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
ENST00000409858 [[139971952, 139972273], [139972501, 139972706], [139972953, 139973129], [139973427, 139973600], [139973707, 139973901], [139974453, 139974594], [139975140, 139975326], [139976449, 139976516], [139977088, 139978990]] [[139971984, 139972273], [139972501, 139972706], [139972953, 139973129], [139973427, 139973600], [139973707, 139973901], [139974453, 139974594], [139975140, 139975326], [139976449, 139976516], [139977088, 139977181]]
ENST00000476184 [[139971977, 139972273], [139972953, 139973129], [139973427, 139973600]] None
ENST00000360271 [[139972592, 139973129], [139973427, 139973600], [139973707, 139973901], [139974453, 139974594], [139975140, 139975326], [139976449, 139976516], [139977088, 139978991]] [[139972828, 139973129], [139973427, 139973600], [139973707, 139973901], [139974453, 139974594], [139975140, 139975326], [139976449, 139976516], [139977088, 139977181]]
ENST00000474787 [[139973050, 139973129], [139973427, 139973600], [139973707, 139975326], [139976449, 139978990]] None
NM_207309 [[139971952, 139972273], [139972501, 139972706], [139972953, 139973129], [139973427, 139973600], [139973707, 139973901], [139974453, 139974594], [139975140, 139975326], [139976449, 139976516], [139977088, 139978990]] [[139971984, 139972273], [139972501, 139972706], [139972953, 139973129], [139973427, 139973600], [139973707, 139973901], [139974453, 139974594], [139975140, 139975326], [139976449, 139976516], [139977088, 139977181]]
Promoter
Chrom Start End Description
chr9 139971921 139971981 CAGE_peak_1_at_UAP1L1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I137399 137399183 137401133 1.14 [{'connected_gene': 'SEC16A', 'score': 5.4}, {'connected_gene': 'NRARP', 'score': 2.88}, {'connected_gene': 'UAP1L1', 'score': 2.74}, {'connected_gene': 'TOR4A', 'score': 2.4}, {'connected_gene': 'EXD3', 'score': 0.34}, {'connected_gene': 'GC09M137332', 'score': 0.22}]
chr9 GH09I136613 136613634 136628089 1.75 [{'connected_gene': 'DPH7', 'score': 16.97}, {'connected_gene': 'INPP5E', 'score': 16.43}, {'connected_gene': 'ARRDC1-AS1', 'score': 13.8}, {'connected_gene': 'EXD3', 'score': 13.2}, {'connected_gene': 'SNAPC4', 'score': 11.91}, {'connected_gene': 'ANAPC2', 'score': 11.3}, {'connected_gene': 'QSOX2', 'score': 11.01}, {'connected_gene': 'NOTCH1', 'score': 10.56}, {'connected_gene': 'MAN1B1', 'score': 9.91}, {'connected_gene': 'CCDC183-AS1', 'score': 9.85}, {'connected_gene': 'FUT7', 'score': 7.37}, {'connected_gene': 'EGFL7', 'score': 4.99}, {'connected_gene': 'SEC16A', 'score': 4.65}, {'connected_gene': 'ABCA2', 'score': 2.71}, {'connected_gene': 'CARD9', 'score': 1.98}, {'connected_gene': 'UAP1L1', 'score': 1.34}, {'connected_gene': 'LINC01451', 'score': 0.77}, {'connected_gene': 'LOC105376325', 'score': 0.34}]
chr9 GH09I137076 137076797 137078549 1.82 [{'connected_gene': 'UAP1L1', 'score': 601.62}, {'connected_gene': 'DPH7', 'score': 16.98}, {'connected_gene': 'INPP5E', 'score': 16.37}, {'connected_gene': 'ARRDC1-AS1', 'score': 13.81}, {'connected_gene': 'EXD3', 'score': 13.22}, {'connected_gene': 'SNAPC4', 'score': 11.86}, {'connected_gene': 'ANAPC2', 'score': 11.41}, {'connected_gene': 'QSOX2', 'score': 10.99}, {'connected_gene': 'MAN1B1', 'score': 10.3}, {'connected_gene': 'CCDC183-AS1', 'score': 9.83}, {'connected_gene': 'PIR60888', 'score': 0.44}]
chr9 GH09I137079 137079109 137079158 0.46 [{'connected_gene': 'UAP1L1', 'score': 550.77}, {'connected_gene': 'SAPCD2', 'score': 6.62}, {'connected_gene': 'PIR60888', 'score': 0.44}]
chr9 GH09I137073 137073391 137075785 0.91 [{'connected_gene': 'UAP1L1', 'score': 51.77}, {'connected_gene': 'SNHG7', 'score': 17.15}, {'connected_gene': 'DPH7', 'score': 16.77}, {'connected_gene': 'DPP7', 'score': 15.08}, {'connected_gene': 'EXD3', 'score': 14.87}, {'connected_gene': 'SDCCAG3', 'score': 13.45}, {'connected_gene': 'EHMT1', 'score': 12.77}, {'connected_gene': 'ABCA2', 'score': 12.34}, {'connected_gene': 'ANAPC2', 'score': 11.78}, {'connected_gene': 'INPP5E', 'score': 10.89}, {'connected_gene': 'SEC16A', 'score': 10.35}, {'connected_gene': 'MAN1B1', 'score': 8.13}, {'connected_gene': 'SAPCD2', 'score': 0.77}]
chr9 GH09I137121 137121402 137123768 1.04 [{'connected_gene': 'UAP1L1', 'score': 23.49}, {'connected_gene': 'MAN1B1', 'score': 18.36}, {'connected_gene': 'INPP5E', 'score': 15.66}, {'connected_gene': 'EXD3', 'score': 14.52}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.77}, {'connected_gene': 'DPH7', 'score': 11.7}, {'connected_gene': 'DPP7', 'score': 0.77}, {'connected_gene': 'GC09M137131', 'score': 0.44}]
chr9 GH09I137095 137095178 137097556 0.98 [{'connected_gene': 'UAP1L1', 'score': 35.75}, {'connected_gene': 'MAN1B1', 'score': 24.12}, {'connected_gene': 'DPP7', 'score': 8.14}, {'connected_gene': 'ENSG00000199411', 'score': 0.77}, {'connected_gene': 'LOC101930307', 'score': 0.44}]
chr9 GH09I137078 137078809 137078958 0.46 [{'connected_gene': 'UAP1L1', 'score': 550.77}, {'connected_gene': 'PIR60888', 'score': 0.44}]
chr9 GH09I137080 137079009 137079104 0.46 [{'connected_gene': 'UAP1L1', 'score': 550.77}, {'connected_gene': 'PIR60888', 'score': 0.44}]
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 GH09I137126 137126601 137131000 1.54 [{'connected_gene': 'EHMT1', 'score': 39.88}, {'connected_gene': 'DPH7', 'score': 32.52}, {'connected_gene': 'SDCCAG3', 'score': 29.61}, {'connected_gene': 'ANAPC2', 'score': 27.95}, {'connected_gene': 'SNHG7', 'score': 26.03}, {'connected_gene': 'SEC16A', 'score': 26.0}, {'connected_gene': 'NDOR1', 'score': 21.0}, {'connected_gene': 'UAP1L1', 'score': 20.8}, {'connected_gene': 'INPP5E', 'score': 15.66}, {'connected_gene': 'EXD3', 'score': 14.53}, {'connected_gene': 'LOC651337', 'score': 13.62}, {'connected_gene': 'MAN1B1', 'score': 12.73}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.77}, {'connected_gene': 'DPP7', 'score': 11.67}, {'connected_gene': 'PNPLA7', 'score': 2.52}, {'connected_gene': 'NRARP', 'score': 2.19}, {'connected_gene': 'ABCA2', 'score': 1.74}, {'connected_gene': 'GC09M137131', 'score': 0.77}]
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 GH09I137243 137243489 137245047 1.02 [{'connected_gene': 'INPP5E', 'score': 20.81}, {'connected_gene': 'ANAPC2', 'score': 20.65}, {'connected_gene': 'DPH7', 'score': 17.08}, {'connected_gene': 'SNAPC4', 'score': 14.7}, {'connected_gene': 'SNHG7', 'score': 13.94}, {'connected_gene': 'FAM166A', 'score': 12.03}, {'connected_gene': 'EXD3', 'score': 12.0}, {'connected_gene': 'ZMYND19', 'score': 10.71}, {'connected_gene': 'SDCCAG3', 'score': 10.26}, {'connected_gene': 'ARRDC1-AS1', 'score': 9.89}, {'connected_gene': 'LOC651337', 'score': 9.86}, {'connected_gene': 'UAP1L1', 'score': 4.69}, {'connected_gene': 'TUBB4B', 'score': 0.77}, {'connected_gene': 'STPG3', 'score': 0.44}]
chr9 GH09I137326 137326101 137327340 0.66 [{'connected_gene': 'NRARP', 'score': 2.43}, {'connected_gene': 'UAP1L1', 'score': 1.44}, {'connected_gene': 'GC09M137332', 'score': 0.37}, {'connected_gene': 'EXD3', 'score': 0.15}]
chr9 GH09I137113 137113800 137115576 1.88 [{'connected_gene': 'DPP7', 'score': 564.33}, {'connected_gene': 'UAP1L1', 'score': 33.6}, {'connected_gene': 'MAN1B1', 'score': 23.03}, {'connected_gene': 'SNHG7', 'score': 17.15}, {'connected_gene': 'DPH7', 'score': 16.78}, {'connected_gene': 'EXD3', 'score': 14.88}, {'connected_gene': 'SDCCAG3', 'score': 13.45}, {'connected_gene': 'EHMT1', 'score': 12.77}, {'connected_gene': 'ANAPC2', 'score': 11.84}, {'connected_gene': 'INPP5E', 'score': 10.89}, {'connected_gene': 'SEC16A', 'score': 10.35}, {'connected_gene': 'LOC101930307', 'score': 0.39}]
chr9 GH09I137118 137118601 137119200 1.03 [{'connected_gene': 'DPP7', 'score': 555.53}, {'connected_gene': 'UAP1L1', 'score': 24.47}, {'connected_gene': 'GC09M137131', 'score': 0.39}]
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 GH09I137149 137149902 137151845 1.04 [{'connected_gene': 'NDOR1', 'score': 23.43}, {'connected_gene': 'ANAPC2', 'score': 23.41}, {'connected_gene': 'EHMT1', 'score': 18.45}, {'connected_gene': 'SEC16A', 'score': 14.69}, {'connected_gene': 'TMEM210', 'score': 13.01}, {'connected_gene': 'SDCCAG3', 'score': 12.46}, {'connected_gene': 'TPRN', 'score': 12.37}, {'connected_gene': 'DPP7', 'score': 12.12}, {'connected_gene': 'MAN1B1', 'score': 12.03}, {'connected_gene': 'TMEM203', 'score': 11.4}, {'connected_gene': 'SNHG7', 'score': 9.67}, {'connected_gene': 'UAP1L1', 'score': 6.93}, {'connected_gene': 'LOC105376328', 'score': 0.44}, {'connected_gene': 'GRIN1', 'score': 0.39}]
chr9 GH09I137156 137156397 137157598 0.75 [{'connected_gene': 'LOC105376328', 'score': 550.77}, {'connected_gene': 'MAN1B1', 'score': 17.59}, {'connected_gene': 'ANAPC2', 'score': 12.96}, {'connected_gene': 'SSNA1', 'score': 12.44}, {'connected_gene': 'TPRN', 'score': 12.39}, {'connected_gene': 'DPP7', 'score': 12.1}, {'connected_gene': 'NDOR1', 'score': 11.42}, {'connected_gene': 'TMEM203', 'score': 11.42}, {'connected_gene': 'C9orf139', 'score': 11.0}, {'connected_gene': 'ABCA2', 'score': 11.0}, {'connected_gene': 'UAP1L1', 'score': 6.24}, {'connected_gene': 'MIR3621', 'score': 0.39}, {'connected_gene': 'GRIN1', '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 GH09I137166 137166082 137176207 2.11 [{'connected_gene': 'TMEM210', 'score': 550.77}, {'connected_gene': 'LRRC26', 'score': 550.77}, {'connected_gene': 'ENSG00000261793', 'score': 550.77}, {'connected_gene': 'MIR3621', 'score': 550.77}, {'connected_gene': 'MAN1B1', 'score': 22.07}, {'connected_gene': 'TPRN', 'score': 19.45}, {'connected_gene': 'DPH7', 'score': 17.0}, {'connected_gene': 'INPP5E', 'score': 16.36}, {'connected_gene': 'ARRDC1-AS1', 'score': 13.82}, {'connected_gene': 'EXD3', 'score': 13.24}, {'connected_gene': 'NDOR1', 'score': 12.45}, {'connected_gene': 'TMEM203', 'score': 12.45}, {'connected_gene': 'GRIN1', 'score': 12.32}, {'connected_gene': 'DPP7', 'score': 12.25}, {'connected_gene': 'SNAPC4', 'score': 11.86}, {'connected_gene': 'ANAPC2', 'score': 11.64}, {'connected_gene': 'ENSG00000199411', 'score': 11.61}, {'connected_gene': 'QSOX2', 'score': 10.99}, {'connected_gene': 'CCDC183-AS1', 'score': 9.82}, {'connected_gene': 'SSNA1', 'score': 5.49}, {'connected_gene': 'UAP1L1', 'score': 4.84}, {'connected_gene': 'LCNL1', 'score': 2.23}, {'connected_gene': 'ABCA2', 'score': 2.03}, {'connected_gene': 'PAXX', 'score': 1.93}, {'connected_gene': 'CLIC3', 'score': 1.86}, {'connected_gene': 'FUT7', 'score': 1.55}]
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}]
chr9 GH09I137082 137082092 137084938 1.11 [{'connected_gene': 'PIR60888', 'score': 550.77}, {'connected_gene': 'GC09M137085', 'score': 0.77}, {'connected_gene': 'UAP1L1', 'score': 0.44}]

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