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
ENST00000287652 [[10289706, 10290751], [10290878, 10291298], [10301820, 10302354], [10311814, 10312699], [10318044, 10318172], [10319962, 10320146], [10320568, 10320718], [10320904, 10322900]] [[10290884, 10291298], [10301820, 10302354], [10311814, 10312699], [10318044, 10318172], [10319962, 10320146], [10320568, 10320709]]
ENST00000448281 [[10290595, 10290751], [10290878, 10291298], [10301820, 10302354], [10311814, 10312699], [10318044, 10318172], [10319962, 10320146], [10320568, 10320747], [10320904, 10322902]] [[10290884, 10291298], [10301820, 10302354], [10311814, 10312699], [10318044, 10318172], [10319962, 10320146], [10320568, 10320709]]
ENST00000426850 [[10312603, 10312699], [10318044, 10318172], [10319962, 10320146], [10320568, 10320849]] [[10312603, 10312699], [10318044, 10318172], [10319962, 10320146], [10320568, 10320709]]
ENST00000496355 [[10318060, 10318172], [10319962, 10320146], [10320347, 10320444], [10320568, 10320718], [10320904, 10321817]] None
NM_014760 [[10290176, 10290751], [10290878, 10291298], [10301820, 10302354], [10311814, 10312699], [10318044, 10318172], [10319962, 10320146], [10320568, 10320747], [10320904, 10322906]] [[10290884, 10291298], [10301820, 10302354], [10311814, 10312699], [10318044, 10318172], [10319962, 10320146], [10320568, 10320709]]
Promoter
Chrom Start End Description
chr3 10290124 10290223 CAGE_peak_1_at_TATDN2_5end
chr3 10290228 10290249 CAGE_peak_2_at_TATDN2_5end
chr3 10290371 10290377 CAGE_peak_9_at_TATDN2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I010505 10505813 10508616 0.87 [{'connected_gene': 'TATDN2', 'score': 12.98}, {'connected_gene': 'EMC3-AS1', 'score': 12.79}, {'connected_gene': 'OGG1', 'score': 10.49}, {'connected_gene': 'GC03M010552', 'score': 0.25}, {'connected_gene': 'GC03P010586', 'score': 0.18}, {'connected_gene': 'ATP2B2', 'score': 0.08}]
chr3 GH03I010234 10234977 10235146 0.59 [{'connected_gene': 'TATDN2', 'score': 0.39}, {'connected_gene': 'GC03P010218', 'score': 0.37}, {'connected_gene': 'IRAK2', 'score': 0.19}]
chr3 GH03I010232 10232801 10233000 0.4 [{'connected_gene': 'TATDN2', 'score': 0.37}, {'connected_gene': 'GC03P010218', 'score': 0.37}, {'connected_gene': 'IRAK2', 'score': 0.2}]
chr3 GH03I010247 10247728 10250724 2.26 [{'connected_gene': 'TATDN2', 'score': 550.77}, {'connected_gene': 'PIR57492', 'score': 550.77}, {'connected_gene': 'PIR45247', 'score': 550.77}, {'connected_gene': 'PIR49172', 'score': 550.77}, {'connected_gene': 'PIR36484', 'score': 550.77}, {'connected_gene': 'ENSG00000272410', 'score': 550.77}, {'connected_gene': 'PIR32642', 'score': 550.77}, {'connected_gene': 'GHRLOS', 'score': 21.04}, {'connected_gene': 'GHRL', 'score': 11.88}, {'connected_gene': 'IRAK2', 'score': 11.83}, {'connected_gene': 'FANCD2OS', 'score': 11.58}, {'connected_gene': 'VHL', 'score': 11.5}, {'connected_gene': 'SEC13', 'score': 10.7}, {'connected_gene': 'IL17RE', 'score': 10.17}, {'connected_gene': 'JAGN1', 'score': 10.15}, {'connected_gene': 'TADA3', 'score': 9.97}, {'connected_gene': 'ARPC4', 'score': 9.97}, {'connected_gene': 'ARPC4-TTLL3', 'score': 9.97}, {'connected_gene': 'PRRT3', 'score': 9.84}, {'connected_gene': 'RPUSD3', 'score': 9.72}]
chr3 GH03I010183 10183550 10184826 0.38 [{'connected_gene': 'TATDN2', 'score': 11.6}, {'connected_gene': 'GHRLOS', 'score': 7.55}, {'connected_gene': 'CIDECP', 'score': 5.28}, {'connected_gene': 'IRAK2', 'score': 0.37}, {'connected_gene': 'GC03M010202', 'score': 0.34}]
chr3 GH03I009394 9394089 9403893 2.34 [{'connected_gene': 'SETD5', 'score': 635.98}, {'connected_gene': 'THUMPD3-AS1', 'score': 577.65}, {'connected_gene': 'GC03P009403', 'score': 550.77}, {'connected_gene': 'BRPF1', 'score': 126.97}, {'connected_gene': 'RAD18', 'score': 89.41}, {'connected_gene': 'GHRLOS', 'score': 40.99}, {'connected_gene': 'TTLL3', 'score': 40.01}, {'connected_gene': 'FANCD2', 'score': 39.59}, {'connected_gene': 'JAGN1', 'score': 31.13}, {'connected_gene': 'SEC13', 'score': 29.09}, {'connected_gene': 'SRGAP3', 'score': 21.03}, {'connected_gene': 'THUMPD3', 'score': 20.58}, {'connected_gene': 'LINC00852', 'score': 18.9}, {'connected_gene': 'TATDN2', 'score': 12.94}, {'connected_gene': 'EMC3-AS1', 'score': 12.79}, {'connected_gene': 'BRK1', 'score': 11.02}, {'connected_gene': 'ENSG00000269886', 'score': 10.92}, {'connected_gene': 'RPUSD3', 'score': 10.77}, {'connected_gene': 'OGG1', 'score': 10.51}]
chr3 GH03I010160 10160968 10161118 0.76 [{'connected_gene': 'IRAK2', 'score': 13.02}, {'connected_gene': 'VHL', 'score': 2.98}, {'connected_gene': 'TATDN2', 'score': 1.47}, {'connected_gene': 'GC03P010141', 'score': 0.37}, {'connected_gene': 'GC03P010143', 'score': 0.37}]
chr3 GH03I010228 10228002 10229399 1.41 [{'connected_gene': 'IRAK2', 'score': 9.34}, {'connected_gene': 'GHRL', 'score': 5.08}, {'connected_gene': 'TATDN2', 'score': 4.08}, {'connected_gene': 'VHL', 'score': 3.3}, {'connected_gene': 'BRPF1', 'score': 1.14}, {'connected_gene': 'GC03P010218', 'score': 0.39}]
chr3 GH03I010185 10185708 10188200 1.23 [{'connected_gene': 'IRAK2', 'score': 34.31}, {'connected_gene': 'GHRLOS', 'score': 27.41}, {'connected_gene': 'TATDN2', 'score': 14.15}, {'connected_gene': 'GHRL', 'score': 11.27}, {'connected_gene': 'FANCD2OS', 'score': 11.14}, {'connected_gene': 'LINC00852', 'score': 11.11}, {'connected_gene': 'VHL', 'score': 3.9}, {'connected_gene': 'GC03M010202', 'score': 0.37}]
chr3 GH03I010172 10172970 10175090 1.49 [{'connected_gene': 'IRAK2', 'score': 17.13}, {'connected_gene': 'GHRLOS', 'score': 6.92}, {'connected_gene': 'VHL', 'score': 3.95}, {'connected_gene': 'TATDN2', 'score': 2.24}, {'connected_gene': 'GC03M010202', 'score': 0.29}]
chr3 GH03I010188 10188774 10200915 1.86 [{'connected_gene': 'BRPF1', 'score': 82.83}, {'connected_gene': 'SETD5', 'score': 73.25}, {'connected_gene': 'IRAK2', 'score': 60.93}, {'connected_gene': 'GHRLOS', 'score': 48.14}, {'connected_gene': 'LINC00852', 'score': 30.38}, {'connected_gene': 'TATDN2', 'score': 26.94}, {'connected_gene': 'FANCD2', 'score': 22.57}, {'connected_gene': 'GHRL', 'score': 19.15}, {'connected_gene': 'TTLL3', 'score': 18.85}, {'connected_gene': 'SEC13', 'score': 18.54}, {'connected_gene': 'VHL', 'score': 18.5}, {'connected_gene': 'JAGN1', 'score': 13.72}, {'connected_gene': 'EMC3-AS1', 'score': 12.84}, {'connected_gene': 'CYCSP10', 'score': 12.78}, {'connected_gene': 'ENSG00000206567', 'score': 11.58}, {'connected_gene': 'THUMPD3', 'score': 11.34}, {'connected_gene': 'FANCD2OS', 'score': 11.3}, {'connected_gene': 'PRRT3', 'score': 11.19}, {'connected_gene': 'BRK1', 'score': 10.76}, {'connected_gene': 'ENSG00000269894', 'score': 10.57}, {'connected_gene': 'OGG1', 'score': 10.5}, {'connected_gene': 'RPUSD3', 'score': 10.16}, {'connected_gene': 'THUMPD3-AS1', 'score': 10.12}, {'connected_gene': 'CAMK1', 'score': 5.94}, {'connected_gene': 'ARPC4', 'score': 1.57}, {'connected_gene': 'GC03M010202', 'score': 0.39}]
chr3 GH03I010241 10241008 10243640 1.11 [{'connected_gene': 'GHRLOS', 'score': 16.47}, {'connected_gene': 'TATDN2', 'score': 0.44}, {'connected_gene': 'GC03P010218', 'score': 0.31}, {'connected_gene': 'IRAK2', 'score': 0.18}]
chr3 GH03I010243 10243685 10244699 0.43 [{'connected_gene': 'GHRLOS', 'score': 16.12}, {'connected_gene': 'TATDN2', 'score': 0.77}, {'connected_gene': 'GC03P010218', 'score': 0.31}, {'connected_gene': 'IRAK2', 'score': 0.18}]
chr3 GH03I010237 10237964 10239279 0.43 [{'connected_gene': 'GHRLOS', 'score': 15.81}, {'connected_gene': 'TATDN2', 'score': 0.44}, {'connected_gene': 'GC03P010218', 'score': 0.34}, {'connected_gene': 'IRAK2', 'score': 0.19}]
chr3 GH03I010337 10337384 10339605 0.63 [{'connected_gene': 'GHRLOS', 'score': 7.73}, {'connected_gene': 'TATDN2', 'score': 4.56}, {'connected_gene': 'MIR378B', 'score': 0.44}, {'connected_gene': 'GC03M010355', 'score': 0.25}, {'connected_gene': 'GC03P010614', 'score': 0.23}, {'connected_gene': 'ATP2B2', 'score': 0.05}]
chr3 GH03I010273 10273035 10273625 0.38 [{'connected_gene': 'GHRLOS', 'score': 29.67}, {'connected_gene': 'PIR49318', 'score': 0.77}, {'connected_gene': 'GC03P010610', 'score': 0.77}, {'connected_gene': 'PIR32377', 'score': 0.77}, {'connected_gene': 'ENSG00000272410', 'score': 0.34}, {'connected_gene': 'TATDN2', 'score': 0.31}]
chr3 GH03I010263 10263626 10264646 1.12 [{'connected_gene': 'GHRLOS', 'score': 20.9}, {'connected_gene': 'LINC00852', 'score': 12.17}, {'connected_gene': 'GHRL', 'score': 12.02}, {'connected_gene': 'IRAK2', 'score': 10.88}, {'connected_gene': 'IL17RE', 'score': 10.62}, {'connected_gene': 'IL17RC', 'score': 10.62}, {'connected_gene': 'RNU6-882P', 'score': 10.61}, {'connected_gene': 'PRRT3', 'score': 10.38}, {'connected_gene': 'PIR57384', 'score': 0.77}, {'connected_gene': 'PIR32054', 'score': 0.44}, {'connected_gene': 'ENSG00000272410', 'score': 0.39}, {'connected_gene': 'TATDN2', 'score': 0.37}]
chr3 GH03I010220 10220023 10221267 1.14 [{'connected_gene': 'GHRLOS', 'score': 12.2}, {'connected_gene': 'GHRL', 'score': 4.57}, {'connected_gene': 'GC03P010218', 'score': 0.77}, {'connected_gene': 'TATDN2', 'score': 0.31}, {'connected_gene': 'IRAK2', 'score': 0.22}]
chr3 GH03I010233 10232001 10232600 1.05 [{'connected_gene': 'GHRLOS', 'score': 16.18}, {'connected_gene': 'IRAK2', 'score': 12.26}, {'connected_gene': 'TATDN2', 'score': 4.57}, {'connected_gene': 'VHL', 'score': 4.53}, {'connected_gene': 'GC03P010218', 'score': 0.37}]
chr3 GH03I010221 10221509 10227097 1.7 [{'connected_gene': 'GHRLOS', 'score': 15.77}, {'connected_gene': 'CYCSP10', 'score': 10.92}, {'connected_gene': 'ENSG00000269886', 'score': 9.8}, {'connected_gene': 'IRAK2', 'score': 7.48}, {'connected_gene': 'GHRL', 'score': 5.19}, {'connected_gene': 'LINC00852', 'score': 4.85}, {'connected_gene': 'TATDN2', 'score': 4.52}, {'connected_gene': 'VHL', 'score': 3.25}, {'connected_gene': 'BRPF1', 'score': 1.45}, {'connected_gene': 'GC03P010218', 'score': 0.44}]
chr3 GH03I010436 10436510 10439332 1.5 [{'connected_gene': 'MIR885', 'score': 11.49}, {'connected_gene': 'SEC13', 'score': 10.52}, {'connected_gene': 'TATDN2', 'score': 2.2}, {'connected_gene': 'GC03P010586', 'score': 0.44}, {'connected_gene': 'GC03M010552', 'score': 0.13}, {'connected_gene': 'ATP2B2', 'score': 0.06}]
chr3 GH03I010251 10251057 10251206 0.66 [{'connected_gene': 'PIR57492', 'score': 550.77}, {'connected_gene': 'PIR45247', 'score': 550.77}, {'connected_gene': 'PIR49172', 'score': 550.77}, {'connected_gene': 'PIR36484', 'score': 550.77}, {'connected_gene': 'ENSG00000272410', 'score': 550.77}, {'connected_gene': 'GHRL', 'score': 11.73}, {'connected_gene': 'VHL', 'score': 11.5}, {'connected_gene': 'IRAK2', 'score': 11.02}, {'connected_gene': 'SEC13', 'score': 10.7}, {'connected_gene': 'FANCD2OS', 'score': 10.49}, {'connected_gene': 'IL17RE', 'score': 10.17}, {'connected_gene': 'PRRT3', 'score': 9.84}, {'connected_gene': 'TADA3', 'score': 9.56}, {'connected_gene': 'ARPC4', 'score': 9.56}, {'connected_gene': 'ARPC4-TTLL3', 'score': 9.56}, {'connected_gene': 'RPUSD3', 'score': 9.5}, {'connected_gene': 'TATDN2', 'score': 0.77}, {'connected_gene': 'PIR34834', 'score': 0.44}, {'connected_gene': 'GC03P010609', 'score': 0.44}]
chr3 GH03I010201 10201193 10207849 1.63 [{'connected_gene': 'GC03M010202', 'score': 550.77}, {'connected_gene': 'IRAK2', 'score': 24.19}, {'connected_gene': 'TATDN2', 'score': 15.85}, {'connected_gene': 'VHL', 'score': 15.48}, {'connected_gene': 'GHRLOS', 'score': 15.31}, {'connected_gene': 'ARPC4', 'score': 14.0}, {'connected_gene': 'FANCD2OS', 'score': 11.28}, {'connected_gene': 'GHRL', 'score': 10.65}, {'connected_gene': 'SEC13', 'score': 9.83}, {'connected_gene': 'CAMK1', 'score': 9.61}, {'connected_gene': 'TADA3', 'score': 9.28}, {'connected_gene': 'ARPC4-TTLL3', 'score': 9.28}, {'connected_gene': 'LINC00852', 'score': 4.91}]

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