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
ENST00000357001 [[42628361, 42628641], [42629073, 42629281], [42630308, 42630389]] [[42628576, 42628641], [42629073, 42629281], [42630308, 42630383]]
NM_033553 [[42628361, 42628641], [42629073, 42629281], [42630308, 42630395]] [[42628576, 42628641], [42629073, 42629281], [42630308, 42630383]]
Promoter
Chrom Start End Description
chr1 42630408 42630425 CAGE_peak_1_at_GUCA2A_5end
chr1 42630460 42630471 CAGE_peak_2_at_GUCA2A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I042164 42164323 42166706 1.65 [{'connected_gene': 'GC01P042164', 'score': 550.77}, {'connected_gene': 'GUCA2A', 'score': 550.77}, {'connected_gene': 'PPIH', 'score': 28.01}, {'connected_gene': 'FOXJ3', 'score': 24.84}, {'connected_gene': 'P3H1', 'score': 22.18}, {'connected_gene': 'CCDC30', 'score': 11.94}, {'connected_gene': 'ZNF691', 'score': 11.62}, {'connected_gene': 'SCMH1', 'score': 10.79}, {'connected_gene': 'ENSG00000227527', 'score': 10.12}, {'connected_gene': 'GC01M042279', 'score': 0.14}, {'connected_gene': 'PIR49391', 'score': 0.14}]