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
ENST00000368804 [[152078792, 152085554], [152086418, 152086556]] [[152079860, 152085554], [152086418, 152086556]]
NM_007113 [[152078792, 152085554], [152086418, 152086587], [152087866, 152087930]] [[152079860, 152085554], [152086418, 152086556]]
Promoter
Chrom Start End Description
chr1 152087919 152087921 CAGE_peak_1_at_TCHH_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I152070 152070976 152071834 0.79 [{'connected_gene': 'S100A11', 'score': 12.48}, {'connected_gene': 'TCHH', 'score': 11.67}, {'connected_gene': 'ENSG00000226716', 'score': 11.64}, {'connected_gene': 'PUDPP2', 'score': 11.54}, {'connected_gene': 'FLG', 'score': 9.77}, {'connected_gene': 'SPTLC1P4', 'score': 0.44}, {'connected_gene': 'LOC101927949', 'score': 0.34}]
chr1 GH01I152143 152143715 152143898 0.34 [{'connected_gene': 'HRNR', 'score': 16.95}, {'connected_gene': 'ENSG00000226716', 'score': 12.27}, {'connected_gene': 'TCHH', 'score': 12.24}, {'connected_gene': 'PUDPP2', 'score': 12.16}, {'connected_gene': 'S100A11', 'score': 10.67}, {'connected_gene': 'TCHHL1', 'score': 10.3}, {'connected_gene': 'ENSG00000229021', 'score': 8.03}, {'connected_gene': 'LCE3A', 'score': 1.29}, {'connected_gene': 'RPTN', 'score': 0.37}]
chr1 GH01I152107 152107705 152112719 1.17 [{'connected_gene': 'POGZ', 'score': 49.52}, {'connected_gene': 'PI4KB', 'score': 49.33}, {'connected_gene': 'PIP5K1A', 'score': 47.75}, {'connected_gene': 'MRPL9', 'score': 37.77}, {'connected_gene': 'HRNR', 'score': 24.97}, {'connected_gene': 'LYSMD1', 'score': 23.52}, {'connected_gene': 'ZNF687', 'score': 21.53}, {'connected_gene': 'ENSG00000229021', 'score': 16.87}, {'connected_gene': 'RN7SL444P', 'score': 9.76}, {'connected_gene': 'TCHH', 'score': 5.79}, {'connected_gene': 'PIR33217', 'score': 0.77}, {'connected_gene': 'TCHHL1', 'score': 0.34}]
chr1 GH01I152115 152115434 152115493 0.5 [{'connected_gene': 'PIR33217', 'score': 550.77}, {'connected_gene': 'TCHH', 'score': 550.77}, {'connected_gene': 'GC01P152119', 'score': 0.77}]
chr1 GH01I152229 152229005 152229114 0.31 [{'connected_gene': 'ENSG00000236427', 'score': 11.21}, {'connected_gene': 'FLG', 'score': 9.97}, {'connected_gene': 'TCHH', 'score': 9.79}, {'connected_gene': 'FLG2', 'score': 9.62}, {'connected_gene': 'HRNR', 'score': 0.77}, {'connected_gene': 'FLG-AS1', 'score': 0.21}, {'connected_gene': 'PIR46233', 'score': 0.19}]