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
ENST00000304749 [[23728189, 23728536], [23729652, 23729766], [23731275, 23731574]] [[23728452, 23728536], [23729652, 23729766], [23731275, 23731503]]
ENST00000398402 [[23728367, 23728536], [23729652, 23729766], [23731275, 23731535], [23731793, 23731905]] [[23728452, 23728536], [23729652, 23729766], [23731275, 23731503]]
NM_001898 [[23728189, 23728536], [23729652, 23729766], [23731275, 23731574]] [[23728452, 23728536], [23729652, 23729766], [23731275, 23731503]]
Promoter
Chrom Start End Description
chr20 23731302 23731327 CAGE_peak_2_at_CST1_5end
chr20 23731328 23731340 CAGE_peak_3_at_CST1_5end
chr20 23731397 23731434 CAGE_peak_1_at_CST1_5end
chr20 23731569 23731573 CAGE_peak_5_at_CST1_5end
chr20 23731893 23731920 CAGE_peak_4_at_CST1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I023764 23764669 23765232 0.31 [{'connected_gene': 'CST3', 'score': 5.94}, {'connected_gene': 'PIR40448', 'score': 0.44}, {'connected_gene': 'CST1', 'score': 0.39}]
chr20 GH20I023754 23754613 23755785 0.66 [{'connected_gene': 'CST3', 'score': 5.74}, {'connected_gene': 'CST1', 'score': 0.77}, {'connected_gene': 'PIR40448', 'score': 0.37}]
chr20 GH20I023750 23750925 23750984 0.5 [{'connected_gene': 'CST1', 'score': 576.06}, {'connected_gene': 'PIR41587', 'score': 0.77}]
chr20 GH20I023692 23692603 23693896 0.66 [{'connected_gene': 'CST9', 'score': 10.03}, {'connected_gene': 'CST1', 'score': 9.24}, {'connected_gene': 'CST3', 'score': 7.32}, {'connected_gene': 'CST4', 'score': 0.77}, {'connected_gene': 'CST2P1', 'score': 0.37}]