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
ENST00000369111 [[150229553, 150230578], [150232545, 150232566], [150233857, 150234037], [150234556, 150234699], [150234923, 150235019], [150235202, 150235269], [150235440, 150235598], [150235697, 150235818], [150236057, 150236078], [150236192, 150236277], [150236992, 150237478]] [[150230523, 150230578], [150232545, 150232566], [150233857, 150234037], [150234556, 150234699], [150234923, 150235019], [150235202, 150235269], [150235440, 150235598], [150235697, 150235818], [150236057, 150236078], [150236192, 150236277], [150236992, 150237059]]
ENST00000607751 [[150230245, 150230578], [150232545, 150233730]] None
ENST00000607652 [[150230269, 150230578], [150232545, 150232643], [150233976, 150234037], [150234556, 150234699], [150234923, 150235019], [150235202, 150235818], [150236057, 150236078], [150236192, 150236230]] None
ENST00000483993 [[150230488, 150230578], [150232545, 150232566], [150232677, 150232781], [150233856, 150234037], [150234556, 150234699], [150234923, 150235019], [150235202, 150235269], [150235440, 150235596]] [[150230523, 150230578], [150232545, 150232566], [150232677, 150232730]]
ENST00000607082 [[150235442, 150235598], [150235697, 150235818], [150236060, 150236078], [150236992, 150237291]] [[150235442, 150235598], [150235697, 150235818], [150236060, 150236078], [150236992, 150237090]]
NM_012113 [[150230137, 150230578], [150232545, 150232566], [150233857, 150234037], [150234556, 150234699], [150234923, 150235019], [150235202, 150235269], [150235440, 150235598], [150235697, 150235818], [150236057, 150236078], [150236192, 150236277], [150236992, 150237478]] [[150230523, 150230578], [150232545, 150232566], [150233857, 150234037], [150234556, 150234699], [150234923, 150235019], [150235202, 150235269], [150235440, 150235598], [150235697, 150235818], [150236057, 150236078], [150236192, 150236277], [150236992, 150237059]]
Promoter
Chrom Start End Description
chr1 150229665 150229674 CAGE_peak_10_at_CA14_5end
chr1 150229681 150229697 CAGE_peak_8_at_CA14_5end
chr1 150230160 150230176 CAGE_peak_4_at_CA14_5end
chr1 150230182 150230198 CAGE_peak_7_at_CA14_5end
chr1 150230212 150230227 CAGE_peak_5_at_CA14_5end
chr1 150230231 150230242 CAGE_peak_6_at_CA14_5end
chr1 150230247 150230279 CAGE_peak_2_at_CA14_5end
chr1 150230291 150230323 CAGE_peak_3_at_CA14_5end
chr1 150230431 150230501 CAGE_peak_1_at_CA14_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I150262 150262009 150263737 0.46 [{'connected_gene': 'HORMAD1', 'score': 4.02}, {'connected_gene': 'C1orf54', 'score': 0.44}, {'connected_gene': 'ENSG00000276110', 'score': 0.44}, {'connected_gene': 'CA14', 'score': 0.44}]
chr1 GH01I150660 150660675 150662264 0.31 [{'connected_gene': 'HORMAD1', 'score': 77.52}, {'connected_gene': 'ARNT', 'score': 23.82}, {'connected_gene': 'GOLPH3L', 'score': 11.38}, {'connected_gene': 'RNU6-1042P', 'score': 11.37}, {'connected_gene': 'ENSA', 'score': 10.98}, {'connected_gene': 'RPS27AP6', 'score': 10.2}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 10.1}, {'connected_gene': 'LOC100289061', 'score': 10.08}, {'connected_gene': 'ADAMTSL4', 'score': 10.06}, {'connected_gene': 'UBE2D3P3', 'score': 9.88}, {'connected_gene': 'CTSK', 'score': 9.87}, {'connected_gene': 'MINDY1', 'score': 9.86}, {'connected_gene': 'PRUNE1', 'score': 9.86}, {'connected_gene': 'RNU6-884P', 'score': 9.28}, {'connected_gene': 'CA14', 'score': 9.09}, {'connected_gene': 'GC01P150630', 'score': 0.29}]
chr1 GH01I150464 150464445 150464614 0.72 [{'connected_gene': 'TARS2', 'score': 12.62}, {'connected_gene': 'ECM1', 'score': 12.55}, {'connected_gene': 'ADAMTSL4', 'score': 11.57}, {'connected_gene': 'LOC100289061', 'score': 11.55}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 11.53}, {'connected_gene': 'CA14', 'score': 10.43}, {'connected_gene': 'CIART', 'score': 10.4}, {'connected_gene': 'CTSK', 'score': 9.59}, {'connected_gene': 'UBE2D3P3', 'score': 9.52}, {'connected_gene': 'GC01P150425', 'score': 0.28}, {'connected_gene': 'RPRD2', 'score': 0.15}]
chr1 GH01I150008 150008770 150011646 2.62 [{'connected_gene': 'OTUD7B', 'score': 553.09}, {'connected_gene': 'PRPF3', 'score': 24.87}, {'connected_gene': 'SETDB1', 'score': 23.77}, {'connected_gene': 'MTMR11', 'score': 18.5}, {'connected_gene': 'ARNT', 'score': 14.12}, {'connected_gene': 'ADAMTSL4', 'score': 14.11}, {'connected_gene': 'SV2A', 'score': 13.5}, {'connected_gene': 'UBE2D3P3', 'score': 13.49}, {'connected_gene': 'RPRD2', 'score': 12.01}, {'connected_gene': 'CTSK', 'score': 11.78}, {'connected_gene': 'SF3B4', 'score': 11.16}, {'connected_gene': 'HIST2H2AB', 'score': 10.42}, {'connected_gene': 'BOLA1', 'score': 10.42}, {'connected_gene': 'HIST2H2AC', 'score': 10.42}, {'connected_gene': 'HIST2H2BE', 'score': 10.42}, {'connected_gene': 'MCL1', 'score': 9.68}, {'connected_gene': 'CA14', 'score': 9.21}, {'connected_gene': 'ANP32E', 'score': 1.8}, {'connected_gene': 'PIR49087', 'score': 0.19}]
chr1 GH01I150301 150301637 150303672 0.31 [{'connected_gene': 'MRPS21', 'score': 17.76}, {'connected_gene': 'C1orf54', 'score': 11.7}, {'connected_gene': 'APH1A', 'score': 11.7}, {'connected_gene': 'CA14', 'score': 11.35}, {'connected_gene': 'ADAMTSL4', 'score': 10.89}, {'connected_gene': 'SEMA6C', 'score': 6.76}, {'connected_gene': 'LOC105371434', 'score': 0.44}, {'connected_gene': 'PRPF3', 'score': 0.37}]
chr1 GH01I150073 150073130 150073259 0.59 [{'connected_gene': 'PLEKHO1', 'score': 11.99}, {'connected_gene': 'CA14', 'score': 9.51}, {'connected_gene': 'LOC105371427', 'score': 0.44}, {'connected_gene': 'VPS45', 'score': 0.44}, {'connected_gene': 'GC01P150114', 'score': 0.26}]
chr1 GH01I150191 150191185 150193282 0.77 [{'connected_gene': 'PLEKHO1', 'score': 11.33}, {'connected_gene': 'VPS45', 'score': 10.97}, {'connected_gene': 'MTMR11', 'score': 10.79}, {'connected_gene': 'HIST2H2AC', 'score': 10.78}, {'connected_gene': 'HIST2H2BE', 'score': 10.78}, {'connected_gene': 'BOLA1', 'score': 10.78}, {'connected_gene': 'SF3B4', 'score': 10.59}, {'connected_gene': 'C1orf54', 'score': 10.42}, {'connected_gene': 'APH1A', 'score': 10.42}, {'connected_gene': 'CA14', 'score': 10.32}, {'connected_gene': 'CIART', 'score': 10.05}, {'connected_gene': 'TARS2', 'score': 8.66}, {'connected_gene': 'GC01P150213', 'score': 0.37}, {'connected_gene': 'LOC105371433', 'score': 0.29}]
chr1 GH01I150109 150109323 150110800 0.51 [{'connected_gene': 'PLEKHO1', 'score': 18.05}, {'connected_gene': 'MTMR11', 'score': 10.53}, {'connected_gene': 'CA14', 'score': 10.0}, {'connected_gene': 'GC01P150114', 'score': 0.77}, {'connected_gene': 'LOC105371427', 'score': 0.26}, {'connected_gene': 'VPS45', 'score': 0.26}]
chr1 GH01I150254 150254987 150260761 2.66 [{'connected_gene': 'CA14', 'score': 554.1}, {'connected_gene': 'ENSG00000276110', 'score': 550.77}, {'connected_gene': 'MRPS21', 'score': 5.31}, {'connected_gene': 'ADAMTSL4', 'score': 4.65}, {'connected_gene': 'ECM1', 'score': 1.38}, {'connected_gene': 'C1orf54', 'score': 0.39}]
chr1 GH01I150484 150484505 150485261 0.89 [{'connected_gene': 'ECM1', 'score': 12.19}, {'connected_gene': 'ADAMTSL4', 'score': 11.12}, {'connected_gene': 'LOC100289061', 'score': 11.1}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 11.08}, {'connected_gene': 'PRPF3', 'score': 10.52}, {'connected_gene': 'C1orf54', 'score': 10.39}, {'connected_gene': 'APH1A', 'score': 10.39}, {'connected_gene': 'CA14', 'score': 9.89}, {'connected_gene': 'UBE2D3P3', 'score': 9.69}, {'connected_gene': 'CTSK', 'score': 9.69}, {'connected_gene': 'RNU6-884P', 'score': 9.62}, {'connected_gene': 'PRUNE1', 'score': 9.62}, {'connected_gene': 'MINDY1', 'score': 9.36}, {'connected_gene': 'RNU6-1309P', 'score': 9.1}, {'connected_gene': 'HORMAD1', 'score': 6.13}, {'connected_gene': 'TARS2', 'score': 0.77}, {'connected_gene': 'GC01P150425', 'score': 0.22}]
chr1 GH01I150507 150507327 150509612 1.55 [{'connected_gene': 'ECM1', 'score': 559.66}, {'connected_gene': 'MRPS21', 'score': 20.05}, {'connected_gene': 'ADAMTSL4', 'score': 20.0}, {'connected_gene': 'LOC100289061', 'score': 11.66}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 11.62}, {'connected_gene': 'CA14', 'score': 10.26}, {'connected_gene': 'RPRD2', 'score': 7.18}, {'connected_gene': 'TARS2', 'score': 4.78}, {'connected_gene': 'CTSS', 'score': 3.89}, {'connected_gene': 'GC01P150516', 'score': 0.44}]
chr1 GH01I150249 150249678 150250576 0.31 [{'connected_gene': 'CIART', 'score': 11.87}, {'connected_gene': 'RPRD2', 'score': 10.28}, {'connected_gene': 'CA14', 'score': 0.44}, {'connected_gene': 'RNU2-17P', 'score': 0.39}]
chr1 GH01I150006 150006494 150008145 1.17 [{'connected_gene': 'MTMR11', 'score': 18.88}, {'connected_gene': 'SF3B4', 'score': 10.59}, {'connected_gene': 'OTUD7B', 'score': 8.67}, {'connected_gene': 'SV2A', 'score': 3.9}, {'connected_gene': 'CA14', 'score': 2.07}, {'connected_gene': 'PIR49087', 'score': 0.2}]
chr1 GH01I149961 149961637 149962591 0.79 [{'connected_gene': 'MTMR11', 'score': 12.07}, {'connected_gene': 'SF3B4', 'score': 11.13}, {'connected_gene': 'OTUD7B', 'score': 11.12}, {'connected_gene': 'SV2A', 'score': 11.1}, {'connected_gene': 'VPS45', 'score': 11.08}, {'connected_gene': 'BOLA1', 'score': 11.02}, {'connected_gene': 'HIST2H2AC', 'score': 11.01}, {'connected_gene': 'HIST2H2BE', 'score': 11.01}, {'connected_gene': 'HIST2H2AB', 'score': 10.94}, {'connected_gene': 'PLEKHO1', 'score': 10.9}, {'connected_gene': 'CA14', 'score': 9.16}, {'connected_gene': 'C1orf54', 'score': 3.83}, {'connected_gene': 'PIR49087', 'score': 0.34}]
chr1 GH01I150156 150156799 150167065 1.78 [{'connected_gene': 'LOC105371433', 'score': 550.77}, {'connected_gene': 'PLEKHO1', 'score': 14.52}, {'connected_gene': 'SV2A', 'score': 11.02}, {'connected_gene': 'MTMR11', 'score': 10.42}, {'connected_gene': 'CA14', 'score': 9.88}, {'connected_gene': 'MCL1', 'score': 9.28}, {'connected_gene': 'PRPF3', 'score': 7.71}, {'connected_gene': 'MRPS21', 'score': 5.5}, {'connected_gene': 'ANP32E', 'score': 5.39}, {'connected_gene': 'RPRD2', 'score': 5.35}, {'connected_gene': 'TNFAIP8L2', 'score': 5.28}, {'connected_gene': 'CTSS', 'score': 5.15}, {'connected_gene': 'C1orf56', 'score': 4.79}, {'connected_gene': 'SEMA6C', 'score': 4.21}, {'connected_gene': 'GC01P150114', 'score': 0.25}, {'connected_gene': 'GC01P150213', 'score': 0.25}]
chr1 GH01I150065 150065086 150068839 2.11 [{'connected_gene': 'LOC105371427', 'score': 550.77}, {'connected_gene': 'VPS45', 'score': 550.77}, {'connected_gene': 'GC01M150063', 'score': 550.77}, {'connected_gene': 'PRPF3', 'score': 52.22}, {'connected_gene': 'SETDB1', 'score': 51.12}, {'connected_gene': 'ARNT', 'score': 40.47}, {'connected_gene': 'SF3B4', 'score': 37.91}, {'connected_gene': 'UBE2D3P3', 'score': 36.16}, {'connected_gene': 'HIST2H2AB', 'score': 22.04}, {'connected_gene': 'RPRD2', 'score': 18.99}, {'connected_gene': 'PLEKHO1', 'score': 17.6}, {'connected_gene': 'GOLPH3L', 'score': 13.14}, {'connected_gene': 'CTSK', 'score': 12.04}, {'connected_gene': 'HIST2H2BD', 'score': 10.28}, {'connected_gene': 'HIST2H2BC', 'score': 10.01}, {'connected_gene': 'CA14', 'score': 9.5}, {'connected_gene': 'ADAMTSL4', 'score': 5.66}, {'connected_gene': 'MRPS21', 'score': 4.56}, {'connected_gene': 'LOC441907', 'score': 0.39}]
chr1 GH01I150213 150213082 150214600 1.42 [{'connected_gene': 'GC01P150215', 'score': 550.77}, {'connected_gene': 'GC01P150214', 'score': 550.77}, {'connected_gene': 'SETDB1', 'score': 19.24}, {'connected_gene': 'SF3B4', 'score': 17.92}, {'connected_gene': 'ANP32E', 'score': 16.41}, {'connected_gene': 'PIP5K1A', 'score': 15.81}, {'connected_gene': 'PRPF3', 'score': 15.57}, {'connected_gene': 'RNU2-17P', 'score': 13.78}, {'connected_gene': 'ARNT', 'score': 12.82}, {'connected_gene': 'HIST2H2AB', 'score': 12.77}, {'connected_gene': 'UBE2D3P3', 'score': 11.81}, {'connected_gene': 'CIART', 'score': 11.6}, {'connected_gene': 'CA14', 'score': 11.46}, {'connected_gene': 'C1orf54', 'score': 10.84}, {'connected_gene': 'APH1A', 'score': 10.83}, {'connected_gene': 'PLEKHO1', 'score': 10.8}, {'connected_gene': 'MTMR11', 'score': 10.46}, {'connected_gene': 'HIST2H2BC', 'score': 9.99}, {'connected_gene': 'TARS2', 'score': 8.01}, {'connected_gene': 'RPRD2', 'score': 6.4}, {'connected_gene': 'MRPS21', 'score': 5.42}, {'connected_gene': 'GOLPH3L', 'score': 4.36}, {'connected_gene': 'HIST2H2AC', 'score': 1.94}, {'connected_gene': 'VPS45', 'score': 1.24}, {'connected_gene': 'RN7SL480P', 'score': 0.77}]
chr1 GH01I150512 150512665 150514314 0.63 [{'connected_gene': 'GC01P150516', 'score': 550.77}, {'connected_gene': 'MRPS21', 'score': 20.23}, {'connected_gene': 'ADAMTSL4', 'score': 12.28}, {'connected_gene': 'LOC100289061', 'score': 12.27}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 12.21}, {'connected_gene': 'RPRD2', 'score': 10.57}, {'connected_gene': 'CA14', 'score': 10.26}, {'connected_gene': 'GOLPH3L', 'score': 5.77}, {'connected_gene': 'TARS2', 'score': 5.75}, {'connected_gene': 'ENSG00000261168', 'score': 4.46}, {'connected_gene': 'ECM1', 'score': 0.44}]
chr1 GH01I150514 150514456 150517172 1.53 [{'connected_gene': 'GC01P150516', 'score': 550.77}, {'connected_gene': 'FALEC', 'score': 550.77}, {'connected_gene': 'ADAMTSL4', 'score': 20.67}, {'connected_gene': 'MRPS21', 'score': 18.35}, {'connected_gene': 'PIP5K1A', 'score': 17.05}, {'connected_gene': 'SETDB1', 'score': 15.79}, {'connected_gene': 'C1orf56', 'score': 13.32}, {'connected_gene': 'LOC100289061', 'score': 12.27}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 12.23}, {'connected_gene': 'CA14', 'score': 10.38}, {'connected_gene': 'SF3B4', 'score': 10.25}, {'connected_gene': 'ZNF687', 'score': 9.81}, {'connected_gene': 'PRUNE1', 'score': 9.74}, {'connected_gene': 'ECM1', 'score': 9.24}, {'connected_gene': 'SEMA6C', 'score': 8.14}, {'connected_gene': 'ENSG00000261168', 'score': 4.46}, {'connected_gene': 'LOC105371436', 'score': 0.44}]

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