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
ENST00000333046 [[140086068, 140086817], [140086902, 140087143], [140093438, 140094557]] [[140086563, 140086817], [140086902, 140087143], [140093438, 140094557]]
ENST00000321773 [[140086068, 140086817], [140086902, 140087143], [140093438, 140094980]] [[140086563, 140086817], [140086902, 140087143], [140093438, 140094980]]
ENST00000409012 [[140086068, 140086626], [140086710, 140086817], [140086902, 140087143], [140093438, 140095250]] [[140086563, 140086626], [140086710, 140086817], [140086902, 140087143], [140093438, 140095163]]
ENST00000477345 [[140086070, 140086626], [140086710, 140086817], [140086902, 140089589]] None
ENST00000541945 [[140087103, 140087143], [140098555, 140098645]] None
NM_001128228 [[140086068, 140086626], [140086710, 140086817], [140086902, 140087143], [140093438, 140095163]] [[140086563, 140086626], [140086710, 140086817], [140086902, 140087143], [140093438, 140095163]]
Promoter
Chrom Start End Description
chr9 140095186 140095208 CAGE_peak_1_at_TPRN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I137592 137592300 137594296 1.24 [{'connected_gene': 'EHMT1', 'score': 18.6}, {'connected_gene': 'PNPLA7', 'score': 16.31}, {'connected_gene': 'GRIN1', 'score': 2.72}, {'connected_gene': 'RNF208', 'score': 1.81}, {'connected_gene': 'CACNA1B', 'score': 1.72}, {'connected_gene': 'TPRN', 'score': 1.33}, {'connected_gene': 'ZMYND19', 'score': 0.77}, {'connected_gene': 'ARRDC1', 'score': 0.39}, {'connected_gene': 'GC09M137538', 'score': 0.07}]
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 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 GH09I137187 137187467 137191794 2.3 [{'connected_gene': 'ANAPC2', 'score': 561.32}, {'connected_gene': 'SSNA1', 'score': 558.35}, {'connected_gene': 'PIR44674', 'score': 550.77}, {'connected_gene': 'LOC651337', 'score': 10.79}, {'connected_gene': 'DPH7', 'score': 10.65}, {'connected_gene': 'EHMT1', 'score': 10.16}, {'connected_gene': 'TPRN', 'score': 7.72}, {'connected_gene': 'PIR49240', 'score': 0.39}]
chr9 GH09I137193 137193566 137203331 2.73 [{'connected_gene': 'TPRN', 'score': 551.64}, {'connected_gene': 'EHMT1', 'score': 41.27}, {'connected_gene': 'SDCCAG3', 'score': 24.16}, {'connected_gene': 'LOC651337', 'score': 23.64}, {'connected_gene': 'ANAPC2', 'score': 21.66}, {'connected_gene': 'SNAPC4', 'score': 14.7}, {'connected_gene': 'FAM166A', 'score': 11.83}, {'connected_gene': 'NDOR1', 'score': 11.08}, {'connected_gene': 'INPP5E', 'score': 10.89}, {'connected_gene': 'ZMYND19', 'score': 10.71}, {'connected_gene': 'ARRDC1-AS1', 'score': 9.89}, {'connected_gene': 'SSNA1', 'score': 5.43}, {'connected_gene': 'LCNL1', 'score': 2.06}, {'connected_gene': 'ABCA2', 'score': 1.93}, {'connected_gene': 'PNPLA7', 'score': 1.45}, {'connected_gene': 'C8G', 'score': 1.33}, {'connected_gene': 'PIR49240', 'score': 0.77}, {'connected_gene': 'PIR44674', '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 GH09I137204 137204085 137207339 2.03 [{'connected_gene': 'NDOR1', 'score': 555.39}, {'connected_gene': 'PIR53478', 'score': 550.77}, {'connected_gene': 'TPRN', 'score': 550.77}, {'connected_gene': 'TMEM203', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 14.44}, {'connected_gene': 'SDCCAG3', 'score': 10.87}, {'connected_gene': 'CYSRT1', 'score': 5.97}, {'connected_gene': 'SLC34A3', 'score': 5.8}, {'connected_gene': 'RNF208', 'score': 4.76}]
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 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 GH09I136884 136884710 136887839 2.23 [{'connected_gene': 'MIR4479', 'score': 550.77}, {'connected_gene': 'TRAF2', 'score': 550.77}, {'connected_gene': 'LOC105376326', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 38.48}, {'connected_gene': 'SDCCAG3', 'score': 24.18}, {'connected_gene': 'ANAPC2', 'score': 22.04}, {'connected_gene': 'PHPT1', 'score': 21.75}, {'connected_gene': 'SNHG7', 'score': 16.35}, {'connected_gene': 'LOC651337', 'score': 15.58}, {'connected_gene': 'MAMDC4', 'score': 12.44}, {'connected_gene': 'AJM1', 'score': 12.42}, {'connected_gene': 'FBXW5', 'score': 11.85}, {'connected_gene': 'C8G', 'score': 11.85}, {'connected_gene': 'LCN12', 'score': 11.84}, {'connected_gene': 'TMEM141', 'score': 11.81}, {'connected_gene': 'PRR31', 'score': 11.74}, {'connected_gene': 'CCDC183-AS1', 'score': 11.55}, {'connected_gene': 'RABL6', 'score': 11.55}, {'connected_gene': 'CCDC183', 'score': 11.54}, {'connected_gene': 'ABCA2', 'score': 11.36}, {'connected_gene': 'C9orf139', 'score': 11.36}, {'connected_gene': 'EXD3', 'score': 10.7}, {'connected_gene': 'MAN1B1', 'score': 10.32}, {'connected_gene': 'DPP7', 'score': 10.31}, {'connected_gene': 'GRIN1', 'score': 10.31}, {'connected_gene': 'SSNA1', 'score': 10.29}, {'connected_gene': 'TPRN', 'score': 10.29}, {'connected_gene': 'DPH7', 'score': 9.84}, {'connected_gene': 'LCNL1', 'score': 5.9}]
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 GH09I136881 136881316 136884008 1.4 [{'connected_gene': 'TRAF2', 'score': 550.77}, {'connected_gene': 'PHPT1', 'score': 23.32}, {'connected_gene': 'MAMDC4', 'score': 12.46}, {'connected_gene': 'AJM1', 'score': 12.44}, {'connected_gene': 'TMEM141', 'score': 11.81}, {'connected_gene': 'LCN12', 'score': 11.77}, {'connected_gene': 'PRR31', 'score': 11.73}, {'connected_gene': 'FBXW5', 'score': 11.6}, {'connected_gene': 'C8G', 'score': 11.6}, {'connected_gene': 'RABL6', 'score': 11.39}, {'connected_gene': 'ABCA2', 'score': 11.36}, {'connected_gene': 'C9orf139', 'score': 11.36}, {'connected_gene': 'CCDC183', 'score': 11.36}, {'connected_gene': 'CCDC183-AS1', 'score': 10.91}, {'connected_gene': 'SSNA1', 'score': 10.29}, {'connected_gene': 'ANAPC2', 'score': 10.29}, {'connected_gene': 'TPRN', 'score': 10.29}, {'connected_gene': 'LOC105376326', 'score': 0.77}]

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