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
ENST00000359039 [[21329669, 21335379]] [[21333004, 21334858]]
ENST00000537938 [[21331544, 21334658], [21335095, 21335240]] [[21333004, 21334654]]
NM_018847 [[21329669, 21335431]] [[21333004, 21334858]]
Promoter
Chrom Start End Description
chr9 21335339 21335355 CAGE_peak_2_at_KLHL9_5end
chr9 21335356 21335411 CAGE_peak_1_at_KLHL9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I021989 21989562 21990800 1.16 [{'connected_gene': 'KLHL9', 'score': 19.37}, {'connected_gene': 'CDKN2A-AS1', 'score': 13.13}, {'connected_gene': 'UBA52P6', 'score': 12.6}, {'connected_gene': 'ENSG00000265194', 'score': 12.0}, {'connected_gene': 'MTAP', 'score': 11.15}, {'connected_gene': 'CDKN2B', 'score': 4.93}, {'connected_gene': 'CDKN2B-AS1', 'score': 0.77}, {'connected_gene': 'CDKN2A', 'score': 0.44}, {'connected_gene': 'GC09M021977', 'score': 0.39}, {'connected_gene': 'PIR47863', 'score': 0.39}, {'connected_gene': 'ENSG00000264545', 'score': 0.09}]
chr9 GH09I021326 21326662 21326811 0.6 [{'connected_gene': 'KLHL9', 'score': 0.44}, {'connected_gene': 'IFNA20P', 'score': 0.44}]
chr9 GH09I021334 21334164 21336011 1.94 [{'connected_gene': 'KLHL9', 'score': 550.77}, {'connected_gene': 'IFNA13', 'score': 12.02}, {'connected_gene': 'IFNA5', 'score': 11.16}, {'connected_gene': 'IFNA12P', 'score': 11.08}, {'connected_gene': 'IFNA8', 'score': 11.07}, {'connected_gene': 'IFNWP2', 'score': 11.05}, {'connected_gene': 'IFNA20P', 'score': 0.39}]
chr9 GH09I021333 21333922 21334071 0.2 [{'connected_gene': 'KLHL9', 'score': 550.77}, {'connected_gene': 'IFNA13', 'score': 11.8}, {'connected_gene': 'IFNA5', 'score': 11.16}, {'connected_gene': 'IFNA12P', 'score': 11.08}, {'connected_gene': 'IFNA8', 'score': 11.06}, {'connected_gene': 'IFNWP2', 'score': 11.05}, {'connected_gene': 'IFNA20P', 'score': 0.39}]
chr9 GH09I022208 22208554 22213035 0.96 [{'connected_gene': 'KLHL9', 'score': 20.86}, {'connected_gene': 'ENSG00000265194', 'score': 10.59}, {'connected_gene': 'ENSG00000224549', 'score': 5.29}, {'connected_gene': 'ENSG00000236921', 'score': 0.77}, {'connected_gene': 'GC09M022195', 'score': 0.77}]
chr9 GH09I020619 20619752 20625051 1.99 [{'connected_gene': 'MLLT3', 'score': 556.39}, {'connected_gene': 'KLHL9', 'score': 23.36}, {'connected_gene': 'FOCAD', 'score': 11.63}, {'connected_gene': 'IFNA20P', 'score': 10.09}, {'connected_gene': 'RPL7AP48', 'score': 0.17}]
chr9 GH09I021350 21350946 21351005 0.5 [{'connected_gene': 'IFNA6', 'score': 550.77}, {'connected_gene': 'IFNA12P', 'score': 11.63}, {'connected_gene': 'IFNA8', 'score': 11.62}, {'connected_gene': 'IFNWP2', 'score': 11.6}, {'connected_gene': 'KLHL9', 'score': 0.37}]
chr9 GH09I021653 21653395 21653678 0.33 [{'connected_gene': 'IFNA1', 'score': 16.7}, {'connected_gene': 'IFNA6', 'score': 11.03}, {'connected_gene': 'KLHL9', 'score': 1.41}, {'connected_gene': 'ENSG00000227443', 'score': 0.37}, {'connected_gene': 'KHSRPP1', 'score': 0.26}]
chr9 GH09I022116 22116508 22119608 1.36 [{'connected_gene': 'ENSG00000277653', 'score': 550.77}, {'connected_gene': 'MTAP', 'score': 21.78}, {'connected_gene': 'ENSG00000265194', 'score': 11.94}, {'connected_gene': 'KLHL9', 'score': 11.39}, {'connected_gene': 'CDKN2A', 'score': 10.78}, {'connected_gene': 'CDKN2B-AS1', 'score': 10.78}, {'connected_gene': 'GC09M022195', 'score': 0.17}]