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
ENST00000371120 [[63249805, 63249896], [63269389, 63269533], [63270842, 63270926], [63282245, 63282479], [63284675, 63285006], [63286809, 63286880], [63294710, 63294847], [63299708, 63299787], [63300446, 63300523], [63307098, 63307218], [63329662, 63331184]] [[63269457, 63269533], [63270842, 63270926], [63282245, 63282479], [63284675, 63285006], [63286809, 63286880], [63294710, 63294847], [63299708, 63299787], [63300446, 63300523], [63307098, 63307218], [63329662, 63329830]]
ENST00000317868 [[63249805, 63249944], [63269389, 63269533], [63270842, 63270926], [63282245, 63282479], [63284675, 63285006], [63286809, 63286880], [63294710, 63294847], [63299708, 63299787], [63300446, 63300523], [63307098, 63307218], [63329662, 63331184]] [[63269457, 63269533], [63270842, 63270926], [63282245, 63282479], [63284675, 63285006], [63286809, 63286880], [63294710, 63294847], [63299708, 63299787], [63300446, 63300523], [63307098, 63307218], [63329662, 63329830]]
ENST00000443289 [[63249805, 63249944], [63269448, 63269533], [63270842, 63270926], [63282245, 63282479], [63284675, 63284736]] [[63269457, 63269533], [63270842, 63270926], [63282245, 63282479], [63284675, 63284736]]
ENST00000371118 [[63250903, 63250931], [63269389, 63269533], [63270842, 63270926], [63282245, 63282479], [63284675, 63284850]] [[63269457, 63269533], [63270842, 63270926], [63282245, 63282479], [63284675, 63284850]]
ENST00000414558 [[63286853, 63286880], [63294710, 63294847], [63299708, 63299787], [63300446, 63300523], [63301056, 63301200]] [[63286853, 63286880], [63294710, 63294847], [63299708, 63299787], [63300446, 63300523], [63301056, 63301068]]
NM_178221 [[63249776, 63249896], [63269389, 63269533], [63270842, 63270926], [63282245, 63282479], [63284675, 63285006], [63286809, 63286880], [63294710, 63294847], [63299708, 63299787], [63300446, 63300523], [63307098, 63307218], [63329662, 63330941]] [[63269457, 63269533], [63270842, 63270926], [63282245, 63282479], [63284675, 63285006], [63286809, 63286880], [63294710, 63294847], [63299708, 63299787], [63300446, 63300523], [63307098, 63307218], [63329662, 63329830]]
NM_032852 [[63249776, 63249944], [63269389, 63269533], [63270842, 63270926], [63282245, 63282479], [63284675, 63285006], [63286809, 63286880], [63294710, 63294847], [63299708, 63299787], [63300446, 63300523], [63307098, 63307218], [63329662, 63330941]] [[63269457, 63269533], [63270842, 63270926], [63282245, 63282479], [63284675, 63285006], [63286809, 63286880], [63294710, 63294847], [63299708, 63299787], [63300446, 63300523], [63307098, 63307218], [63329662, 63329830]]
Promoter
Chrom Start End Description
chr1 63249774 63249787 CAGE_peak_2_at_ATG4C_5end
chr1 63249796 63249847 CAGE_peak_1_at_ATG4C_5end
chr1 63249851 63249860 CAGE_peak_3_at_ATG4C_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I062485 62485001 62485200 0.43 [{'connected_gene': 'DOCK7', 'score': 16.54}, {'connected_gene': 'ATG4C', 'score': 10.36}, {'connected_gene': 'ENSG00000270549', 'score': 0.25}, {'connected_gene': 'USP1', 'score': 0.25}]
chr1 GH01I062483 62483277 62483645 0.22 [{'connected_gene': 'DOCK7', 'score': 18.56}, {'connected_gene': 'ATG4C', 'score': 12.35}, {'connected_gene': 'KANK4', 'score': 1.85}, {'connected_gene': 'USP1', 'score': 1.54}, {'connected_gene': 'ENSG00000270549', 'score': 0.25}]
chr1 GH01I062733 62733128 62733256 0.2 [{'connected_gene': 'DOCK7', 'score': 5.33}, {'connected_gene': 'ENSG00000235545', 'score': 0.26}, {'connected_gene': 'ATG4C', 'score': 0.23}]
chr1 GH01I062708 62707610 62707641 0.46 [{'connected_gene': 'DOCK7', 'score': 20.18}, {'connected_gene': 'ENSG00000235545', 'score': 0.37}, {'connected_gene': 'ATG4C', 'score': 0.18}]
chr1 GH01I062734 62733699 62734551 0.87 [{'connected_gene': 'DOCK7', 'score': 12.88}, {'connected_gene': 'ATG4C', 'score': 0.25}, {'connected_gene': 'ENSG00000235545', 'score': 0.25}]
chr1 GH01I062735 62735710 62735859 0.46 [{'connected_gene': 'DOCK7', 'score': 5.35}, {'connected_gene': 'ATG4C', 'score': 0.25}, {'connected_gene': 'ENSG00000235545', 'score': 0.25}]
chr1 GH01I062724 62724279 62726305 0.74 [{'connected_gene': 'DOCK7', 'score': 13.05}, {'connected_gene': 'ENSG00000235545', 'score': 0.28}, {'connected_gene': 'ATG4C', 'score': 0.22}]
chr1 GH01I062462 62462639 62462937 0.56 [{'connected_gene': 'DOCK7', 'score': 15.85}, {'connected_gene': 'USP1', 'score': 10.73}, {'connected_gene': 'KANK4', 'score': 5.59}, {'connected_gene': 'ATG4C', 'score': 1.68}, {'connected_gene': 'ENSG00000270549', 'score': 0.2}]
chr1 GH01I062686 62686685 62692108 2.25 [{'connected_gene': 'DOCK7', 'score': 570.46}, {'connected_gene': 'ENSG00000235545', 'score': 550.77}, {'connected_gene': 'ITGB3BP', 'score': 14.4}, {'connected_gene': 'USP1', 'score': 13.98}, {'connected_gene': 'ATG4C', 'score': 10.48}]
chr1 GH01I062876 62876630 62876855 0.58 [{'connected_gene': 'ATG4C', 'score': 6.8}, {'connected_gene': 'DOCK7', 'score': 4.36}, {'connected_gene': 'ENSG00000234318', 'score': 0.37}, {'connected_gene': 'GC01M062841', 'score': 0.29}]
chr1 GH01I062685 62685001 62686000 0.93 [{'connected_gene': 'ATG4C', 'score': 10.2}, {'connected_gene': 'DOCK7', 'score': 0.77}, {'connected_gene': 'GC01M062669', 'score': 0.39}]
chr1 GH01I062762 62760751 62761587 0.46 [{'connected_gene': 'ATG4C', 'score': 22.03}, {'connected_gene': 'L1TD1', 'score': 4.82}, {'connected_gene': 'ENSG00000235545', 'score': 0.19}]
chr1 GH01I062782 62782995 62785329 2.27 [{'connected_gene': 'ATG4C', 'score': 578.6}, {'connected_gene': 'ALG6', 'score': 22.95}, {'connected_gene': 'ITGB3BP', 'score': 10.33}, {'connected_gene': 'GC01M062841', 'score': 0.22}]
chr1 GH01I062794 62794856 62797206 0.83 [{'connected_gene': 'ATG4C', 'score': 11.49}, {'connected_gene': 'KANK4', 'score': 5.22}, {'connected_gene': 'GC01M062841', 'score': 0.25}]
chr1 GH01I062882 62882340 62882576 0.72 [{'connected_gene': 'ATG4C', 'score': 6.62}, {'connected_gene': 'ENSG00000234318', 'score': 0.39}, {'connected_gene': 'GC01M062841', 'score': 0.26}]
chr1 GH01I062855 62855991 62858412 0.38 [{'connected_gene': 'ATG4C', 'score': 26.89}, {'connected_gene': 'GC01M062841', 'score': 0.39}, {'connected_gene': 'ENSG00000234318', 'score': 0.28}]
chr1 GH01I062868 62868836 62870154 0.7 [{'connected_gene': 'ATG4C', 'score': 6.69}, {'connected_gene': 'GC01M062841', 'score': 0.31}, {'connected_gene': 'ENSG00000234318', 'score': 0.31}]
chr1 GH01I062777 62777921 62778959 0.31 [{'connected_gene': 'ATG4C', 'score': 0.44}, {'connected_gene': 'ENSG00000235545', 'score': 0.17}]
chr1 GH01I062761 62760130 62760279 0.2 [{'connected_gene': 'ATG4C', 'score': 20.63}, {'connected_gene': 'ENSG00000235545', 'score': 0.19}]
chr1 GH01I062755 62755793 62756177 0.2 [{'connected_gene': 'ATG4C', 'score': 12.18}, {'connected_gene': 'ENSG00000235545', 'score': 0.2}]
chr1 GH01I062757 62755043 62755719 0.2 [{'connected_gene': 'ATG4C', 'score': 28.03}, {'connected_gene': 'ENSG00000235545', 'score': 0.2}]
chr1 GH01I062756 62756310 62756479 0.2 [{'connected_gene': 'ATG4C', 'score': 12.06}, {'connected_gene': 'ENSG00000235545', 'score': 0.2}]
chr1 GH01I062800 62800026 62801678 0.94 [{'connected_gene': 'ATG4C', 'score': 10.4}, {'connected_gene': 'GC01M062841', 'score': 0.26}]
chr1 GH01I062783 62782244 62782603 0.43 [{'connected_gene': 'ATG4C', 'score': 562.73}, {'connected_gene': 'ENSG00000235545', 'score': 0.16}]
chr1 GH01I062811 62811010 62811159 0.66 [{'connected_gene': 'ATG4C', 'score': 11.78}, {'connected_gene': 'GC01M062841', 'score': 0.29}]
chr1 GH01I062760 62760490 62760639 0.49 [{'connected_gene': 'ATG4C', 'score': 12.38}, {'connected_gene': 'ENSG00000235545', 'score': 0.19}]
chr1 GH01I062435 62435284 62440261 2.51 [{'connected_gene': 'USP1', 'score': 550.77}, {'connected_gene': 'DOCK7', 'score': 19.3}, {'connected_gene': 'ATG4C', 'score': 9.7}, {'connected_gene': 'ENSG00000270549', 'score': 0.16}]
chr1 GH01I063730 63729054 63733657 1.27 [{'connected_gene': 'ROR1', 'score': 10.95}, {'connected_gene': 'EFCAB7', 'score': 10.77}, {'connected_gene': 'ATG4C', 'score': 10.02}, {'connected_gene': 'GC01M063731', 'score': 0.39}, {'connected_gene': 'GC01M063690', 'score': 0.26}]
chr1 GH01I063522 63522056 63524856 2.14 [{'connected_gene': 'ITGB3BP', 'score': 758.52}, {'connected_gene': 'EFCAB7', 'score': 644.59}, {'connected_gene': 'ALG6', 'score': 60.8}, {'connected_gene': 'DLEU2L', 'score': 35.14}, {'connected_gene': 'DOCK7', 'score': 18.8}, {'connected_gene': 'ROR1', 'score': 18.35}, {'connected_gene': 'FOXD3-AS1', 'score': 12.59}, {'connected_gene': 'FOXD3', 'score': 10.72}, {'connected_gene': 'ENSG00000235545', 'score': 10.4}, {'connected_gene': 'ATG4C', 'score': 10.02}, {'connected_gene': 'LOC441887', 'score': 9.57}, {'connected_gene': 'RN7SL488P', 'score': 0.44}]
chr1 GH01I062706 62706842 62707429 0.46 [{'connected_gene': 'ENSG00000235545', 'score': 0.37}, {'connected_gene': 'ATG4C', 'score': 0.18}]
chr1 GH01I062721 62721000 62721400 0.52 [{'connected_gene': 'ENSG00000235545', 'score': 0.29}, {'connected_gene': 'ATG4C', 'score': 0.21}]
chr1 GH01I062707 62707810 62707919 0.38 [{'connected_gene': 'ENSG00000235545', 'score': 0.37}, {'connected_gene': 'ATG4C', 'score': 0.18}]

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