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
ENST00000341349 [[140317801, 140318158], [140320699, 140320782], [140322484, 140322593], [140323333, 140323468], [140323727, 140323835], [140325235, 140325295], [140325526, 140325552], [140325687, 140325793], [140327480, 140327526], [140327656, 140327715], [140327904, 140328059], [140328201, 140328316], [140328416, 140328531], [140328654, 140328858]] [[140317981, 140318158], [140320699, 140320782], [140322484, 140322593], [140323333, 140323468], [140323727, 140323835], [140325235, 140325295], [140325526, 140325552], [140325687, 140325793], [140327480, 140327526], [140327656, 140327715], [140327904, 140328059], [140328201, 140328316], [140328416, 140328531], [140328654, 140328812]]
ENST00000392815 [[140317846, 140318158], [140320699, 140320782], [140322484, 140322593], [140323333, 140323468], [140325526, 140325552], [140325687, 140325793], [140327480, 140327526], [140327656, 140327715], [140327904, 140328059], [140328201, 140328316], [140328416, 140328531], [140328654, 140328857]] [[140317981, 140318158], [140320699, 140320782], [140322484, 140322593], [140323333, 140323468], [140325526, 140325552], [140325687, 140325793], [140327480, 140327526], [140327656, 140327715], [140327904, 140328059], [140328201, 140328316], [140328416, 140328531], [140328654, 140328812]]
NM_001256068 [[140317846, 140318158], [140320699, 140320782], [140322484, 140322593], [140323333, 140323468], [140325526, 140325552], [140325687, 140325793], [140327480, 140327526], [140327656, 140327715], [140327904, 140328059], [140328201, 140328316], [140328416, 140328531], [140328654, 140328858]] [[140317981, 140318158], [140320699, 140320782], [140322484, 140322593], [140323333, 140323468], [140325526, 140325552], [140325687, 140325793], [140327480, 140327526], [140327656, 140327715], [140327904, 140328059], [140328201, 140328316], [140328416, 140328531], [140328654, 140328812]]
NM_001256067 [[140317846, 140318158], [140320699, 140320782], [140322484, 140322593], [140323333, 140323468], [140323727, 140323835], [140325235, 140325295], [140325526, 140325552], [140325687, 140325793], [140327480, 140327526], [140327656, 140327715], [140327904, 140328059], [140328201, 140328316], [140328416, 140328531], [140328675, 140328858]] [[140317981, 140318158], [140320699, 140320782], [140322484, 140322593], [140323333, 140323468], [140323727, 140323835], [140325235, 140325295], [140325526, 140325552], [140325687, 140325793], [140327480, 140327526], [140327656, 140327715], [140327904, 140328059], [140328201, 140328316], [140328416, 140328531], [140328675, 140328812]]
NM_006647 [[140317846, 140318158], [140320699, 140320782], [140322484, 140322593], [140323333, 140323468], [140323727, 140323835], [140325235, 140325295], [140325526, 140325552], [140325687, 140325793], [140327480, 140327526], [140327656, 140327715], [140327904, 140328059], [140328201, 140328316], [140328416, 140328531], [140328654, 140328858]] [[140317981, 140318158], [140320699, 140320782], [140322484, 140322593], [140323333, 140323468], [140323727, 140323835], [140325235, 140325295], [140325526, 140325552], [140325687, 140325793], [140327480, 140327526], [140327656, 140327715], [140327904, 140328059], [140328201, 140328316], [140328416, 140328531], [140328654, 140328812]]
Promoter
Chrom Start End Description
chr9 140317828 140317894 CAGE_peak_1_at_NOXA1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I137686 137685629 137685878 0.49 [{'connected_gene': 'DPH7', 'score': 26.24}, {'connected_gene': 'EHMT1', 'score': 24.55}, {'connected_gene': 'EXD3', 'score': 22.7}, {'connected_gene': 'ANAPC2', 'score': 16.93}, {'connected_gene': 'MAN1B1', 'score': 13.58}, {'connected_gene': 'SNHG7', 'score': 12.78}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.57}, {'connected_gene': 'ARRDC1', 'score': 11.54}, {'connected_gene': 'ZMYND19', 'score': 11.18}, {'connected_gene': 'CCDC183-AS1', 'score': 9.78}, {'connected_gene': 'NOXA1', 'score': 9.55}, {'connected_gene': 'SETP5', 'score': 0.26}, {'connected_gene': 'GC09P137764', 'score': 0.18}, {'connected_gene': 'ENSG00000283411', 'score': 0.18}, {'connected_gene': 'GC09M137538', 'score': 0.12}]
chr9 GH09I137491 137491625 137494634 1.56 [{'connected_gene': 'EHMT1', 'score': 13.37}, {'connected_gene': 'DPH7', 'score': 10.9}, {'connected_gene': 'SNHG7', 'score': 10.63}, {'connected_gene': 'ANAPC2', 'score': 10.07}, {'connected_gene': 'FUT7', 'score': 2.53}, {'connected_gene': 'DPP7', 'score': 1.83}, {'connected_gene': 'SAPCD2', 'score': 1.83}, {'connected_gene': 'NOXA1', 'score': 1.8}, {'connected_gene': 'UAP1L1', 'score': 1.68}, {'connected_gene': 'NDOR1', 'score': 1.55}, {'connected_gene': 'PIR51097', 'score': 0.37}, {'connected_gene': 'PIR37479', 'score': 0.31}, {'connected_gene': 'PNPLA7', 'score': 0.22}]
chr9 GH09I137685 137685189 137685338 0.7 [{'connected_gene': 'EHMT1', 'score': 11.57}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.57}, {'connected_gene': 'ARRDC1', 'score': 11.55}, {'connected_gene': 'ZMYND19', 'score': 11.18}, {'connected_gene': 'EXD3', 'score': 9.55}, {'connected_gene': 'NOXA1', 'score': 9.55}, {'connected_gene': 'SETP5', 'score': 0.26}, {'connected_gene': 'GC09P137764', 'score': 0.18}, {'connected_gene': 'ENSG00000283411', 'score': 0.18}, {'connected_gene': 'GC09M137538', 'score': 0.12}]
chr9 GH09I137687 137686189 137686296 0.31 [{'connected_gene': 'EHMT1', 'score': 11.57}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.57}, {'connected_gene': 'ARRDC1', 'score': 11.54}, {'connected_gene': 'ZMYND19', 'score': 11.18}, {'connected_gene': 'EXD3', 'score': 9.55}, {'connected_gene': 'NOXA1', 'score': 9.55}, {'connected_gene': 'SETP5', 'score': 0.26}, {'connected_gene': 'GC09P137764', 'score': 0.18}, {'connected_gene': 'ENSG00000283411', 'score': 0.18}, {'connected_gene': 'GC09M137538', 'score': 0.12}]
chr9 GH09I137678 137678234 137681918 1.12 [{'connected_gene': 'EHMT1', 'score': 42.52}, {'connected_gene': 'ZMYND19', 'score': 16.68}, {'connected_gene': 'ARRDC1-AS1', 'score': 12.09}, {'connected_gene': 'ARRDC1', 'score': 12.07}, {'connected_gene': 'EXD3', 'score': 9.56}, {'connected_gene': 'NOXA1', 'score': 9.56}, {'connected_gene': 'SETP5', 'score': 0.28}, {'connected_gene': 'ENSG00000283411', 'score': 0.19}, {'connected_gene': 'GC09P137764', 'score': 0.18}, {'connected_gene': 'GC09M137538', 'score': 0.12}]
chr9 GH09I137405 137405726 137408319 1.55 [{'connected_gene': 'INPP5E', 'score': 15.66}, {'connected_gene': 'EXD3', 'score': 14.83}, {'connected_gene': 'NOXA1', 'score': 12.42}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.8}, {'connected_gene': 'DPH7', 'score': 11.75}, {'connected_gene': 'NRARP', 'score': 2.69}, {'connected_gene': 'CACNA1B', 'score': 1.53}, {'connected_gene': 'GC09M137332', 'score': 0.21}]
chr9 GH09I137309 137309450 137322113 1.61 [{'connected_gene': 'EXD3', 'score': 33.63}, {'connected_gene': 'INPP5E', 'score': 26.47}, {'connected_gene': 'DPH7', 'score': 17.01}, {'connected_gene': 'NOXA1', 'score': 14.09}, {'connected_gene': 'ARRDC1-AS1', 'score': 13.84}, {'connected_gene': 'NPDC1', 'score': 11.88}, {'connected_gene': 'SNAPC4', 'score': 11.86}, {'connected_gene': 'ANAPC2', 'score': 11.4}, {'connected_gene': 'MAN1B1', 'score': 9.94}, {'connected_gene': 'CCDC183-AS1', 'score': 9.8}, {'connected_gene': 'NRARP', 'score': 4.97}, {'connected_gene': 'PNPLA7', 'score': 1.61}, {'connected_gene': 'GC09M137332', 'score': 0.31}]
chr9 GH09I137338 137338885 137340784 0.38 [{'connected_gene': 'EXD3', 'score': 11.18}, {'connected_gene': 'NOXA1', 'score': 11.18}, {'connected_gene': 'DPH7', 'score': 10.36}, {'connected_gene': 'GC09M137332', 'score': 0.77}, {'connected_gene': 'NRARP', 'score': 0.28}]
chr9 GH09I137282 137282428 137283516 0.46 [{'connected_gene': 'EXD3', 'score': 11.79}, {'connected_gene': 'NOXA1', 'score': 11.79}, {'connected_gene': 'TOR4A', 'score': 4.88}, {'connected_gene': 'GC09P137287', 'score': 0.77}]
chr9 GH09I137441 137441309 137442234 1.92 [{'connected_gene': 'ENTPD8', 'score': 550.77}, {'connected_gene': 'NOXA1', 'score': 14.07}, {'connected_gene': 'DPH7', 'score': 10.08}, {'connected_gene': 'ANAPC2', 'score': 9.73}]
chr9 GH09I137438 137437558 137438087 0.52 [{'connected_gene': 'ENTPD8', 'score': 0.77}, {'connected_gene': 'NOXA1', 'score': 0.39}]
chr9 GH09I137437 137437049 137437198 0.58 [{'connected_gene': 'ENTPD8', 'score': 0.77}, {'connected_gene': 'NOXA1', 'score': 0.39}]
chr9 GH09I137682 137682437 137683000 1.05 [{'connected_gene': 'PNPLA7', 'score': 14.64}, {'connected_gene': 'EHMT1', 'score': 11.58}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.58}, {'connected_gene': 'ARRDC1', 'score': 11.55}, {'connected_gene': 'ZMYND19', 'score': 11.18}, {'connected_gene': 'EXD3', 'score': 9.56}, {'connected_gene': 'NOXA1', 'score': 9.56}, {'connected_gene': 'SETP5', 'score': 0.26}, {'connected_gene': 'ENSG00000283411', 'score': 0.18}, {'connected_gene': 'GC09P137764', 'score': 0.18}, {'connected_gene': 'GC09M137538', 'score': 0.12}]
chr9 GH09I137265 137265665 137267574 0.49 [{'connected_gene': 'NELFB', 'score': 23.82}, {'connected_gene': 'TUBB4B', 'score': 13.39}, {'connected_gene': 'SLC34A3', 'score': 13.35}, {'connected_gene': 'NOXA1', 'score': 11.63}, {'connected_gene': 'EXD3', 'score': 11.32}, {'connected_gene': 'TOR4A', 'score': 0.39}]
chr9 GH09I137425 137425709 137425798 0.8 [{'connected_gene': 'NOXA1', 'score': 16.95}, {'connected_gene': 'INPP5E', 'score': 11.71}, {'connected_gene': 'ENTPD8', 'score': 0.37}]
chr9 GH09I137422 137422027 137425358 2.27 [{'connected_gene': 'NOXA1', 'score': 569.97}, {'connected_gene': 'EXD3', 'score': 556.49}, {'connected_gene': 'NPDC1', 'score': 10.94}, {'connected_gene': 'AJM1', 'score': 10.85}, {'connected_gene': 'CACNA1B', 'score': 9.69}, {'connected_gene': 'ENTPD8', 'score': 0.37}]
chr9 GH09I137408 137408945 137409291 0.24 [{'connected_gene': 'NOXA1', 'score': 14.8}, {'connected_gene': 'EXD3', 'score': 0.39}, {'connected_gene': 'GC09M137332', 'score': 0.2}]
chr9 GH09I137429 137429851 137430363 0.78 [{'connected_gene': 'NOXA1', 'score': 16.08}, {'connected_gene': 'ENTPD8', 'score': 0.39}]
chr9 GH09I137439 137439208 137439580 0.49 [{'connected_gene': 'NOXA1', 'score': 9.93}, {'connected_gene': 'ENTPD8', 'score': 0.77}]
chr9 GH09I137435 137435590 137436738 1.05 [{'connected_gene': 'NOXA1', 'score': 5.1}, {'connected_gene': 'ENTPD8', 'score': 0.44}]
chr9 GH09I137478 137478849 137478998 0.51 [{'connected_gene': 'NOXA1', 'score': 7.81}, {'connected_gene': 'PIR37479', 'score': 0.39}, {'connected_gene': 'PIR51097', 'score': 0.29}, {'connected_gene': 'PNPLA7', 'score': 0.19}]
chr9 GH09I137486 137486529 137489533 0.59 [{'connected_gene': 'NOXA1', 'score': 6.39}, {'connected_gene': 'PIR37479', 'score': 0.34}, {'connected_gene': 'PIR51097', 'score': 0.34}, {'connected_gene': 'PNPLA7', 'score': 0.21}]
chr9 GH09I137484 137484405 137486490 0.46 [{'connected_gene': 'NOXA1', 'score': 6.02}, {'connected_gene': 'PIR37479', 'score': 0.34}, {'connected_gene': 'PIR51097', 'score': 0.34}, {'connected_gene': 'PNPLA7', 'score': 0.2}]
chr9 GH09I137461 137461041 137463693 1.07 [{'connected_gene': 'NOXA1', 'score': 9.32}, {'connected_gene': 'PIR37479', 'score': 0.77}, {'connected_gene': 'NSMF', 'score': 0.77}, {'connected_gene': 'PNPLA7', 'score': 0.17}]
chr9 GH09I137453 137453597 137455749 1.64 [{'connected_gene': 'NOXA1', 'score': 12.49}, {'connected_gene': 'NSMF', 'score': 0.77}, {'connected_gene': 'MIR7114', 'score': 0.77}]
chr9 GH09I137410 137410541 137413916 1.56 [{'connected_gene': 'NOXA1', 'score': 15.96}, {'connected_gene': 'TRAF2', 'score': 5.28}, {'connected_gene': 'NRARP', 'score': 1.87}, {'connected_gene': 'EXD3', 'score': 0.39}, {'connected_gene': 'GC09M137332', 'score': 0.2}]
chr9 GH09I137233 137233373 137243238 2.65 [{'connected_gene': 'TUBB4B', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 90.39}, {'connected_gene': 'SDCCAG3', 'score': 59.97}, {'connected_gene': 'ANAPC2', 'score': 50.98}, {'connected_gene': 'NDOR1', 'score': 50.56}, {'connected_gene': 'DPH7', 'score': 40.53}, {'connected_gene': 'INPP5E', 'score': 40.02}, {'connected_gene': 'LOC651337', 'score': 36.84}, {'connected_gene': 'MAN1B1', 'score': 26.89}, {'connected_gene': 'SNHG7', 'score': 26.01}, {'connected_gene': 'SEC16A', 'score': 26.0}, {'connected_gene': 'EXD3', 'score': 13.5}, {'connected_gene': 'TRAF2', 'score': 10.75}, {'connected_gene': 'TMEM203', 'score': 10.34}, {'connected_gene': 'RABL6', 'score': 10.31}, {'connected_gene': 'NELFB', 'score': 8.98}, {'connected_gene': 'LCN15', 'score': 8.35}, {'connected_gene': 'ABCA2', 'score': 7.81}, {'connected_gene': 'TOR4A', 'score': 6.36}, {'connected_gene': 'UAP1L1', 'score': 6.25}, {'connected_gene': 'RNF224', 'score': 5.79}, {'connected_gene': 'CYSRT1', 'score': 5.23}, {'connected_gene': 'MRPL41', 'score': 5.19}, {'connected_gene': 'ZMYND19', 'score': 4.53}, {'connected_gene': 'PNPLA7', 'score': 3.77}, {'connected_gene': 'TPRN', 'score': 3.5}, {'connected_gene': 'LCNL1', 'score': 3.04}, {'connected_gene': 'ENTPD8', 'score': 2.25}, {'connected_gene': 'RNF208', 'score': 1.83}, {'connected_gene': 'DPP7', 'score': 1.81}, {'connected_gene': 'GRIN1', 'score': 1.71}, {'connected_gene': 'AJM1', 'score': 1.66}, {'connected_gene': 'NPDC1', 'score': 1.59}, {'connected_gene': 'NOXA1', 'score': 1.58}, {'connected_gene': 'PTGDS', 'score': 1.41}, {'connected_gene': 'ENTPD2', 'score': 1.26}, {'connected_gene': 'NSMF', 'score': 1.23}, {'connected_gene': 'SLC34A3', 'score': 0.44}]
chr9 GH09I137450 137450024 137452568 0.95 [{'connected_gene': 'MIR7114', 'score': 550.77}, {'connected_gene': 'NOXA1', 'score': 8.49}, {'connected_gene': 'TOR4A', 'score': 4.56}, {'connected_gene': 'NSMF', 'score': 0.44}]

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