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
ENST00000309534 [[88101093, 88105149], [88107168, 88107373], [88107964, 88108198]] [[88104622, 88105126]]
ENST00000398392 [[88101161, 88106459]] [[88104622, 88105126]]
ENST00000482016 [[88104563, 88105149], [88106340, 88106442], [88107168, 88107373], [88107964, 88108218]] [[88104622, 88105126]]
ENST00000462901 [[88104575, 88105149], [88107168, 88107373], [88190119, 88190228], [88198860, 88199035]] [[88104622, 88105126]]
ENST00000467332 [[88104807, 88105149], [88190119, 88190228], [88198860, 88198965]] [[88104807, 88105126]]
ENST00000474441 [[88106787, 88107373], [88107964, 88108095]] None
NM_001008390 [[88101099, 88105149], [88106340, 88106442], [88107168, 88107373], [88107964, 88108146]] [[88104622, 88105126]]
NM_003663 [[88101099, 88105149], [88107168, 88107373], [88107964, 88108146]] [[88104622, 88105126]]
NM_001195308 [[88101099, 88105149], [88107168, 88107373], [88190119, 88190228], [88198860, 88199016]] [[88104622, 88105126]]
Promoter
Chrom Start End Description
chr3 88108083 88108179 CAGE_peak_1_at_CGGBP1_5end
chr3 88108192 88108203 CAGE_peak_5_at_CGGBP1_5end
chr3 88108212 88108223 CAGE_peak_3_at_CGGBP1_5end
chr3 88199008 88199035 CAGE_peak_2_at_CGGBP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I088030 88030106 88030800 1.04 [{'connected_gene': 'CGGBP1', 'score': 8.61}, {'connected_gene': 'ZNF654', 'score': 4.84}, {'connected_gene': 'C3orf38', 'score': 2.15}, {'connected_gene': 'GC03P088032', 'score': 0.77}, {'connected_gene': 'RNU6ATAC6P', 'score': 0.13}]
chr3 GH03I088140 88140784 88143559 0.86 [{'connected_gene': 'CGGBP1', 'score': 11.11}, {'connected_gene': 'ZNF654', 'score': 8.65}, {'connected_gene': 'C3orf38', 'score': 0.44}, {'connected_gene': 'GC03P088128', 'score': 0.39}, {'connected_gene': 'GC03P088045', 'score': 0.15}]
chr3 GH03I088057 88057070 88061103 2.23 [{'connected_gene': 'CGGBP1', 'score': 591.54}, {'connected_gene': 'ZNF654', 'score': 569.26}, {'connected_gene': 'C3orf38', 'score': 11.24}, {'connected_gene': 'GC03P088045', 'score': 0.39}]
chr3 GH03I087804 87804937 87805953 0.46 [{'connected_gene': 'CGGBP1', 'score': 7.78}, {'connected_gene': 'HTR1F', 'score': 5.64}, {'connected_gene': 'LOC105377198', 'score': 0.39}, {'connected_gene': 'PIR56827', 'score': 0.15}]
chr3 GH03I087996 87996801 87997800 0.85 [{'connected_gene': 'CGGBP1', 'score': 5.29}, {'connected_gene': 'C3orf38', 'score': 1.87}, {'connected_gene': 'ZNF654', 'score': 1.55}, {'connected_gene': 'GC03P088032', 'score': 0.28}, {'connected_gene': 'RNU6ATAC6P', 'score': 0.17}]
chr3 GH03I088148 88148330 88151977 2.08 [{'connected_gene': 'CGGBP1', 'score': 566.29}, {'connected_gene': 'C3orf38', 'score': 550.77}, {'connected_gene': 'ZNF654', 'score': 19.97}, {'connected_gene': 'GC03P088161', 'score': 0.39}, {'connected_gene': 'GC03P088045', 'score': 0.14}]
chr3 GH03I087969 87969461 87970432 0.38 [{'connected_gene': 'CGGBP1', 'score': 8.59}, {'connected_gene': 'RNU6ATAC6P', 'score': 0.22}, {'connected_gene': 'GC03P088032', 'score': 0.21}, {'connected_gene': 'HTR1F', 'score': 0.1}]
chr3 GH03I087859 87859001 87859200 0.2 [{'connected_gene': 'CGGBP1', 'score': 8.73}, {'connected_gene': 'PIR56827', 'score': 0.26}, {'connected_gene': 'LOC105377198', 'score': 0.2}, {'connected_gene': 'HTR1F', 'score': 0.2}]
chr3 GH03I088064 88064311 88064960 0.2 [{'connected_gene': 'ZNF654', 'score': 8.37}, {'connected_gene': 'GC03P088045', 'score': 0.37}, {'connected_gene': 'GC03M088095', 'score': 0.29}, {'connected_gene': 'CGGBP1', 'score': 0.17}]
chr3 GH03I088051 88051986 88052796 0.2 [{'connected_gene': 'ZNF654', 'score': 8.56}, {'connected_gene': 'GC03P088045', 'score': 0.44}, {'connected_gene': 'CGGBP1', 'score': 0.15}]
chr3 GH03I088152 88152801 88153400 0.38 [{'connected_gene': 'ZNF654', 'score': 8.54}, {'connected_gene': 'C3orf38', 'score': 0.77}, {'connected_gene': 'CGGBP1', 'score': 0.77}, {'connected_gene': 'GC03P088161', 'score': 0.44}, {'connected_gene': 'GC03P088045', 'score': 0.14}]
chr3 GH03I088139 88139092 88139151 0.5 [{'connected_gene': 'ZNF654', 'score': 550.18}, {'connected_gene': 'C3orf38', 'score': 0.39}, {'connected_gene': 'CGGBP1', 'score': 0.39}, {'connected_gene': 'GC03P088128', 'score': 0.39}, {'connected_gene': 'GC03P088045', 'score': 0.16}]
chr3 GH03I087800 87800054 87801939 0.95 [{'connected_gene': 'HTR1F', 'score': 9.09}, {'connected_gene': 'CGGBP1', 'score': 5.98}, {'connected_gene': 'LOC105377198', 'score': 0.44}, {'connected_gene': 'PIR56827', 'score': 0.15}]
chr3 GH03I087795 87795169 87799379 1.35 [{'connected_gene': 'HTR1F', 'score': 9.35}, {'connected_gene': 'CGGBP1', 'score': 5.22}, {'connected_gene': 'LOC105377198', 'score': 0.77}, {'connected_gene': 'PIR56827', 'score': 0.15}]
chr3 GH03I087791 87791898 87794827 1.28 [{'connected_gene': 'HTR1F', 'score': 558.9}, {'connected_gene': 'LOC105377198', 'score': 550.77}, {'connected_gene': 'CGGBP1', 'score': 56.5}, {'connected_gene': 'ZNF654', 'score': 52.22}, {'connected_gene': 'VGLL3', 'score': 10.66}]
chr3 GH03I088113 88113691 88113840 0.52 [{'connected_gene': 'C3orf38', 'score': 11.91}, {'connected_gene': 'CGGBP1', 'score': 11.91}, {'connected_gene': 'ZNF654', 'score': 8.17}, {'connected_gene': 'GC03P088128', 'score': 0.39}, {'connected_gene': 'CBX5P1', 'score': 0.37}, {'connected_gene': 'GC03P088045', 'score': 0.2}]
chr3 GH03I088038 88038711 88038860 0.2 [{'connected_gene': 'C3orf38', 'score': 11.0}, {'connected_gene': 'CGGBP1', 'score': 11.0}, {'connected_gene': 'GC03P088045', 'score': 0.44}, {'connected_gene': 'GC03P088032', 'score': 0.44}]
chr3 GH03I088031 88031171 88033381 1.05 [{'connected_gene': 'GC03P088032', 'score': 550.77}, {'connected_gene': 'CGGBP1', 'score': 8.26}, {'connected_gene': 'HTR1F', 'score': 4.45}, {'connected_gene': 'RNU6ATAC6P', 'score': 0.13}]
chr3 GH03I088033 88033618 88034957 0.87 [{'connected_gene': 'GC03P088032', 'score': 550.77}, {'connected_gene': 'CGGBP1', 'score': 19.45}, {'connected_gene': 'HTR1F', 'score': 4.45}, {'connected_gene': 'GC03P088045', 'score': 0.39}]
chr3 GH03I088159 88159770 88160187 0.28 [{'connected_gene': 'GC03P088161', 'score': 550.77}, {'connected_gene': 'ZNF654', 'score': 8.5}, {'connected_gene': 'C3orf38', 'score': 2.05}, {'connected_gene': 'CGGBP1', 'score': 1.79}, {'connected_gene': 'GC03P088045', 'score': 0.13}]