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
ENST00000394249 [[91509269, 91510432], [91512308, 91512350], [91512676, 91512853], [91513633, 91513744], [91517365, 91517476], [91517814, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523619], [91524113, 91524263], [91524728, 91524899], [91524977, 91525211], [91527247, 91527370], [91527922, 91528055], [91537636, 91537725]] [[91510360, 91510432], [91512308, 91512350], [91512676, 91512853], [91513633, 91513744], [91517365, 91517476], [91517814, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523619], [91524113, 91524263], [91524728, 91524899], [91524977, 91525211], [91527247, 91527370], [91527922, 91528055], [91537636, 91537647]]
ENST00000361919 [[91509274, 91510432], [91512753, 91512853], [91513633, 91513744], [91517365, 91517476], [91517814, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523619], [91524113, 91524263], [91524728, 91524899], [91524977, 91525211], [91527247, 91527370], [91527922, 91528055], [91537636, 91537804]] [[91510403, 91510432], [91512753, 91512853], [91513633, 91513744], [91517365, 91517476], [91517814, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523619], [91524113, 91524263], [91524728, 91524899], [91524977, 91525211], [91527247, 91527370], [91527922, 91528055], [91537636, 91537647]]
ENST00000556972 [[91509279, 91509883], [91512753, 91512853], [91513633, 91513657]] [[91509866, 91509883], [91512753, 91512853], [91513633, 91513657]]
ENST00000361188 [[91509306, 91510432], [91512676, 91512853], [91513633, 91513744], [91517365, 91517476], [91517814, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523619], [91524113, 91524263], [91524728, 91524899], [91524977, 91525211], [91527247, 91527370], [91527922, 91528055], [91537636, 91538859]] [[91510360, 91510432], [91512676, 91512853], [91513633, 91513744], [91517365, 91517476], [91517814, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523619], [91524113, 91524263], [91524728, 91524899], [91524977, 91525211], [91527247, 91527370], [91527922, 91528055], [91537636, 91537647]]
ENST00000555455 [[91509694, 91509883], [91512308, 91512350], [91512676, 91512853], [91513633, 91513744], [91517365, 91517476], [91517814, 91517961], [91519905, 91519958]] [[91509808, 91509883], [91512308, 91512350], [91512676, 91512853], [91513633, 91513744], [91517365, 91517476], [91517814, 91517961], [91519905, 91519958]]
ENST00000560423 [[91509893, 91510432], [91512308, 91512350], [91512753, 91512853], [91513633, 91513707]] [[91512330, 91512350], [91512753, 91512853], [91513633, 91513707]]
ENST00000442656 [[91510029, 91510432], [91512753, 91512853], [91513633, 91513744], [91517365, 91517476], [91517814, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523619], [91524113, 91524263], [91524728, 91524899], [91524977, 91525211], [91527922, 91528055], [91537636, 91537755]] [[91510403, 91510432], [91512753, 91512853], [91513633, 91513744], [91517365, 91517476], [91517814, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523619], [91524113, 91524263], [91524728, 91524899], [91524977, 91525211], [91527922, 91528055], [91537636, 91537647]]
ENST00000559828 [[91512805, 91512853], [91517365, 91517476], [91517814, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523516]] [[91512805, 91512853], [91517365, 91517476], [91517814, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523516]]
ENST00000559326 [[91517240, 91517476], [91517814, 91517961], [91519905, 91519998]] None
ENST00000560914 [[91517803, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523753]] None
ENST00000556982 [[91522437, 91522524], [91523471, 91523619], [91524113, 91524461]] None
ENST00000553494 [[91524166, 91524263], [91524977, 91525211], [91527247, 91527370], [91527922, 91528055], [91537636, 91537766]] None
ENST00000557763 [[91524167, 91524263], [91524728, 91525211], [91527247, 91527370], [91527922, 91528055], [91537636, 91537734]] None
ENST00000417173 [[91524172, 91524899], [91524977, 91525211], [91527247, 91527370], [91537636, 91537767]] None
ENST00000560605 [[91524739, 91525211], [91537636, 91537740]] None
ENST00000557905 [[91524814, 91524899], [91524977, 91525211], [91527922, 91528055], [91537636, 91537755]] [[91524814, 91524899], [91524977, 91525211], [91527922, 91528055], [91537636, 91537647]]
ENST00000555791 [[91525115, 91525211], [91527135, 91527370], [91527922, 91528055], [91537636, 91537832]] None
ENST00000555745 [[91525138, 91525211], [91525851, 91525975], [91527247, 91527370], [91527922, 91528055], [91537636, 91537765]] None
ENST00000559811 [[91525192, 91525256], [91527247, 91527370], [91527922, 91528055], [91537636, 91537730]] [[91525192, 91525256], [91527247, 91527370], [91527922, 91528055], [91537636, 91537647]]
ENST00000556129 [[91527286, 91527370], [91527922, 91528055], [91528992, 91529255], [91537636, 91537739]] None
NM_003981 [[91509267, 91510432], [91512308, 91512350], [91512676, 91512853], [91513633, 91513744], [91517365, 91517476], [91517814, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523619], [91524113, 91524263], [91524728, 91524899], [91524977, 91525211], [91527247, 91527370], [91527922, 91528055], [91537636, 91537881]] [[91510360, 91510432], [91512308, 91512350], [91512676, 91512853], [91513633, 91513744], [91517365, 91517476], [91517814, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523619], [91524113, 91524263], [91524728, 91524899], [91524977, 91525211], [91527247, 91527370], [91527922, 91528055], [91537636, 91537647]]
NM_199413 [[91509267, 91510432], [91512676, 91512853], [91513633, 91513744], [91517365, 91517476], [91517814, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523619], [91524113, 91524263], [91524728, 91524899], [91524977, 91525211], [91527247, 91527370], [91527922, 91528055], [91537636, 91537881]] [[91510360, 91510432], [91512676, 91512853], [91513633, 91513744], [91517365, 91517476], [91517814, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523619], [91524113, 91524263], [91524728, 91524899], [91524977, 91525211], [91527247, 91527370], [91527922, 91528055], [91537636, 91537647]]
NM_001267580 [[91509267, 91510432], [91512753, 91512853], [91513633, 91513744], [91517365, 91517476], [91517814, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523619], [91524113, 91524263], [91524728, 91524899], [91524977, 91525211], [91527922, 91528055], [91537636, 91537881]] [[91510403, 91510432], [91512753, 91512853], [91513633, 91513744], [91517365, 91517476], [91517814, 91517961], [91519905, 91520001], [91522387, 91522524], [91523471, 91523619], [91524113, 91524263], [91524728, 91524899], [91524977, 91525211], [91527922, 91528055], [91537636, 91537647]]
Promoter
Chrom Start End Description
chr15 91524220 91524224 CAGE_peak_7_at_PRC1_5end
chr15 91537708 91537721 CAGE_peak_3_at_PRC1_5end
chr15 91537723 91537804 CAGE_peak_1_at_PRC1_5end
chr15 91537809 91537824 CAGE_peak_2_at_PRC1_5end
chr15 91537833 91537840 CAGE_peak_4_at_PRC1_5end
chr15 91537875 91537886 CAGE_peak_6_at_PRC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I090981 90981579 90982552 0.65 [{'connected_gene': 'RCCD1', 'score': 13.11}, {'connected_gene': 'VPS33B', 'score': 7.0}, {'connected_gene': 'GC15M090978', 'score': 0.77}, {'connected_gene': 'ENSG00000200142', 'score': 0.77}, {'connected_gene': 'PRC1', 'score': 0.39}, {'connected_gene': 'PRC1-AS1', 'score': 0.37}, {'connected_gene': 'GC15P090938', 'score': 0.26}]
chr15 GH15I090989 90989201 90989400 0.43 [{'connected_gene': 'RCCD1', 'score': 27.87}, {'connected_gene': 'VPS33B', 'score': 12.3}, {'connected_gene': 'VPS33B-DT', 'score': 12.3}, {'connected_gene': 'PRC1', 'score': 0.44}, {'connected_gene': 'GC15M090978', 'score': 0.39}, {'connected_gene': 'ENSG00000200142', 'score': 0.39}, {'connected_gene': 'GC15P090938', 'score': 0.23}]
chr15 GH15I090988 90988202 90989000 0.79 [{'connected_gene': 'RCCD1', 'score': 46.73}, {'connected_gene': 'VPS33B-DT', 'score': 17.13}, {'connected_gene': 'VPS33B', 'score': 12.3}, {'connected_gene': 'PRC1', 'score': 0.44}, {'connected_gene': 'GC15M090978', 'score': 0.39}, {'connected_gene': 'ENSG00000200142', 'score': 0.39}, {'connected_gene': 'PRC1-AS1', 'score': 0.34}, {'connected_gene': 'GC15P090938', 'score': 0.23}]
chr15 GH15I090991 90991504 90995844 2.3 [{'connected_gene': 'PRC1', 'score': 550.77}, {'connected_gene': 'RCCD1', 'score': 46.84}, {'connected_gene': 'UNC45A', 'score': 25.72}, {'connected_gene': 'VPS33B', 'score': 23.6}, {'connected_gene': 'VPS33B-DT', 'score': 17.75}, {'connected_gene': 'ENSG00000259212', 'score': 13.85}, {'connected_gene': 'ENSG00000259314', 'score': 10.75}, {'connected_gene': 'FES', 'score': 5.49}, {'connected_gene': 'GC15M090978', 'score': 0.37}, {'connected_gene': 'ENSG00000200142', 'score': 0.37}, {'connected_gene': 'GC15P090938', 'score': 0.22}]
chr15 GH15I091047 91047401 91047801 0.85 [{'connected_gene': 'PRC1', 'score': 10.94}, {'connected_gene': 'ENSG00000228998', 'score': 6.24}, {'connected_gene': 'GC15P091057', 'score': 0.44}, {'connected_gene': 'LOC390638', 'score': 0.39}, {'connected_gene': 'GC15M091046', 'score': 0.37}]
chr15 GH15I090949 90949152 90950412 0.94 [{'connected_gene': 'UNC45A', 'score': 16.59}, {'connected_gene': 'PRC1', 'score': 10.66}, {'connected_gene': 'MAN2A2', 'score': 5.51}, {'connected_gene': 'RCCD1', 'score': 0.77}, {'connected_gene': 'GC15P090938', 'score': 0.39}]
chr15 GH15I090178 90178316 90179914 1.33 [{'connected_gene': 'FANCI', 'score': 12.22}, {'connected_gene': 'SEMA4B', 'score': 12.05}, {'connected_gene': 'PRC1', 'score': 10.74}, {'connected_gene': 'ZNF774', 'score': 1.27}, {'connected_gene': 'GC15P090181', 'score': 0.77}, {'connected_gene': 'RN7SL346P', 'score': 0.39}]
chr15 GH15I089997 89997925 90006282 2.69 [{'connected_gene': 'ZNF710', 'score': 557.94}, {'connected_gene': 'FANCI', 'score': 22.96}, {'connected_gene': 'NIFKP5', 'score': 13.96}, {'connected_gene': 'ENSG00000259212', 'score': 13.26}, {'connected_gene': 'ENSG00000259314', 'score': 13.0}, {'connected_gene': 'UNC45A', 'score': 12.97}, {'connected_gene': 'POLG', 'score': 12.8}, {'connected_gene': 'ENSG00000228998', 'score': 10.99}, {'connected_gene': 'PRC1', 'score': 10.73}, {'connected_gene': 'TICRR', 'score': 10.09}, {'connected_gene': 'IQGAP1', 'score': 7.4}, {'connected_gene': 'ARPIN', 'score': 5.36}, {'connected_gene': 'ANPEP', 'score': 1.24}, {'connected_gene': 'MIR3174', 'score': 0.77}]
chr15 GH15I090986 90986931 90987080 0.6 [{'connected_gene': 'VPS33B', 'score': 12.3}, {'connected_gene': 'VPS33B-DT', 'score': 12.3}, {'connected_gene': 'HDDC3', 'score': 10.95}, {'connected_gene': 'ENSG00000224441', 'score': 10.95}, {'connected_gene': 'UNC45A', 'score': 10.94}, {'connected_gene': 'GC15M090978', 'score': 0.44}, {'connected_gene': 'PRC1', 'score': 0.44}, {'connected_gene': 'ENSG00000200142', 'score': 0.44}, {'connected_gene': 'PRC1-AS1', 'score': 0.34}, {'connected_gene': 'GC15P090938', 'score': 0.25}]
chr15 GH15I090186 90186977 90195693 1.4 [{'connected_gene': 'SEMA4B', 'score': 22.1}, {'connected_gene': 'CIB1', 'score': 19.6}, {'connected_gene': 'FANCI', 'score': 12.22}, {'connected_gene': 'GDPGP1', 'score': 11.26}, {'connected_gene': 'NGRN', 'score': 11.06}, {'connected_gene': 'PRC1', 'score': 10.74}, {'connected_gene': 'IDH2', 'score': 6.14}, {'connected_gene': 'LOC105370969', 'score': 6.04}, {'connected_gene': 'TTLL13P', 'score': 5.71}, {'connected_gene': 'GC15M090188', 'score': 0.77}, {'connected_gene': 'RPS12P26', 'score': 0.37}]