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
ENST00000431807 [[197504277, 197504502], [197511064, 197511228], [197523515, 197523584], [197534556, 197534600], [197537068, 197537161], [197538964, 197539072], [197540866, 197540991], [197541277, 197541455], [197542016, 197542085], [197559769, 197559883], [197565832, 197565904], [197576868, 197576976], [197583226, 197583355], [197584220, 197584390], [197585298, 197585392], [197586245, 197586415], [197590696, 197590823], [197593916, 197594111], [197594516, 197594585], [197594680, 197594842], [197595582, 197595669], [197596756, 197596876], [197597169, 197597524]] [[197504490, 197504502], [197511064, 197511228], [197523515, 197523546]]
ENST00000272831 [[197504277, 197504502], [197511064, 197511228], [197523515, 197523584], [197534556, 197534600], [197537068, 197537161], [197538964, 197539072], [197540866, 197540991], [197541277, 197541455], [197542016, 197542085], [197559769, 197559883], [197565832, 197565904], [197576868, 197576976], [197583226, 197583355], [197584220, 197584390], [197585298, 197585392], [197586245, 197586415], [197590696, 197590823], [197593916, 197594111], [197594516, 197594585], [197594680, 197594842], [197595582, 197595669], [197596756, 197596876], [197597169, 197597524]] [[197537128, 197537161], [197538964, 197539072], [197540866, 197540991], [197541277, 197541455], [197542016, 197542085], [197559769, 197559883], [197565832, 197565904], [197576868, 197576976], [197583226, 197583355], [197584220, 197584390], [197585298, 197585392], [197586245, 197586415], [197590696, 197590823], [197593916, 197594111], [197594516, 197594585], [197594680, 197594842], [197595582, 197595669], [197596756, 197596876], [197597169, 197597286]]
ENST00000471546 [[197504355, 197504502], [197511064, 197511228], [197521356, 197521577], [197521681, 197521860], [197523515, 197523584], [197530290, 197530407], [197531442, 197532658]] None
ENST00000389175 [[197504355, 197504502], [197511064, 197511228], [197521356, 197521577], [197521681, 197521860], [197523515, 197523584], [197530290, 197530407], [197531442, 197531572], [197534556, 197534600], [197537068, 197537161], [197538964, 197539072], [197540866, 197540991], [197541277, 197541455], [197542016, 197542085], [197559769, 197559883], [197565832, 197565904], [197576868, 197576976], [197577400, 197577463], [197583226, 197583355], [197584220, 197584390], [197585298, 197585392], [197586245, 197586415], [197590696, 197590823], [197593916, 197594111], [197594516, 197594585], [197594680, 197594842], [197595582, 197595669], [197596756, 197596876], [197597169, 197597530]] [[197504490, 197504502], [197511064, 197511228], [197521356, 197521577], [197521681, 197521860], [197523515, 197523584], [197530290, 197530407], [197531442, 197531572], [197534556, 197534600], [197537068, 197537161], [197538964, 197539072], [197540866, 197540991], [197541277, 197541455], [197542016, 197542085], [197559769, 197559883], [197565832, 197565904], [197576868, 197576976], [197577400, 197577463], [197583226, 197583355], [197584220, 197584390], [197585298, 197585392], [197586245, 197586415], [197590696, 197590823], [197593916, 197594111], [197594516, 197594585], [197594680, 197594842], [197595582, 197595669], [197596756, 197596876], [197597169, 197597286]]
ENST00000472405 [[197504425, 197504502], [197521356, 197521577], [197521681, 197521860], [197523515, 197523584], [197534556, 197534600], [197538964, 197539072], [197540866, 197540991], [197541277, 197541455], [197541838, 197541916], [197542016, 197542085], [197559769, 197559887]] [[197521489, 197521577], [197521681, 197521860], [197523515, 197523584], [197534556, 197534600], [197538964, 197538971]]
ENST00000498512 [[197504438, 197504502], [197511064, 197511228], [197537068, 197537161], [197538964, 197539072], [197540866, 197540992]] None
ENST00000423093 [[197504438, 197504502], [197511064, 197511228], [197537068, 197537161], [197538964, 197539072], [197540866, 197540991], [197541277, 197541455], [197541838, 197541916], [197542016, 197542085], [197559769, 197559809]] [[197537128, 197537161], [197538964, 197539072], [197540866, 197540991], [197541277, 197541455], [197541838, 197541850]]
ENST00000495513 [[197521468, 197521577], [197521681, 197521860], [197523515, 197523584], [197534556, 197534600], [197537068, 197537161], [197538964, 197539072], [197540866, 197540974]] None
ENST00000471033 [[197504438, 197504502], [197521356, 197522153]] None
ENST00000497159 [[197540892, 197540991], [197541277, 197541455], [197541838, 197541916], [197542016, 197542085], [197559769, 197559794]] None
ENST00000469429 [[197542029, 197542085], [197559769, 197559883], [197565832, 197565904], [197576868, 197576976], [197583226, 197583355], [197584220, 197584321]] None
ENST00000494389 [[197559766, 197559883], [197565832, 197565904], [197583226, 197583355], [197584220, 197584390], [197585298, 197585392], [197586245, 197586415], [197590696, 197590823], [197593916, 197594252]] None
ENST00000460114 [[197565832, 197565904], [197576868, 197577435]] None
ENST00000424427 [[197577822, 197578407], [197583226, 197583355], [197584220, 197584308], [197584897, 197584958], [197585298, 197585392], [197586245, 197586415], [197590696, 197590823], [197593916, 197594585], [197594680, 197594842], [197595582, 197595669], [197596756, 197596876], [197597169, 197597516]] [[197578080, 197578407], [197583226, 197583355], [197584220, 197584308], [197584897, 197584902]]
ENST00000409270 [[197577840, 197578407], [197583226, 197583355], [197584220, 197584390], [197585298, 197585392], [197586245, 197586415], [197590696, 197590823], [197593916, 197594111], [197594516, 197594585], [197594680, 197594842], [197595582, 197595669], [197596756, 197596876], [197597169, 197597522]] [[197578080, 197578407], [197583226, 197583355], [197584220, 197584390], [197585298, 197585392], [197586245, 197586415], [197590696, 197590823], [197593916, 197594111], [197594516, 197594585], [197594680, 197594842], [197595582, 197595669], [197596756, 197596876], [197597169, 197597286]]
ENST00000448409 [[197577869, 197578407], [197583226, 197583355], [197584220, 197584390], [197585298, 197585392], [197586245, 197586415], [197590696, 197590823], [197593916, 197594585], [197594680, 197594842], [197595582, 197595669], [197596756, 197596876], [197597169, 197597517]] [[197578080, 197578407], [197583226, 197583355], [197584220, 197584390], [197585298, 197585392], [197586245, 197586415], [197590696, 197590823], [197593916, 197594153]]
ENST00000461825 [[197583028, 197583355], [197584220, 197584500]] None
ENST00000465092 [[197583297, 197583355], [197584220, 197584390], [197584897, 197584958], [197585298, 197585392], [197586245, 197586350]] None
ENST00000463826 [[197584002, 197584390], [197585298, 197585392], [197586245, 197586415], [197590696, 197592735]] None
ENST00000487663 [[197584014, 197584390], [197585298, 197585392], [197586245, 197586415], [197590696, 197590823], [197593916, 197594541]] None
ENST00000461243 [[197595586, 197595669], [197596756, 197596876], [197627021, 197627207], [197627978, 197628214]] None
ENST00000483877 [[197596820, 197596876], [197597149, 197597475]] None
NM_001080539 [[197504355, 197504502], [197511064, 197511228], [197521356, 197521577], [197521681, 197521860], [197523515, 197523584], [197530290, 197530407], [197531442, 197531572], [197534556, 197534600], [197537068, 197537161], [197538964, 197539072], [197540866, 197540991], [197541277, 197541455], [197542016, 197542085], [197559769, 197559883], [197565832, 197565904], [197576868, 197576976], [197577400, 197577463], [197583226, 197583355], [197584220, 197584390], [197585298, 197585392], [197586245, 197586415], [197590696, 197590823], [197593916, 197594111], [197594516, 197594585], [197594680, 197594842], [197595582, 197595669], [197596756, 197596876], [197597169, 197597530]] [[197504490, 197504502], [197511064, 197511228], [197521356, 197521577], [197521681, 197521860], [197523515, 197523584], [197530290, 197530407], [197531442, 197531572], [197534556, 197534600], [197537068, 197537161], [197538964, 197539072], [197540866, 197540991], [197541277, 197541455], [197542016, 197542085], [197559769, 197559883], [197565832, 197565904], [197576868, 197576976], [197577400, 197577463], [197583226, 197583355], [197584220, 197584390], [197585298, 197585392], [197586245, 197586415], [197590696, 197590823], [197593916, 197594111], [197594516, 197594585], [197594680, 197594842], [197595582, 197595669], [197596756, 197596876], [197597169, 197597286]]
Promoter
Chrom Start End Description
chr2 197504410 197504471 CAGE_peak_1_at_CCDC150_5end
chr2 197577851 197577860 CAGE_peak_6_at_CCDC150_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I196247 196247205 196250679 1.36 [{'connected_gene': 'STK17B', 'score': 10.4}, {'connected_gene': 'CCDC150', 'score': 5.15}, {'connected_gene': 'GC02M196143', 'score': 0.77}, {'connected_gene': 'HECW2', 'score': 0.05}]
chr2 GH02I196702 196702817 196702966 0.2 [{'connected_gene': 'ANKRD44', 'score': 7.19}, {'connected_gene': 'CCDC150', 'score': 5.36}, {'connected_gene': 'LOC100130452', 'score': 0.39}, {'connected_gene': 'GC02M196687', 'score': 0.37}, {'connected_gene': 'ENSG00000252923', 'score': 0.37}]
chr2 GH02I196566 196566511 196567980 0.31 [{'connected_gene': 'HECW2', 'score': 21.77}, {'connected_gene': 'CCDC150', 'score': 9.99}, {'connected_gene': 'GC02P196542', 'score': 0.34}]
chr2 GH02I196748 196748596 196749525 0.8 [{'connected_gene': 'HECW2', 'score': 10.43}, {'connected_gene': 'LOC100130452', 'score': 0.28}, {'connected_gene': 'GTF3C3', 'score': 0.23}, {'connected_gene': 'CCDC150', 'score': 0.14}]
chr2 GH02I196751 196751117 196751401 0.89 [{'connected_gene': 'HECW2', 'score': 10.43}, {'connected_gene': 'LOC100130452', 'score': 0.28}, {'connected_gene': 'GTF3C3', 'score': 0.25}, {'connected_gene': 'CCDC150', 'score': 0.14}]
chr2 GH02I196758 196758295 196758521 0.24 [{'connected_gene': 'C2orf66', 'score': 5.37}, {'connected_gene': 'GTF3C3', 'score': 0.26}, {'connected_gene': 'LOC100130452', 'score': 0.25}, {'connected_gene': 'CCDC150', 'score': 0.13}]
chr2 GH02I196334 196334254 196336428 0.49 [{'connected_gene': 'CCDC150', 'score': 4.17}, {'connected_gene': 'STK17B', 'score': 4.08}, {'connected_gene': 'RN7SL820P', 'score': 0.25}, {'connected_gene': 'LOC105373822', 'score': 0.16}, {'connected_gene': 'HECW2', 'score': 0.07}]
chr2 GH02I196398 196398931 196401543 1.54 [{'connected_gene': 'CCDC150', 'score': 6.65}, {'connected_gene': 'STK17B', 'score': 3.93}, {'connected_gene': 'LOC105373822', 'score': 0.31}, {'connected_gene': 'RN7SL820P', 'score': 0.14}, {'connected_gene': 'HECW2', 'score': 0.08}]
chr2 GH02I196696 196696118 196697146 0.85 [{'connected_gene': 'CCDC150', 'score': 15.91}, {'connected_gene': 'ANKRD44', 'score': 5.03}, {'connected_gene': 'GC02M196687', 'score': 0.39}, {'connected_gene': 'ENSG00000252923', 'score': 0.39}, {'connected_gene': 'LOC100130452', 'score': 0.37}]
chr2 GH02I196293 196293457 196295766 1.09 [{'connected_gene': 'CCDC150', 'score': 9.77}, {'connected_gene': 'HECW2', 'score': 7.0}, {'connected_gene': 'RN7SL820P', 'score': 0.44}, {'connected_gene': 'LOC105373822', 'score': 0.12}]
chr2 GH02I196600 196600703 196602745 1.3 [{'connected_gene': 'CCDC150', 'score': 10.76}, {'connected_gene': 'HECW2', 'score': 10.07}, {'connected_gene': 'LOC105373823', 'score': 0.28}]
chr2 GH02I196608 196608043 196608106 0.62 [{'connected_gene': 'CCDC150', 'score': 11.81}, {'connected_gene': 'HECW2', 'score': 0.39}, {'connected_gene': 'LOC105373823', 'score': 0.29}]
chr2 GH02I196551 196551177 196551272 0.38 [{'connected_gene': 'CCDC150', 'score': 10.35}, {'connected_gene': 'GC02P196542', 'score': 0.44}, {'connected_gene': 'HECW2', 'score': 0.26}]
chr2 GH02I196639 196639037 196641077 2.04 [{'connected_gene': 'CCDC150', 'score': 556.19}, {'connected_gene': 'LOC105373823', 'score': 550.77}, {'connected_gene': 'SF3B1', 'score': 17.79}, {'connected_gene': 'NPM1P46', 'score': 12.02}, {'connected_gene': 'GTF3C3', 'score': 11.54}, {'connected_gene': 'LOC101927482', 'score': 11.35}, {'connected_gene': 'C2orf66', 'score': 7.2}, {'connected_gene': 'ANKRD44', 'score': 6.18}, {'connected_gene': 'ENSG00000252923', 'score': 0.25}, {'connected_gene': 'GC02M196687', 'score': 0.25}]
chr2 GH02I196718 196718445 196720294 1.04 [{'connected_gene': 'CCDC150', 'score': 5.68}, {'connected_gene': 'LOC100130452', 'score': 0.44}, {'connected_gene': 'GTF3C3', 'score': 0.18}]
chr2 GH02I197194 197194079 197202480 1.19 [{'connected_gene': 'LOC101927596', 'score': 550.77}, {'connected_gene': 'ANKRD44-IT1', 'score': 12.47}, {'connected_gene': 'LOC105373824', 'score': 12.46}, {'connected_gene': 'ANKRD44', 'score': 12.46}, {'connected_gene': 'SF3B1', 'score': 9.36}, {'connected_gene': 'RNU6-1029P', 'score': 9.36}, {'connected_gene': 'ENSG00000202434', 'score': 9.35}, {'connected_gene': 'MOB4', 'score': 6.59}, {'connected_gene': 'CCDC150', 'score': 4.42}, {'connected_gene': 'LOC105373826', 'score': 0.37}]

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