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
ENST00000258229 [[233119180, 233120223], [233121837, 233122286], [233133996, 233134184], [233134850, 233135125], [233136050, 233136281], [233137282, 233137427], [233150410, 233150523], [233152666, 233152900], [233160891, 233161145], [233190013, 233190229], [233192977, 233193036], [233225806, 233225936], [233231500, 233231609], [233270758, 233270936], [233275459, 233275601], [233296028, 233296179], [233297016, 233297109], [233313547, 233313644], [233314811, 233314921], [233334684, 233334776], [233335899, 233336010], [233344263, 233344435], [233353644, 233353677], [233353776, 233353930], [233362971, 233363117], [233372590, 233372726], [233386484, 233386578], [233388099, 233388245], [233388386, 233388534], [233393773, 233395090], [233397030, 233397067], [233397790, 233397911], [233398703, 233398909], [233431071, 233431459]] [[233120049, 233120223], [233121837, 233122286], [233133996, 233134184], [233134850, 233135125], [233136050, 233136281], [233137282, 233137427], [233150410, 233150523], [233152666, 233152900], [233160891, 233161145], [233190013, 233190229], [233192977, 233193036], [233225806, 233225936], [233231500, 233231609], [233270758, 233270936], [233275459, 233275601], [233296028, 233296179], [233297016, 233297109], [233313547, 233313644], [233314811, 233314921], [233334684, 233334776], [233335899, 233336010], [233344263, 233344435], [233353644, 233353677], [233353776, 233353930], [233362971, 233363117], [233372590, 233372726], [233386484, 233386578], [233388099, 233388245], [233388386, 233388534], [233393773, 233395090], [233397030, 233397067], [233397790, 233397911], [233398703, 233398909], [233431071, 233431224]]
ENST00000344698 [[233119881, 233122286], [233133996, 233134184], [233134850, 233135125], [233136050, 233136281], [233137282, 233137427], [233150410, 233150523], [233152666, 233152900], [233160891, 233161145], [233190013, 233190229], [233192977, 233194264]] [[233121699, 233122286], [233133996, 233134184], [233134850, 233135125], [233136050, 233136281], [233137282, 233137427], [233150410, 233150523], [233152666, 233152900], [233160891, 233161145], [233190013, 233190229], [233192977, 233193068]]
ENST00000462233 [[233119881, 233120223], [233121837, 233122286], [233133996, 233134184], [233134850, 233135125], [233136050, 233136281], [233137282, 233137427], [233150410, 233150523], [233152666, 233152900], [233190013, 233190229], [233192977, 233193036], [233225806, 233225936], [233231500, 233231609], [233270758, 233270936], [233275459, 233275601], [233296028, 233296179], [233297016, 233297109], [233313547, 233313644], [233314811, 233314921], [233334684, 233334776], [233335899, 233335937]] [[233152844, 233152900], [233190013, 233190229], [233192977, 233193036], [233225806, 233225936], [233231500, 233231609], [233270758, 233270936], [233275459, 233275601], [233296028, 233296179], [233297016, 233297109], [233313547, 233313644], [233314811, 233314921], [233334684, 233334776], [233335899, 233335937]]
ENST00000429988 [[233161008, 233161145], [233190013, 233190435]] None
ENST00000475463 [[233201206, 233201407], [233270758, 233270936], [233275459, 233275601], [233296028, 233296179], [233297016, 233297109], [233313547, 233313644], [233314811, 233314921], [233334684, 233334776], [233335899, 233336010], [233344263, 233344435], [233353644, 233353677], [233353776, 233353930], [233372590, 233372726], [233386484, 233386578], [233388099, 233388245], [233388386, 233388534], [233393773, 233393898]] [[233353924, 233353930], [233372590, 233372726], [233386484, 233386578], [233388099, 233388245], [233388386, 233388534], [233393773, 233393898]]
ENST00000486012 [[233231402, 233231609], [233270758, 233270936], [233275459, 233275601], [233297016, 233297109], [233313547, 233313581]] [[233275586, 233275601], [233297016, 233297109], [233313547, 233313581]]
ENST00000488780 [[233270529, 233270936], [233275459, 233275601], [233296028, 233296179], [233297016, 233297109], [233313547, 233313644], [233314811, 233314921], [233334684, 233334776], [233335899, 233336010], [233344263, 233344435], [233353644, 233353677], [233353776, 233353833]] [[233270719, 233270936], [233275459, 233275601], [233296028, 233296179], [233297016, 233297109], [233313547, 233313644], [233314811, 233314921], [233334684, 233334776], [233335899, 233336010], [233344263, 233344435], [233353644, 233353677], [233353776, 233353833]]
ENST00000467336 [[233275554, 233275601], [233296028, 233296179], [233297016, 233297109], [233313547, 233313644], [233314811, 233314921], [233316493, 233316742]] None
ENST00000496510 [[233275571, 233275601], [233296028, 233296179], [233297016, 233297109], [233313547, 233313644], [233314811, 233314921], [233316778, 233316848]] None
ENST00000498302 [[233295992, 233296179], [233297016, 233297109], [233313547, 233313644], [233314811, 233314920]] None
ENST00000496675 [[233119880, 233120223], [233121375, 233121630]] None
ENST00000462762 [[233119882, 233120223], [233121256, 233121298]] None
ENST00000497623 [[233134068, 233134184], [233134850, 233135373]] None
ENST00000522067 [[233152818, 233152900], [233160891, 233161378]] None
ENST00000484041 [[233225596, 233225936], [233231500, 233231609], [233270758, 233270934]] None
ENST00000490102 [[233225907, 233225936], [233231500, 233231609], [233248590, 233248712], [233270758, 233270936], [233275459, 233275582]] [[233248685, 233248712], [233270758, 233270936], [233275459, 233275582]]
ENST00000484347 [[233231151, 233231609], [233270758, 233270936], [233275459, 233275601], [233296028, 233296053]] [[233231417, 233231609], [233270758, 233270936], [233275459, 233275601], [233296028, 233296053]]
ENST00000520463 [[233261649, 233261952], [233270758, 233270936], [233275459, 233275601], [233296028, 233296171]] None
ENST00000518351 [[233334712, 233334776], [233335899, 233336010], [233344263, 233344435], [233353776, 233353930], [233362971, 233363015]] [[233334712, 233334776], [233335899, 233336010], [233344263, 233344435], [233353776, 233353930], [233362971, 233363015]]
ENST00000517808 [[233334765, 233334776], [233335899, 233336010], [233344263, 233344356], [233353644, 233353677], [233353776, 233353835]] [[233344311, 233344356], [233353644, 233353677], [233353776, 233353835]]
ENST00000324142 [[233337237, 233337996], [233344263, 233344435], [233353644, 233353677], [233353776, 233353930], [233362971, 233363117], [233372590, 233372726], [233386484, 233386578], [233388099, 233388433]] None
ENST00000430153 [[233337895, 233337996], [233344263, 233344435], [233353644, 233353677], [233353776, 233353930], [233362971, 233363117], [233372590, 233372726], [233386484, 233386578], [233388099, 233388245], [233388386, 233388534], [233393773, 233395090], [233397030, 233397067], [233397790, 233397911], [233398703, 233398909], [233431071, 233431459]] [[233337895, 233337996], [233344263, 233344435], [233353644, 233353677], [233353776, 233353930], [233362971, 233363117], [233372590, 233372726], [233386484, 233386578], [233388099, 233388124]]
ENST00000519530 [[233344404, 233344435], [233353644, 233353930], [233362971, 233363093]] None
NM_014801 [[233119881, 233120223], [233121837, 233122286], [233133996, 233134184], [233134850, 233135125], [233136050, 233136281], [233137282, 233137427], [233150410, 233150523], [233152666, 233152900], [233160891, 233161145], [233190013, 233190229], [233192977, 233193036], [233225806, 233225936], [233231500, 233231609], [233270758, 233270936], [233275459, 233275601], [233296028, 233296179], [233297016, 233297109], [233313547, 233313644], [233314811, 233314921], [233334684, 233334776], [233335899, 233336010], [233344263, 233344435], [233353644, 233353677], [233353776, 233353930], [233362971, 233363117], [233372590, 233372726], [233386484, 233386578], [233388099, 233388245], [233388386, 233388534], [233393773, 233395090], [233397030, 233397067], [233397790, 233397911], [233398703, 233398909], [233431071, 233431459]] [[233120049, 233120223], [233121837, 233122286], [233133996, 233134184], [233134850, 233135125], [233136050, 233136281], [233137282, 233137427], [233150410, 233150523], [233152666, 233152900], [233160891, 233161145], [233190013, 233190229], [233192977, 233193036], [233225806, 233225936], [233231500, 233231609], [233270758, 233270936], [233275459, 233275601], [233296028, 233296179], [233297016, 233297109], [233313547, 233313644], [233314811, 233314921], [233334684, 233334776], [233335899, 233336010], [233344263, 233344435], [233353644, 233353677], [233353776, 233353930], [233362971, 233363117], [233372590, 233372726], [233386484, 233386578], [233388099, 233388245], [233388386, 233388534], [233393773, 233395090], [233397030, 233397067], [233397790, 233397911], [233398703, 233398909], [233431071, 233431224]]
NM_001328607 [[233429759, 233430249], [233431071, 233431459]] [[233430219, 233430249], [233431071, 233431224]]
Promoter
Chrom Start End Description
chr1 233431458 233431489 CAGE_peak_1_at_PCNXL2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I232989 232989382 232992539 0.49 [{'connected_gene': 'NTPCR', 'score': 25.82}, {'connected_gene': 'GC01M232977', 'score': 0.44}, {'connected_gene': 'GC01P233014', 'score': 0.34}, {'connected_gene': 'PCNX2', 'score': 0.06}]
chr1 GH01I233081 233081364 233082526 0.4 [{'connected_gene': 'NTPCR', 'score': 6.56}, {'connected_gene': 'PIR48572', 'score': 0.77}, {'connected_gene': 'GC01P233014', 'score': 0.2}, {'connected_gene': 'PCNX2', 'score': 0.08}]
chr1 GH01I232988 232988144 232989090 0.56 [{'connected_gene': 'NTPCR', 'score': 26.05}, {'connected_gene': 'GC01M232977', 'score': 0.44}, {'connected_gene': 'GC01P233014', 'score': 0.31}, {'connected_gene': 'PCNX2', 'score': 0.06}]
chr1 GH01I233097 233097464 233099137 0.66 [{'connected_gene': 'NTPCR', 'score': 4.8}, {'connected_gene': 'PIR48572', 'score': 0.39}, {'connected_gene': 'GC01P233278', 'score': 0.1}, {'connected_gene': 'PCNX2', 'score': 0.08}]
chr1 GH01I233019 233019430 233020856 0.51 [{'connected_gene': 'NTPCR', 'score': 20.87}, {'connected_gene': 'RNU6-1211P', 'score': 9.44}, {'connected_gene': 'GC01P233014', 'score': 0.44}, {'connected_gene': 'PIR48572', 'score': 0.2}, {'connected_gene': 'PCNX2', 'score': 0.06}]
chr1 GH01I233006 233006430 233006619 0.2 [{'connected_gene': 'NTPCR', 'score': 15.55}, {'connected_gene': 'RNU6-1211P', 'score': 9.7}, {'connected_gene': 'GC01P233014', 'score': 0.44}, {'connected_gene': 'GC01M232977', 'score': 0.31}, {'connected_gene': 'PCNX2', 'score': 0.06}]
chr1 GH01I233288 233288473 233296344 2.16 [{'connected_gene': 'PCNX2', 'score': 560.63}, {'connected_gene': 'MAP3K21', 'score': 12.54}, {'connected_gene': 'NTPCR', 'score': 9.88}, {'connected_gene': 'RPS7P3', 'score': 6.47}, {'connected_gene': 'ENSG00000251508', 'score': 0.77}]
chr1 GH01I233111 233111163 233115799 1.74 [{'connected_gene': 'RPS7P3', 'score': 20.22}, {'connected_gene': 'MAP10', 'score': 9.85}, {'connected_gene': 'PIR48572', 'score': 0.31}, {'connected_gene': 'GC01P233278', 'score': 0.1}, {'connected_gene': 'PCNX2', 'score': 0.09}]
chr1 GH01I233613 233613182 233616424 2.67 [{'connected_gene': 'KCNK1', 'score': 558.65}, {'connected_gene': 'IRF2BP2', 'score': 16.5}, {'connected_gene': 'PCNX2', 'score': 12.82}, {'connected_gene': 'RPS7P3', 'score': 10.71}, {'connected_gene': 'MIR4427', 'score': 0.44}]
chr1 GH01I233005 233005815 233005984 0.49 [{'connected_gene': 'RNU6-1211P', 'score': 9.7}, {'connected_gene': 'GC01P233014', 'score': 0.44}, {'connected_gene': 'GC01M232977', 'score': 0.34}, {'connected_gene': 'PCNX2', 'score': 0.06}]
chr1 GH01I233245 233244195 233244424 0.84 [{'connected_gene': 'ENSG00000251508', 'score': 10.18}, {'connected_gene': 'PCNX2', 'score': 10.18}, {'connected_gene': 'GC01P233278', 'score': 0.29}, {'connected_gene': 'PIR48572', 'score': 0.1}]
chr1 GH01I233243 233243001 233243399 0.98 [{'connected_gene': 'ENSG00000251508', 'score': 10.18}, {'connected_gene': 'PCNX2', 'score': 10.18}, {'connected_gene': 'GC01P233278', 'score': 0.29}, {'connected_gene': 'PIR48572', 'score': 0.1}]
chr1 GH01I233241 233241001 233241471 0.83 [{'connected_gene': 'ENSG00000251508', 'score': 10.58}, {'connected_gene': 'PCNX2', 'score': 10.58}, {'connected_gene': 'GC01P233278', 'score': 0.28}, {'connected_gene': 'PIR48572', 'score': 0.1}]
chr1 GH01I233244 233244875 233245750 0.49 [{'connected_gene': 'ENSG00000251508', 'score': 10.18}, {'connected_gene': 'PCNX2', 'score': 10.18}, {'connected_gene': 'GC01P233278', 'score': 0.29}, {'connected_gene': 'PIR48572', 'score': 0.1}]
chr1 GH01I233179 233179201 233180400 0.65 [{'connected_gene': 'PIR48572', 'score': 0.16}, {'connected_gene': 'GC01P233278', 'score': 0.15}, {'connected_gene': 'PCNX2', 'score': 0.13}]
chr1 GH01I233065 233065095 233065244 0.2 [{'connected_gene': 'PIR48572', 'score': 0.34}, {'connected_gene': 'GC01P233014', 'score': 0.23}, {'connected_gene': 'PCNX2', 'score': 0.07}]
chr1 GH01I233025 233025335 233025464 0.54 [{'connected_gene': 'GC01P233014', 'score': 0.39}, {'connected_gene': 'PIR48572', 'score': 0.21}, {'connected_gene': 'PCNX2', 'score': 0.06}]
chr1 GH01I233199 233199602 233200820 0.31 [{'connected_gene': 'GC01P233278', 'score': 0.18}, {'connected_gene': 'PCNX2', 'score': 0.15}, {'connected_gene': 'PIR48572', 'score': 0.14}]
chr1 GH01I233085 233085487 233086273 0.4 [{'connected_gene': 'PIR48572', 'score': 550.77}, {'connected_gene': 'GC01P233014', 'score': 0.19}, {'connected_gene': 'PCNX2', 'score': 0.08}]
chr1 GH01I233107 233107081 233108635 0.96 [{'connected_gene': 'PIR48572', 'score': 0.34}, {'connected_gene': 'GC01P233278', 'score': 0.09}, {'connected_gene': 'PCNX2', 'score': 0.09}]
chr1 GH01I233075 233075115 233075324 0.46 [{'connected_gene': 'PIR48572', 'score': 0.39}, {'connected_gene': 'GC01P233014', 'score': 0.21}, {'connected_gene': 'PCNX2', 'score': 0.07}]
chr1 GH01I233252 233252801 233253000 0.4 [{'connected_gene': 'GC01P233278', 'score': 0.31}, {'connected_gene': 'PCNX2', 'score': 0.26}, {'connected_gene': 'PIR48572', 'score': 0.1}]
chr1 GH01I233181 233181095 233181144 0.38 [{'connected_gene': 'PIR48572', 'score': 0.16}, {'connected_gene': 'GC01P233278', 'score': 0.15}, {'connected_gene': 'PCNX2', 'score': 0.14}]
chr1 GH01I233247 233247215 233247364 0.4 [{'connected_gene': 'GC01P233278', 'score': 0.29}, {'connected_gene': 'PCNX2', 'score': 0.25}, {'connected_gene': 'PIR48572', 'score': 0.1}]
chr1 GH01I233281 233281601 233282400 0.46 [{'connected_gene': 'GC01P233278', 'score': 0.77}, {'connected_gene': 'RPS7P3', 'score': 0.44}, {'connected_gene': 'PCNX2', 'score': 0.39}]

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