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
ENST00000308618 [[176942199, 176945566], [176946905, 176947177], [176948077, 176948641]] [[176944834, 176945566], [176946905, 176947177], [176948077, 176948504]]
NM_001080458 [[176944834, 176945566], [176946905, 176947177], [176948077, 176948690]] [[176944834, 176945566], [176946905, 176947177], [176948077, 176948504]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I176075 176075342 176076682 1.12 [{'connected_gene': 'LNPK', 'score': 8.12}, {'connected_gene': 'EVX2', 'score': 0.44}, {'connected_gene': 'GC02M176020', 'score': 0.22}]
chr2 GH02I176078 176078564 176078866 0.72 [{'connected_gene': 'EVX2', 'score': 0.44}, {'connected_gene': 'GC02M176020', 'score': 0.22}]
chr2 GH02I176080 176080053 176080142 0.8 [{'connected_gene': 'EVX2', 'score': 0.44}, {'connected_gene': 'GC02M176020', 'score': 0.22}]
chr2 GH02I176073 176073451 176073970 0.76 [{'connected_gene': 'HOXD11', 'score': 11.35}, {'connected_gene': 'HOXD12', 'score': 11.34}, {'connected_gene': 'HOXD10', 'score': 11.34}, {'connected_gene': 'HOXD1', 'score': 10.14}, {'connected_gene': 'HAGLR', 'score': 10.13}, {'connected_gene': 'LNPK', 'score': 4.46}, {'connected_gene': 'EVX2', 'score': 0.39}, {'connected_gene': 'GC02M176020', 'score': 0.23}]