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
ENST00000281589 [[25670299, 25673389]] [[25670336, 25672232]]
NM_030979 [[25670275, 25672705]] [[25670336, 25672232]]
Promoter
Chrom Start End Description
chr13 25670268 25670315 CAGE_peak_1_at_PABPC3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I024910 24910598 24912012 1.11 [{'connected_gene': 'NUP58', 'score': 6.12}, {'connected_gene': 'MTMR6', 'score': 5.56}, {'connected_gene': 'PARP4', 'score': 1.74}, {'connected_gene': 'PABPC3', 'score': 1.35}, {'connected_gene': 'CENPJ', 'score': 0.39}, {'connected_gene': 'GC13P024795', 'score': 0.1}, {'connected_gene': 'PIR31198', 'score': 0.1}]
chr13 GH13I025899 25899087 25900182 0.2 [{'connected_gene': 'PABPC3', 'score': 5.59}, {'connected_gene': 'PIR50437', 'score': 0.29}, {'connected_gene': 'GC13P025866', 'score': 0.29}, {'connected_gene': 'RN7SL741P', 'score': 0.26}, {'connected_gene': 'ATP8A2', 'score': 0.03}]
chr13 GH13I025892 25892310 25892753 0.31 [{'connected_gene': 'PABPC3', 'score': 5.59}, {'connected_gene': 'PIR50437', 'score': 0.31}, {'connected_gene': 'GC13P025866', 'score': 0.31}, {'connected_gene': 'RN7SL741P', 'score': 0.23}, {'connected_gene': 'ATP8A2', 'score': 0.03}]
chr13 GH13I025095 25095870 25095929 0.5 [{'connected_gene': 'PABPC3', 'score': 550.77}, {'connected_gene': 'LOC105370120', 'score': 550.77}, {'connected_gene': 'ENSG00000279695', 'score': 0.25}]
chr13 GH13I025096 25096089 25096148 0.5 [{'connected_gene': 'PABPC3', 'score': 550.77}, {'connected_gene': 'LOC105370120', 'score': 550.77}, {'connected_gene': 'ENSG00000279695', 'score': 0.25}]
chr13 GH13I026048 26048801 26053130 1.98 [{'connected_gene': 'SHISA2', 'score': 561.57}, {'connected_gene': 'PABPC3', 'score': 5.03}, {'connected_gene': 'LINC00415', 'score': 0.77}, {'connected_gene': 'PIR56473', 'score': 0.21}]
chr13 GH13I025131 25131736 25133201 0.2 [{'connected_gene': 'AMER2', 'score': 19.39}, {'connected_gene': 'RNF17', 'score': 9.74}, {'connected_gene': 'ENSG00000279695', 'score': 0.44}, {'connected_gene': 'PABPC3', 'score': 0.28}]
chr13 GH13I025113 25113823 25115302 0.68 [{'connected_gene': 'AMER2', 'score': 10.97}, {'connected_gene': 'LINC01053', 'score': 10.84}, {'connected_gene': 'LINC00463', 'score': 10.84}, {'connected_gene': 'PABPC3', 'score': 0.37}, {'connected_gene': 'LOC105370120', 'score': 0.37}, {'connected_gene': 'ENSG00000279695', 'score': 0.31}]
chr13 GH13I025115 25115524 25117996 0.88 [{'connected_gene': 'AMER2', 'score': 50.18}, {'connected_gene': 'LINC01053', 'score': 10.84}, {'connected_gene': 'LINC00463', 'score': 10.84}, {'connected_gene': 'PABPC3', 'score': 0.34}, {'connected_gene': 'ENSG00000279695', 'score': 0.34}, {'connected_gene': 'LOC105370120', 'score': 0.34}]
chr13 GH13I025136 25136275 25138151 0.51 [{'connected_gene': 'AMER2', 'score': 19.62}, {'connected_gene': 'LINC01053', 'score': 10.97}, {'connected_gene': 'LINC00463', 'score': 10.97}, {'connected_gene': 'ENSG00000279695', 'score': 0.77}, {'connected_gene': 'PABPC3', 'score': 0.26}]