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
ENST00000543880 [[24542949, 24543365], [24543661, 24543752], [24544198, 24544279], [24544740, 24544758], [24544969, 24545059], [24545209, 24545284], [24545421, 24545879]] [[24543226, 24543365], [24543661, 24543752], [24544198, 24544279], [24544740, 24544758], [24544969, 24545059], [24545209, 24545284], [24545421, 24545647]]
ENST00000604921 [[24543212, 24543365], [24543661, 24543752], [24544198, 24544279], [24544969, 24545059], [24545209, 24545284], [24545421, 24545674]] [[24543226, 24543365], [24543661, 24543752], [24544198, 24544279], [24544969, 24545059], [24545209, 24545284], [24545421, 24545647]]
ENST00000418122 [[24543304, 24543365], [24543661, 24543752], [24544198, 24544279], [24544969, 24545059], [24545886, 24545944]] [[24543304, 24543365], [24543661, 24543752], [24544198, 24544279], [24544969, 24545059], [24545886, 24545944]]
NM_001271706 [[24543212, 24543365], [24543661, 24543752], [24544198, 24544279], [24544969, 24545059], [24545209, 24545284], [24545421, 24545674]] [[24543226, 24543365], [24543661, 24543752], [24544198, 24544279], [24544969, 24545059], [24545209, 24545284], [24545421, 24545647]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I024509 24509474 24510567 0.2 [{'connected_gene': 'IZUMO3', 'score': 11.24}, {'connected_gene': 'GC09P024502', 'score': 0.44}, {'connected_gene': 'LOC105375994', 'score': 0.34}]
chr9 GH09I024572 24572043 24573161 0.2 [{'connected_gene': 'IZUMO3', 'score': 12.34}, {'connected_gene': 'GC09P024602', 'score': 0.31}, {'connected_gene': 'ENSG00000269957', 'score': 0.31}]
chr9 GH09I024479 24479097 24480265 0.2 [{'connected_gene': 'IZUMO3', 'score': 10.99}, {'connected_gene': 'GC09P024502', 'score': 0.34}, {'connected_gene': 'PIR35899', 'score': 0.1}]