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
ENST00000371600 [[139933921, 139934316], [139934422, 139934519], [139934808, 139934888], [139934965, 139935050], [139935122, 139935189], [139935265, 139935436], [139935513, 139935639], [139937378, 139938544]] [[139934223, 139934316], [139934422, 139934519], [139934808, 139934888], [139934965, 139935050], [139935122, 139935189], [139935265, 139935436], [139935513, 139935639], [139937378, 139937871]]
ENST00000371601 [[139933921, 139934316], [139934422, 139934519], [139934808, 139934888], [139934965, 139935050], [139935122, 139935189], [139935265, 139935436], [139935513, 139935639], [139937378, 139937525], [139940329, 139940655]] [[139934223, 139934316], [139934422, 139934519], [139934808, 139934888], [139934965, 139935050], [139935122, 139935189], [139935265, 139935436], [139935513, 139935639], [139937378, 139937525], [139940329, 139940441]]
ENST00000496498 [[139934119, 139934316], [139934422, 139934608]] None
ENST00000472668 [[139934135, 139934316], [139934422, 139934577], [139934808, 139934830]] None
ENST00000488145 [[139935264, 139935639], [139937378, 139937525], [139940329, 139940508]] None
ENST00000485589 [[139937321, 139937525], [139940329, 139940631]] None
NM_015392 [[139933908, 139934316], [139934422, 139934519], [139934808, 139934888], [139934965, 139935050], [139935122, 139935189], [139935265, 139935436], [139935513, 139935639], [139937378, 139937525], [139940329, 139940676]] [[139934223, 139934316], [139934422, 139934519], [139934808, 139934888], [139934965, 139935050], [139935122, 139935189], [139935265, 139935436], [139935513, 139935639], [139937378, 139937525], [139940329, 139940441]]
Promoter
Chrom Start End Description
chr9 139937521 139937538 CAGE_peak_8_at_NPDC1_5end
chr9 139937688 139937698 CAGE_peak_15_at_NPDC1_5end
chr9 139940414 139940423 CAGE_peak_7_at_NPDC1_5end
chr9 139940480 139940605 CAGE_peak_2_at_NPDC1_5end
chr9 139940608 139940686 CAGE_peak_1_at_NPDC1_5end
chr9 139940990 139941047 CAGE_peak_4_at_NPDC1_5end
chr9 139941115 139941152 CAGE_peak_3_at_NPDC1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I137689 137689621 137690272 0.87 [{'connected_gene': 'DPH7', 'score': 34.32}, {'connected_gene': 'EHMT1', 'score': 28.86}, {'connected_gene': 'ANAPC2', 'score': 27.39}, {'connected_gene': 'MAN1B1', 'score': 21.69}, {'connected_gene': 'SNHG7', 'score': 21.41}, {'connected_gene': 'EXD3', 'score': 13.2}, {'connected_gene': 'NPDC1', 'score': 12.77}, {'connected_gene': 'CCDC183-AS1', 'score': 9.78}, {'connected_gene': 'FAM69B', 'score': 9.68}, {'connected_gene': 'SETP5', 'score': 0.25}, {'connected_gene': 'GC09P137764', 'score': 0.19}, {'connected_gene': 'ENSG00000283411', 'score': 0.18}, {'connected_gene': 'GC09M137538', 'score': 0.13}]
chr9 GH09I137692 137690289 137690338 0.87 [{'connected_gene': 'DPH7', 'score': 26.23}, {'connected_gene': 'ANAPC2', 'score': 16.92}, {'connected_gene': 'MAN1B1', 'score': 13.58}, {'connected_gene': 'EXD3', 'score': 13.2}, {'connected_gene': 'EHMT1', 'score': 13.17}, {'connected_gene': 'SNHG7', 'score': 12.78}, {'connected_gene': 'NPDC1', 'score': 12.77}, {'connected_gene': 'CCDC183-AS1', 'score': 9.78}, {'connected_gene': 'FAM69B', 'score': 9.68}, {'connected_gene': 'SETP5', 'score': 0.25}, {'connected_gene': 'GC09P137764', 'score': 0.19}, {'connected_gene': 'ENSG00000283411', 'score': 0.18}, {'connected_gene': 'GC09M137538', 'score': 0.13}]
chr9 GH09I136725 136725412 136729483 1.61 [{'connected_gene': 'SNHG7', 'score': 631.93}, {'connected_gene': 'SNORA17B', 'score': 550.77}, {'connected_gene': 'GC09M136755', 'score': 550.77}, {'connected_gene': 'GC09M136756', 'score': 550.77}, {'connected_gene': 'GC09M136753', 'score': 550.77}, {'connected_gene': 'ENSG00000281808', 'score': 550.77}, {'connected_gene': 'SNORA17A', 'score': 550.77}, {'connected_gene': 'DPH7', 'score': 50.64}, {'connected_gene': 'EHMT1', 'score': 43.65}, {'connected_gene': 'ANAPC2', 'score': 36.66}, {'connected_gene': 'LCN8', 'score': 32.59}, {'connected_gene': 'EXD3', 'score': 30.76}, {'connected_gene': 'INPP5E', 'score': 29.7}, {'connected_gene': 'SEC16A', 'score': 21.48}, {'connected_gene': 'SDCCAG3', 'score': 20.93}, {'connected_gene': 'NPDC1', 'score': 20.48}, {'connected_gene': 'QSOX2', 'score': 19.84}, {'connected_gene': 'MAN1B1', 'score': 19.63}, {'connected_gene': 'CCDC183-AS1', 'score': 19.13}, {'connected_gene': 'NDOR1', 'score': 19.0}, {'connected_gene': 'FAM166A', 'score': 11.79}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.16}, {'connected_gene': 'AJM1', 'score': 10.95}, {'connected_gene': 'SNAPC4', 'score': 10.05}, {'connected_gene': 'STPG3', 'score': 9.75}, {'connected_gene': 'ENSG00000274356', 'score': 0.77}]
chr9 GH09I136631 136631489 136632162 0.99 [{'connected_gene': 'EHMT1', 'score': 56.46}, {'connected_gene': 'SNHG7', 'score': 38.98}, {'connected_gene': 'SDCCAG3', 'score': 34.19}, {'connected_gene': 'ANAPC2', 'score': 32.34}, {'connected_gene': 'SEC16A', 'score': 27.1}, {'connected_gene': 'DPH7', 'score': 21.45}, {'connected_gene': 'NDOR1', 'score': 13.35}, {'connected_gene': 'LCN6', 'score': 12.28}, {'connected_gene': 'ABCA2', 'score': 12.14}, {'connected_gene': 'MAN1B1', 'score': 11.8}, {'connected_gene': 'LCN10', 'score': 11.78}, {'connected_gene': 'NPDC1', 'score': 10.94}, {'connected_gene': 'AJM1', 'score': 10.9}, {'connected_gene': 'LINC01451', 'score': 0.39}, {'connected_gene': 'LOC105376325', 'score': 0.39}]
chr9 GH09I136358 136358864 136364338 2.06 [{'connected_gene': 'DNLZ', 'score': 594.92}, {'connected_gene': 'INPP5E', 'score': 45.27}, {'connected_gene': 'ANAPC2', 'score': 25.48}, {'connected_gene': 'SNHG7', 'score': 23.44}, {'connected_gene': 'NPDC1', 'score': 20.45}, {'connected_gene': 'SDCCAG3', 'score': 19.51}, {'connected_gene': 'MAN1B1', 'score': 19.47}, {'connected_gene': 'SNAPC4', 'score': 19.35}, {'connected_gene': 'CARD9', 'score': 15.79}, {'connected_gene': 'AJM1', 'score': 10.87}, {'connected_gene': 'LOC101928525', 'score': 10.58}, {'connected_gene': 'SEC16A', 'score': 10.23}, {'connected_gene': 'QSOX2', 'score': 10.02}, {'connected_gene': 'SAPCD2', 'score': 4.95}, {'connected_gene': 'GC09M136338', 'score': 0.39}, {'connected_gene': 'GPSM1', 'score': 0.29}]
chr9 GH09I137221 137221486 137232704 2.85 [{'connected_gene': 'RNF224', 'score': 556.63}, {'connected_gene': 'SLC34A3', 'score': 555.96}, {'connected_gene': 'EHMT1', 'score': 17.44}, {'connected_gene': 'LOC651337', 'score': 15.59}, {'connected_gene': 'SDCCAG3', 'score': 15.1}, {'connected_gene': 'ANAPC2', 'score': 12.28}, {'connected_gene': 'RNF208', 'score': 7.2}, {'connected_gene': 'CYSRT1', 'score': 7.15}, {'connected_gene': 'NDOR1', 'score': 6.77}, {'connected_gene': 'MRPL41', 'score': 5.76}, {'connected_gene': 'GRIN1', 'score': 3.3}, {'connected_gene': 'FBXW5', 'score': 2.93}, {'connected_gene': 'NSMF', 'score': 2.57}, {'connected_gene': 'NPDC1', 'score': 2.53}, {'connected_gene': 'ARRDC1-AS1', 'score': 2.52}, {'connected_gene': 'DPH7', 'score': 1.92}, {'connected_gene': 'TPRN', 'score': 1.77}, {'connected_gene': 'NELFB', 'score': 1.57}, {'connected_gene': 'RABL6', 'score': 1.51}, {'connected_gene': 'ABCA2', 'score': 1.5}, {'connected_gene': 'TMEM203', 'score': 1.43}, {'connected_gene': 'SSNA1', 'score': 1.43}]
chr9 GH09I137042 137042828 137047278 2.01 [{'connected_gene': 'NPDC1', 'score': 557.26}, {'connected_gene': 'UAP1L1', 'score': 19.1}, {'connected_gene': 'MAN1B1', 'score': 14.41}, {'connected_gene': 'FUT7', 'score': 6.73}, {'connected_gene': 'ENSG00000279073', 'score': 0.77}]
chr9 GH09I136608 136608463 136612115 0.76 [{'connected_gene': 'NPDC1', 'score': 5.47}, {'connected_gene': 'MAMDC4', 'score': 4.83}, {'connected_gene': 'LINC01451', 'score': 0.44}, {'connected_gene': 'MIR4674', '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 GH09I137021 137021549 137022772 1.28 [{'connected_gene': 'LCNL1', 'score': 5.94}, {'connected_gene': 'NPDC1', 'score': 5.73}, {'connected_gene': 'C9orf139', 'score': 0.44}, {'connected_gene': 'ABCA2', 'score': 0.44}, {'connected_gene': 'PIR32105', 'score': 0.44}]
chr9 GH09I137160 137160773 137166026 0.87 [{'connected_gene': 'DPP7', 'score': 17.29}, {'connected_gene': 'SSNA1', 'score': 12.75}, {'connected_gene': 'ANAPC2', 'score': 12.75}, {'connected_gene': 'TPRN', 'score': 12.7}, {'connected_gene': 'GRIN1', 'score': 12.48}, {'connected_gene': 'MAN1B1', 'score': 12.35}, {'connected_gene': 'NDOR1', 'score': 11.94}, {'connected_gene': 'TMEM203', 'score': 11.94}, {'connected_gene': 'NPDC1', 'score': 5.71}, {'connected_gene': 'EXD3', 'score': 5.58}, {'connected_gene': 'UAP1L1', 'score': 4.82}, {'connected_gene': 'LOC105376328', 'score': 0.44}, {'connected_gene': 'MIR3621', 'score': 0.44}]
chr9 GH09I137216 137216433 137220126 1.43 [{'connected_gene': 'NDOR1', 'score': 8.74}, {'connected_gene': 'RNF208', 'score': 7.55}, {'connected_gene': 'CYSRT1', 'score': 6.7}, {'connected_gene': 'NPDC1', 'score': 4.6}]
chr9 GH09I136895 136895718 136897727 0.43 [{'connected_gene': 'FUT7', 'score': 11.86}, {'connected_gene': 'ABCA2', 'score': 11.86}, {'connected_gene': 'NPDC1', 'score': 11.85}, {'connected_gene': 'ENTPD2', 'score': 11.84}, {'connected_gene': 'TMEM141', 'score': 11.67}, {'connected_gene': 'PAXX', 'score': 7.41}, {'connected_gene': 'PHPT1', 'score': 6.39}, {'connected_gene': 'MIR4479', 'score': 0.44}, {'connected_gene': 'TRAF2', 'score': 0.39}, {'connected_gene': 'PIR43412', 'score': 0.31}]
chr9 GH09I136894 136894223 136895577 0.2 [{'connected_gene': 'FUT7', 'score': 11.86}, {'connected_gene': 'ABCA2', 'score': 11.86}, {'connected_gene': 'NPDC1', 'score': 11.84}, {'connected_gene': 'ENTPD2', 'score': 11.84}, {'connected_gene': 'PAXX', 'score': 7.41}, {'connected_gene': 'MIR4479', 'score': 0.44}, {'connected_gene': 'TRAF2', 'score': 0.39}, {'connected_gene': 'PIR43412', 'score': 0.31}]
chr9 GH09I136712 136712200 136716229 2.08 [{'connected_gene': 'FAM69B', 'score': 559.93}, {'connected_gene': 'EGFL7', 'score': 14.36}, {'connected_gene': 'LCN8', 'score': 11.04}, {'connected_gene': 'NPDC1', 'score': 1.63}, {'connected_gene': 'INPP5E', 'score': 1.55}, {'connected_gene': 'SNAPC4', 'score': 1.4}, {'connected_gene': 'SNORA17B', 'score': 0.39}, {'connected_gene': 'GC09M136753', 'score': 0.39}]
chr9 GH09I136711 136711269 136712178 1.12 [{'connected_gene': 'FAM69B', 'score': 550.77}, {'connected_gene': 'AGPAT2', 'score': 13.63}, {'connected_gene': 'NPDC1', 'score': 10.95}, {'connected_gene': 'AJM1', 'score': 10.94}, {'connected_gene': 'ABCA2', 'score': 2.45}, {'connected_gene': 'LCNL1', 'score': 2.12}, {'connected_gene': 'FUT7', 'score': 1.6}, {'connected_gene': 'PAXX', 'score': 1.51}, {'connected_gene': 'CCDC183', 'score': 1.44}, {'connected_gene': 'CLIC3', 'score': 1.33}]
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 GH09I136684 136684804 136689503 2.2 [{'connected_gene': 'AGPAT2', 'score': 559.08}, {'connected_gene': 'DPH7', 'score': 26.69}, {'connected_gene': 'INPP5E', 'score': 20.07}, {'connected_gene': 'EXD3', 'score': 14.9}, {'connected_gene': 'ARRDC1-AS1', 'score': 13.16}, {'connected_gene': 'ANAPC2', 'score': 12.88}, {'connected_gene': 'QSOX2', 'score': 11.45}, {'connected_gene': 'NPDC1', 'score': 10.94}, {'connected_gene': 'AJM1', 'score': 10.93}, {'connected_gene': 'SNAPC4', 'score': 10.33}, {'connected_gene': 'MAN1B1', 'score': 9.69}, {'connected_gene': 'MIR126', 'score': 0.37}]
chr9 GH09I137051 137051912 137056498 1.61 [{'connected_gene': 'LOC105376327', 'score': 550.77}, {'connected_gene': 'ENTPD2', 'score': 550.77}, {'connected_gene': 'MAN1B1', 'score': 27.18}, {'connected_gene': 'UAP1L1', 'score': 18.15}, {'connected_gene': 'DPP7', 'score': 11.89}, {'connected_gene': 'GRIN1', 'score': 11.85}, {'connected_gene': 'CCDC183', 'score': 10.84}, {'connected_gene': 'RABL6', 'score': 10.84}, {'connected_gene': 'NPDC1', 'score': 8.04}, {'connected_gene': 'ENSG00000229257', 'score': 0.77}]
chr9 GH09I136642 136642201 136647978 1.76 [{'connected_gene': 'LOC105376325', 'score': 550.77}, {'connected_gene': 'EGFL7', 'score': 29.86}, {'connected_gene': 'AGPAT2', 'score': 19.11}, {'connected_gene': 'FAM69B', 'score': 16.77}, {'connected_gene': 'SEC16A', 'score': 14.9}, {'connected_gene': 'C9orf163', 'score': 12.08}, {'connected_gene': 'MAN1B1', 'score': 5.11}, {'connected_gene': 'ARRDC1-AS1', 'score': 5.06}, {'connected_gene': 'NOTCH1', 'score': 4.06}, {'connected_gene': 'UAP1L1', 'score': 3.23}, {'connected_gene': 'CARD9', 'score': 2.72}, {'connected_gene': 'INPP5E', 'score': 1.72}, {'connected_gene': 'NPDC1', 'score': 1.67}, {'connected_gene': 'LOC102724193', 'score': 0.77}]
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 GH09I137064 137064129 137064318 0.84 [{'connected_gene': 'ENSG00000231864', 'score': 550.77}, {'connected_gene': 'UAP1L1', 'score': 33.91}, {'connected_gene': 'NPDC1', 'score': 7.96}, {'connected_gene': 'SAPCD2', 'score': 0.44}]

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