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
ENST00000468311 [[161070345, 161070649], [161087741, 161087845]] None
ENST00000368010 [[161070345, 161070649], [161071837, 161071961], [161072076, 161072165], [161087741, 161087901]] [[161070472, 161070649], [161071837, 161071961], [161072076, 161072165], [161087741, 161087816]]
NM_012394 [[161070345, 161070649], [161071837, 161071961], [161072076, 161072165], [161087741, 161087866]] [[161070472, 161070649], [161071837, 161071961], [161072076, 161072165], [161087741, 161087816]]
Promoter
Chrom Start End Description
chr1 161087802 161087860 CAGE_peak_1_at_PFDN2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I161111 161111401 161111800 0.2 [{'connected_gene': 'PFDN2', 'score': 0.44}, {'connected_gene': 'NIT1', 'score': 0.44}, {'connected_gene': 'PIR38957', 'score': 0.39}, {'connected_gene': 'GC01P161100', 'score': 0.39}]
chr1 GH01I161113 161113988 161122541 2.5 [{'connected_gene': 'NIT1', 'score': 560.03}, {'connected_gene': 'PFDN2', 'score': 550.77}, {'connected_gene': 'PIR38070', 'score': 550.77}, {'connected_gene': 'RPSAP18', 'score': 14.02}, {'connected_gene': 'DUSP12', 'score': 11.42}, {'connected_gene': 'B4GALT3', 'score': 10.1}, {'connected_gene': 'OLFML2B', 'score': 9.68}, {'connected_gene': 'F11R', 'score': 8.7}, {'connected_gene': 'HSPA6', 'score': 5.79}, {'connected_gene': 'PIR41247', 'score': 0.77}, {'connected_gene': 'PIR51486', 'score': 0.77}, {'connected_gene': 'DEDD', 'score': 0.39}]

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