KLHL33', 'score': 5.59}, {'connected_gene': 'GC14P020415', 'score': 0.44}]
chr14 GH14I020434 20434501 20436091 1.08 [{'connected_gene': 'KLHL33', 'score': 561.39}, {'connected_gene': 'TEP1', 'score': 5.42}, {'connected_gene': 'GC14P020415', 'score': 0.34}]