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
ENST00000366796 [[168693509, 168694621], [168694812, 168694877], [168695312, 168695384], [168710847, 168711126], [168711831, 168711964], [168720067, 168720434]] [[168694573, 168694621], [168694812, 168694877], [168695312, 168695384], [168710847, 168711126], [168711831, 168711964], [168720067, 168720313]]
ENST00000366795 [[168707583, 168709778], [168710847, 168711126], [168711831, 168711964], [168720067, 168720402]] [[168708111, 168709778], [168710847, 168711126], [168711831, 168711964], [168720067, 168720313]]
ENST00000607983 [[168707902, 168709383], [168720251, 168720390]] [[168708111, 168709212]]
ENST00000610183 [[168707902, 168709778], [168710847, 168711002], [168720333, 168720390]] [[168708111, 168709778], [168710847, 168710995]]
NM_001286351 [[168693509, 168694621], [168694812, 168694877], [168695312, 168695384], [168710847, 168711126], [168711831, 168711964], [168720067, 168720434]] [[168694573, 168694621], [168694812, 168694877], [168695312, 168695384], [168710847, 168711126], [168711831, 168711964], [168720067, 168720313]]
NM_214462 [[168707583, 168709778], [168710847, 168711126], [168711831, 168711964], [168720067, 168720434]] [[168708111, 168709778], [168710847, 168711126], [168711831, 168711964], [168720067, 168720313]]
NR_104425 [[168707583, 168709383], [168720251, 168720434]] None
NM_001286350 [[168707583, 168709778], [168710847, 168711002], [168720333, 168720434]] [[168708111, 168709778], [168710847, 168710995]]
Promoter
Chrom Start End Description
chr6 168720382 168720422 CAGE_peak_1_at_DACT2_5end
chr6 168720425 168720437 CAGE_peak_6_at_DACT2_5end
chr6 168720445 168720463 CAGE_peak_4_at_DACT2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I168325 168325628 168327986 0.91 [{'connected_gene': 'DACT2', 'score': 27.24}, {'connected_gene': 'LOC105378139', 'score': 0.44}]
chr6 GH06I168369 168369945 168370642 0.79 [{'connected_gene': 'DACT2', 'score': 22.02}, {'connected_gene': 'ENSG00000260771', 'score': 0.77}, {'connected_gene': 'LOC105378139', 'score': 0.28}]
chr6 GH06I168333 168331621 168332770 0.57 [{'connected_gene': 'DACT2', 'score': 17.39}, {'connected_gene': 'LOC105378139', 'score': 0.77}]
chr6 GH06I168319 168319400 168320001 1.31 [{'connected_gene': 'DACT2', 'score': 567.8}, {'connected_gene': 'LOC105378138', 'score': 0.37}]
chr6 GH06I168316 168316049 168316108 0.5 [{'connected_gene': 'DACT2', 'score': 550.77}, {'connected_gene': 'LOC105378138', 'score': 0.39}]
chr6 GH06I168318 168318141 168319307 0.66 [{'connected_gene': 'DACT2', 'score': 566.98}, {'connected_gene': 'LOC105378138', 'score': 0.37}]
chr6 GH06I168314 168314501 168315829 0.49 [{'connected_gene': 'DACT2', 'score': 0.77}, {'connected_gene': 'LOC105378138', 'score': 0.39}]
chr6 GH06I168312 168312859 168314445 0.46 [{'connected_gene': 'DACT2', 'score': 6.08}, {'connected_gene': 'LOC105378138', 'score': 0.39}]
chr6 GH06I168332 168332919 168334750 0.62 [{'connected_gene': 'LOC105378139', 'score': 550.77}, {'connected_gene': 'DACT2', 'score': 20.92}, {'connected_gene': 'SMOC2', 'score': 11.01}]
chr6 GH06I168331 168331325 168331350 0.72 [{'connected_gene': 'LOC105378139', 'score': 0.77}, {'connected_gene': 'DACT2', 'score': 0.39}]
chr6 GH06I168305 168305221 168305370 0.31 [{'connected_gene': 'LOC105378138', 'score': 0.77}, {'connected_gene': 'DACT2', 'score': 0.39}]
chr6 GH06I168301 168301112 168303598 0.9 [{'connected_gene': 'LOC105378138', 'score': 550.77}, {'connected_gene': 'DACT2', 'score': 0.37}]

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