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
ENST00000217423 [[23666276, 23666614], [23667724, 23667838], [23669378, 23669677]] [[23666530, 23666614], [23667724, 23667838], [23669378, 23669606]]
NM_001899 [[23666276, 23666614], [23667724, 23667838], [23669378, 23669662]] [[23666530, 23666614], [23667724, 23667838], [23669378, 23669606]]
Promoter
Chrom Start End Description
chr20 23669412 23669435 CAGE_peak_3_at_CST4_5end
chr20 23669439 23669451 CAGE_peak_7_at_CST4_5end
chr20 23669519 23669536 CAGE_peak_2_at_CST4_5end
chr20 23669548 23669561 CAGE_peak_4_at_CST4_5end
chr20 23669565 23669574 CAGE_peak_6_at_CST4_5end
chr20 23669581 23669582 CAGE_peak_11_at_CST4_5end
chr20 23669586 23669589 CAGE_peak_8_at_CST4_5end
chr20 23669590 23669615 CAGE_peak_1_at_CST4_5end
chr20 23669996 23670023 CAGE_peak_5_at_CST4_5end
chr20 23670122 23670133 CAGE_peak_9_at_CST4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I023689 23689028 23689087 0.5 [{'connected_gene': 'CST4', 'score': 550.77}, {'connected_gene': 'CST2P1', 'score': 0.34}]
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}]
chr20 GH20I023704 23704377 23704420 0.22 [{'connected_gene': 'CST9', 'score': 2.02}, {'connected_gene': 'CST2P1', 'score': 0.44}, {'connected_gene': 'CST4', 'score': 0.37}]