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
ENST00000372044 [[46085715, 46086105], [46086394, 46086505], [46086574, 46086785], [46086952, 46087156], [46087309, 46087407], [46087548, 46087667], [46087912, 46088020], [46088220, 46088339], [46088422, 46088506], [46088626, 46088789], [46089407, 46089673]] [[46088783, 46088789], [46089407, 46089581]]
ENST00000482416 [[46085715, 46086105], [46086394, 46086505], [46086574, 46087667], [46087912, 46088020], [46088220, 46088339], [46088422, 46088506], [46088626, 46089709]] None
ENST00000491755 [[46085715, 46086105], [46086394, 46086505], [46086574, 46086785], [46086952, 46087156], [46087229, 46087407], [46087548, 46087667], [46087912, 46088020], [46088220, 46088339], [46088422, 46088506], [46088626, 46089324], [46089407, 46089712]] None
ENST00000421127 [[46085716, 46086105], [46086394, 46086505], [46086574, 46086785], [46086952, 46087156], [46087309, 46087407], [46087548, 46087667], [46087912, 46088020], [46088220, 46088339], [46088422, 46088506], [46088626, 46088789], [46088888, 46089084], [46089228, 46089324], [46089407, 46089725]] [[46085946, 46086105], [46086394, 46086505], [46086574, 46086785], [46086952, 46087156], [46087309, 46087407], [46087548, 46087667], [46087912, 46088020], [46088220, 46088339], [46088422, 46088506], [46088626, 46088789], [46088888, 46089084], [46089228, 46089324], [46089407, 46089581]]
ENST00000343901 [[46085716, 46086105], [46086394, 46086505], [46086574, 46086785], [46086952, 46087156], [46087309, 46087407], [46087548, 46087667], [46087912, 46088020], [46088220, 46088339], [46088422, 46088506], [46088626, 46088789], [46088888, 46089111], [46089407, 46089729]] [[46085946, 46086105], [46086394, 46086505], [46086574, 46086785], [46086952, 46087156], [46087309, 46087407], [46087548, 46087667], [46087912, 46088020], [46088220, 46088339], [46088422, 46088506], [46088626, 46088789], [46088888, 46089111], [46089407, 46089581]]
ENST00000528266 [[46085782, 46086105], [46086394, 46086505], [46086574, 46086785], [46086952, 46087156], [46087309, 46087407], [46087548, 46087667], [46087912, 46088020], [46088220, 46088339], [46088422, 46088506], [46088626, 46088789], [46088888, 46089111], [46089228, 46089324], [46089407, 46089729]] [[46085946, 46086105], [46086394, 46086505], [46086574, 46086785], [46086952, 46087156], [46087309, 46087407], [46087548, 46087667], [46087912, 46088020], [46088220, 46088339], [46088422, 46088506], [46088626, 46088789], [46088888, 46089111], [46089228, 46089324], [46089407, 46089581]]
ENST00000445048 [[46085894, 46086105], [46089407, 46089639]] [[46085946, 46086105], [46089407, 46089581]]
ENST00000479529 [[46086024, 46086105], [46086199, 46086505], [46086574, 46086785], [46086952, 46087156], [46087309, 46087407], [46087548, 46087667], [46087912, 46088020], [46088220, 46088339], [46088422, 46088506], [46088626, 46088789], [46088888, 46089111], [46089407, 46089729]] [[46086313, 46086505], [46086574, 46086785], [46086952, 46087156], [46087309, 46087407], [46087548, 46087667], [46087912, 46088020], [46088220, 46088339], [46088422, 46088506], [46088626, 46088789], [46088888, 46089111], [46089407, 46089581]]
ENST00000464739 [[46086665, 46086785], [46088220, 46088339], [46088422, 46088445]] None
ENST00000525599 [[46087952, 46088020], [46088220, 46088339], [46088422, 46089324], [46089407, 46089721]] None
NM_001114938 [[46085715, 46086105], [46086394, 46086505], [46086574, 46086785], [46086952, 46087156], [46087309, 46087407], [46087548, 46087667], [46087912, 46088020], [46088220, 46088339], [46088422, 46088506], [46088626, 46088789], [46088888, 46089111], [46089228, 46089324], [46089407, 46089731]] [[46085946, 46086105], [46086394, 46086505], [46086574, 46086785], [46086952, 46087156], [46087309, 46087407], [46087548, 46087667], [46087912, 46088020], [46088220, 46088339], [46088422, 46088506], [46088626, 46088789], [46088888, 46089111], [46089228, 46089324], [46089407, 46089581]]
NM_001190182 [[46085715, 46086105], [46086394, 46086505], [46086574, 46086785], [46086952, 46087156], [46087309, 46087407], [46087548, 46087667], [46087912, 46088020], [46088220, 46088339], [46088422, 46088506], [46088626, 46088789], [46088888, 46089084], [46089228, 46089324], [46089407, 46089731]] [[46085946, 46086105], [46086394, 46086505], [46086574, 46086785], [46086952, 46087156], [46087309, 46087407], [46087548, 46087667], [46087912, 46088020], [46088220, 46088339], [46088422, 46088506], [46088626, 46088789], [46088888, 46089084], [46089228, 46089324], [46089407, 46089581]]
Promoter
Chrom Start End Description
chr1 46089703 46089714 CAGE_peak_2_at_CCDC17_5end
chr1 46089718 46089734 CAGE_peak_1_at_CCDC17_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I045520 45520000 45523699 2.15 [{'connected_gene': 'PRDX1', 'score': 576.06}, {'connected_gene': 'CCDC163', 'score': 98.48}, {'connected_gene': 'TOE1', 'score': 76.85}, {'connected_gene': 'LRRC41', 'score': 65.93}, {'connected_gene': 'MUTYH', 'score': 54.01}, {'connected_gene': 'GPBP1L1', 'score': 49.18}, {'connected_gene': 'RPS8', 'score': 31.05}, {'connected_gene': 'RPL7AP16', 'score': 26.87}, {'connected_gene': 'NASP', 'score': 21.87}, {'connected_gene': 'ZSWIM5', 'score': 20.79}, {'connected_gene': 'HECTD3', 'score': 19.99}, {'connected_gene': 'PTCH2', 'score': 14.15}, {'connected_gene': 'AKR1A1', 'score': 13.34}, {'connected_gene': 'RPS15AP10', 'score': 12.09}, {'connected_gene': 'NSUN4', 'score': 10.24}, {'connected_gene': 'CCDC17', 'score': 10.19}, {'connected_gene': 'MMACHC', 'score': 4.66}, {'connected_gene': 'PIR60929', 'score': 0.44}]
chr1 GH01I045519 45519005 45519568 0.54 [{'connected_gene': 'PRDX1', 'score': 26.06}, {'connected_gene': 'AKR1A1', 'score': 12.75}, {'connected_gene': 'CCDC17', 'score': 10.18}, {'connected_gene': 'GPBP1L1', 'score': 10.14}, {'connected_gene': 'PIR60929', 'score': 0.77}]
chr1 GH01I045621 45621401 45622000 0.46 [{'connected_gene': 'IPP', 'score': 7.04}, {'connected_gene': 'CCDC17', 'score': 0.77}, {'connected_gene': 'ENSG00000281825', 'score': 0.37}]
chr1 GH01I045607 45607294 45609908 0.63 [{'connected_gene': 'MAST2', 'score': 21.16}, {'connected_gene': 'GPBP1L1', 'score': 11.69}, {'connected_gene': 'TMEM69', 'score': 11.69}, {'connected_gene': 'HMGB1P48', 'score': 10.39}, {'connected_gene': 'PRDX1', 'score': 10.37}, {'connected_gene': 'ENSG00000281825', 'score': 0.77}, {'connected_gene': 'CCDC17', 'score': 0.37}, {'connected_gene': 'NASP', 'score': 0.34}]
chr1 GH01I045657 45657611 45659158 0.85 [{'connected_gene': 'MAST2', 'score': 23.75}, {'connected_gene': 'GPBP1L1', 'score': 12.43}, {'connected_gene': 'CCDC17', 'score': 12.41}, {'connected_gene': 'IPP', 'score': 8.93}, {'connected_gene': 'ZSWIM5', 'score': 5.04}, {'connected_gene': 'RPL7AP16', 'score': 0.44}, {'connected_gene': 'TMEM69', 'score': 0.31}]
chr1 GH01I045801 45801943 45805585 2.28 [{'connected_gene': 'MAST2', 'score': 577.13}, {'connected_gene': 'GPBP1L1', 'score': 31.95}, {'connected_gene': 'CCDC163', 'score': 29.12}, {'connected_gene': 'EFCAB14-AS1', 'score': 25.23}, {'connected_gene': 'RPL7AP16', 'score': 24.92}, {'connected_gene': 'TOE1', 'score': 22.58}, {'connected_gene': 'LRRC41', 'score': 13.6}, {'connected_gene': 'MOB3C', 'score': 12.14}, {'connected_gene': 'IPP', 'score': 12.03}, {'connected_gene': 'CCDC17', 'score': 11.58}, {'connected_gene': 'HECTD3', 'score': 10.32}, {'connected_gene': 'TMA16P2', 'score': 0.26}]
chr1 GH01I045864 45864001 45864999 0.74 [{'connected_gene': 'MAST2', 'score': 37.11}, {'connected_gene': 'GPBP1L1', 'score': 30.05}, {'connected_gene': 'TOE1', 'score': 17.25}, {'connected_gene': 'RPL7AP16', 'score': 16.57}, {'connected_gene': 'LRRC41', 'score': 15.21}, {'connected_gene': 'EFCAB14-AS1', 'score': 13.79}, {'connected_gene': 'HECTD3', 'score': 12.91}, {'connected_gene': 'RPS15AP10', 'score': 11.8}, {'connected_gene': 'MUTYH', 'score': 10.94}, {'connected_gene': 'MOB3C', 'score': 10.31}, {'connected_gene': 'CCDC17', 'score': 10.24}, {'connected_gene': 'GC01M045859', 'score': 0.77}, {'connected_gene': 'LOC105378694', 'score': 0.26}]
chr1 GH01I045822 45822334 45823168 0.7 [{'connected_gene': 'MAST2', 'score': 37.86}, {'connected_gene': 'TMEM69', 'score': 10.72}, {'connected_gene': 'GPBP1L1', 'score': 10.72}, {'connected_gene': 'CCDC17', 'score': 10.39}, {'connected_gene': 'TMA16P2', 'score': 0.34}]
chr1 GH01I045619 45619649 45619798 0.46 [{'connected_gene': 'MAST2', 'score': 7.82}, {'connected_gene': 'CCDC17', 'score': 0.44}, {'connected_gene': 'ENSG00000281825', 'score': 0.39}]
chr1 GH01I045623 45623652 45624128 0.93 [{'connected_gene': 'CCDC17', 'score': 550.77}, {'connected_gene': 'ENSG00000281825', 'score': 0.37}]
chr1 GH01I045622 45622849 45622998 0.43 [{'connected_gene': 'CCDC17', 'score': 550.77}, {'connected_gene': 'ENSG00000281825', 'score': 0.37}]
chr1 GH01I045517 45517045 45517552 0.43 [{'connected_gene': 'CCDC163', 'score': 98.51}, {'connected_gene': 'AKR1A1', 'score': 12.75}, {'connected_gene': 'CCDC17', 'score': 10.18}, {'connected_gene': 'GPBP1L1', 'score': 10.13}, {'connected_gene': 'PIR60929', 'score': 0.77}, {'connected_gene': 'PRDX1', 'score': 0.44}]
chr1 GH01I046178 46178988 46185981 1.96 [{'connected_gene': 'TSPAN1', 'score': 550.44}, {'connected_gene': 'GPBP1L1', 'score': 56.14}, {'connected_gene': 'TOE1', 'score': 42.54}, {'connected_gene': 'RPL7AP16', 'score': 41.86}, {'connected_gene': 'LRRC41', 'score': 40.9}, {'connected_gene': 'EFCAB14-AS1', 'score': 31.82}, {'connected_gene': 'LURAP1', 'score': 23.05}, {'connected_gene': 'RPS15AP10', 'score': 19.52}, {'connected_gene': 'TMEM69', 'score': 18.5}, {'connected_gene': 'CCDC163', 'score': 14.42}, {'connected_gene': 'CCDC17', 'score': 11.51}, {'connected_gene': 'NSUN4', 'score': 10.99}, {'connected_gene': 'PIK3R3', 'score': 0.44}]
chr1 GH01I045582 45582131 45587567 2.09 [{'connected_gene': 'GC01M045583', 'score': 550.77}, {'connected_gene': 'NASP', 'score': 550.77}, {'connected_gene': 'GPBP1L1', 'score': 82.98}, {'connected_gene': 'TOE1', 'score': 76.58}, {'connected_gene': 'LRRC41', 'score': 68.35}, {'connected_gene': 'RPL7AP16', 'score': 47.33}, {'connected_gene': 'MUTYH', 'score': 43.01}, {'connected_gene': 'CCDC163', 'score': 37.82}, {'connected_gene': 'HECTD3', 'score': 37.18}, {'connected_gene': 'RPS8', 'score': 31.05}, {'connected_gene': 'ZSWIM5', 'score': 14.4}, {'connected_gene': 'RPS15AP10', 'score': 12.17}, {'connected_gene': 'CCDC17', 'score': 12.14}, {'connected_gene': 'NSUN4', 'score': 10.91}, {'connected_gene': 'LURAP1', 'score': 10.75}, {'connected_gene': 'IPP', 'score': 8.64}, {'connected_gene': 'MAST2', 'score': 7.45}, {'connected_gene': 'BEST4', 'score': 4.65}, {'connected_gene': 'ENSG00000281112', 'score': 0.44}]
chr1 GH01I045590 45590779 45591498 0.49 [{'connected_gene': 'ENSG00000281112', 'score': 550.77}, {'connected_gene': 'CCDC17', 'score': 12.16}, {'connected_gene': 'GPBP1L1', 'score': 12.02}, {'connected_gene': 'IPP', 'score': 7.81}, {'connected_gene': 'GC01M045583', 'score': 0.44}, {'connected_gene': 'NASP', 'score': 0.44}]
chr1 GH01I045514 45514589 45516738 0.56 [{'connected_gene': 'PIR60929', 'score': 550.77}, {'connected_gene': 'CCDC163', 'score': 98.51}, {'connected_gene': 'AKR1A1', 'score': 12.75}, {'connected_gene': 'CCDC17', 'score': 10.76}, {'connected_gene': 'GPBP1L1', 'score': 10.71}, {'connected_gene': 'MMACHC', 'score': 4.79}, {'connected_gene': 'PRDX1', 'score': 0.44}]
chr1 GH01I044628 44628174 44634784 1.78 [{'connected_gene': 'PIR47647', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 32.63}, {'connected_gene': 'DMAP1', 'score': 30.7}, {'connected_gene': 'KDM4A', 'score': 23.28}, {'connected_gene': 'C1orf228', 'score': 18.2}, {'connected_gene': 'HECTD3', 'score': 17.93}, {'connected_gene': 'RPS8', 'score': 12.76}, {'connected_gene': 'MUTYH', 'score': 12.38}, {'connected_gene': 'CCDC17', 'score': 11.51}, {'connected_gene': 'ARTN', 'score': 10.78}, {'connected_gene': 'RNU5F-1', 'score': 10.63}, {'connected_gene': 'ERI3', 'score': 10.25}, {'connected_gene': 'NASP', 'score': 9.96}, {'connected_gene': 'KDM4A-AS1', 'score': 9.88}, {'connected_gene': 'RNF220', 'score': 9.57}, {'connected_gene': 'GC01P044661', 'score': 0.29}]
chr1 GH01I045516 45516849 45516998 0.46 [{'connected_gene': 'PIR60929', 'score': 550.77}, {'connected_gene': 'AKR1A1', 'score': 12.75}, {'connected_gene': 'CCDC17', 'score': 10.18}, {'connected_gene': 'GPBP1L1', 'score': 10.13}, {'connected_gene': 'PRDX1', 'score': 0.44}]

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