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
ENST00000493917 [[33247817, 33248164], [33248309, 33248419], [33255862, 33255925], [33256798, 33256804]] None
ENST00000472232 [[33252476, 33255306], [33255862, 33255925], [33256798, 33256906], [33258917, 33259031], [33261084, 33261167], [33262699, 33262828], [33264221, 33264759]] [[33255216, 33255306], [33255862, 33255925], [33256798, 33256906], [33258917, 33259031], [33261084, 33261167], [33262699, 33262828], [33264221, 33264672]]
ENST00000379701 [[33255022, 33255306], [33255862, 33255925], [33256798, 33256906], [33258917, 33260439]] None
ENST00000467389 [[33255022, 33255306], [33255862, 33255925], [33256798, 33256906], [33258917, 33259031], [33259882, 33260486]] None
ENST00000379707 [[33255046, 33255306], [33255862, 33255925], [33256798, 33256906], [33258917, 33259031], [33261084, 33261167], [33262102, 33262244], [33262699, 33262828], [33264221, 33264675]] [[33259008, 33259031], [33261084, 33261167], [33262102, 33262244], [33262699, 33262828], [33264221, 33264327]]
ENST00000379704 [[33255075, 33255306], [33255862, 33255925], [33256798, 33256906], [33258917, 33259031], [33261084, 33261167], [33262699, 33262828], [33264221, 33264761]] [[33255216, 33255306], [33255862, 33255925], [33256798, 33256906], [33258917, 33259031], [33261084, 33261167], [33262699, 33262828], [33264221, 33264327]]
ENST00000468274 [[33255861, 33255925], [33256798, 33257669]] None
ENST00000473464 [[33257717, 33258121], [33258917, 33259030]] None
ENST00000473781 [[33258916, 33259031], [33261084, 33261167], [33262699, 33262828], [33264203, 33264557]] [[33258916, 33259031], [33261084, 33261167], [33262699, 33262828], [33264203, 33264327]]
ENST00000488499 [[33262738, 33262828], [33264273, 33264668]] [[33262738, 33262828], [33264273, 33264327]]
NM_001172415 [[33252468, 33255306], [33255862, 33255925], [33256798, 33256906], [33258917, 33259031], [33261084, 33261167], [33262699, 33262828], [33264221, 33264759]] [[33255216, 33255306], [33255862, 33255925], [33256798, 33256906], [33258917, 33259031], [33261084, 33261167], [33262699, 33262828], [33264221, 33264327]]
NM_004323 [[33252468, 33255306], [33255862, 33255925], [33256798, 33256906], [33258917, 33259031], [33261084, 33261167], [33262699, 33262828], [33264221, 33264759]] [[33255216, 33255306], [33255862, 33255925], [33256798, 33256906], [33258917, 33259031], [33261084, 33261167], [33262699, 33262828], [33264221, 33264672]]
Promoter
Chrom Start End Description
chr9 33264649 33264662 CAGE_peak_2_at_BAG1_5end
chr9 33264676 33264741 CAGE_peak_1_at_BAG1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I033262 33262687 33266282 2 [{'connected_gene': 'BAG1', 'score': 557.04}, {'connected_gene': 'GC09M033264', 'score': 550.77}, {'connected_gene': 'CHMP5', 'score': 550.77}, {'connected_gene': 'NFX1', 'score': 24.15}, {'connected_gene': 'GC09M033252', 'score': 0.39}, {'connected_gene': 'GC09M033166', 'score': 0.29}, {'connected_gene': 'GC09M033168', 'score': 0.29}, {'connected_gene': 'GC09M033167', 'score': 0.29}]
chr9 GH09I033305 33305278 33307025 0.43 [{'connected_gene': 'BAG1', 'score': 11.6}, {'connected_gene': 'CHMP5', 'score': 11.6}, {'connected_gene': 'RNU4ATAC15P', 'score': 9.33}, {'connected_gene': 'GC09M033166', 'score': 0.44}, {'connected_gene': 'NFX1', 'score': 0.37}, {'connected_gene': 'PIR45697', 'score': 0.28}, {'connected_gene': 'GC09P033345', 'score': 0.28}]
chr9 GH09I033300 33300352 33301506 0.43 [{'connected_gene': 'BAG1', 'score': 5.72}, {'connected_gene': 'GC09M033166', 'score': 0.77}, {'connected_gene': 'NFX1', 'score': 0.39}, {'connected_gene': 'PIR45697', 'score': 0.26}, {'connected_gene': 'GC09P033345', 'score': 0.26}]
chr9 GH09I033353 33353994 33355966 0.92 [{'connected_gene': 'BAG1', 'score': 15.8}, {'connected_gene': 'LOC105376020', 'score': 11.17}, {'connected_gene': 'AQP7', 'score': 11.17}, {'connected_gene': 'NFX1', 'score': 11.05}, {'connected_gene': 'CHMP5', 'score': 10.36}, {'connected_gene': 'SPINK4', 'score': 7.27}, {'connected_gene': 'ENSG00000200544', 'score': 0.77}, {'connected_gene': 'PIR41360', 'score': 0.26}]
chr9 GH09I033075 33075396 33077550 2.04 [{'connected_gene': 'SMU1', 'score': 563.0}, {'connected_gene': 'B4GALT1', 'score': 21.24}, {'connected_gene': 'NOL6', 'score': 19.08}, {'connected_gene': 'NFX1', 'score': 14.52}, {'connected_gene': 'ANXA2P2', 'score': 14.25}, {'connected_gene': 'BAG1', 'score': 11.14}, {'connected_gene': 'CHMP5', 'score': 11.14}, {'connected_gene': 'TOPORS', 'score': 11.09}, {'connected_gene': 'B4GALT1-AS1', 'score': 11.08}, {'connected_gene': 'RNU4ATAC15P', 'score': 10.15}, {'connected_gene': 'ASS1P12', 'score': 10.0}, {'connected_gene': 'APTX', 'score': 8.84}, {'connected_gene': 'PIR52670', 'score': 0.29}]
chr9 GH09I033327 33327651 33331011 1.25 [{'connected_gene': 'NFX1', 'score': 20.28}, {'connected_gene': 'BAG1', 'score': 11.32}, {'connected_gene': 'CHMP5', 'score': 11.32}, {'connected_gene': 'LOC105376020', 'score': 11.17}, {'connected_gene': 'AQP7', 'score': 11.17}, {'connected_gene': 'NOL6', 'score': 10.31}, {'connected_gene': 'PIR45697', 'score': 0.39}, {'connected_gene': 'GC09P033345', 'score': 0.39}, {'connected_gene': 'GC09M033166', 'score': 0.29}]
chr9 GH09I033318 33318409 33323235 1.08 [{'connected_gene': 'NFX1', 'score': 22.53}, {'connected_gene': 'BAG1', 'score': 17.63}, {'connected_gene': 'CHMP5', 'score': 11.69}, {'connected_gene': 'LOC105376020', 'score': 11.07}, {'connected_gene': 'AQP7', 'score': 11.07}, {'connected_gene': 'AQP3', 'score': 10.96}, {'connected_gene': 'B4GALT1-AS1', 'score': 9.56}, {'connected_gene': 'B4GALT1', 'score': 9.56}, {'connected_gene': 'PIR45697', 'score': 0.34}, {'connected_gene': 'GC09M033166', 'score': 0.34}, {'connected_gene': 'GC09P033345', 'score': 0.34}]
chr9 GH09I033331 33331223 33331996 0.94 [{'connected_gene': 'NFX1', 'score': 11.39}, {'connected_gene': 'BAG1', 'score': 11.31}, {'connected_gene': 'CHMP5', 'score': 11.31}, {'connected_gene': 'LOC105376020', 'score': 11.17}, {'connected_gene': 'AQP7', 'score': 11.17}, {'connected_gene': 'PIR45697', 'score': 0.39}, {'connected_gene': 'GC09P033345', 'score': 0.39}, {'connected_gene': 'GC09M033166', 'score': 0.29}]
chr9 GH09I033332 33332831 33333915 0.2 [{'connected_gene': 'NFX1', 'score': 11.39}, {'connected_gene': 'BAG1', 'score': 11.31}, {'connected_gene': 'CHMP5', 'score': 11.31}, {'connected_gene': 'LOC105376020', 'score': 11.19}, {'connected_gene': 'AQP7', 'score': 11.19}, {'connected_gene': 'PIR45697', 'score': 0.39}, {'connected_gene': 'GC09P033345', 'score': 0.39}, {'connected_gene': 'GC09M033166', 'score': 0.28}]
chr9 GH09I033271 33271840 33272901 0.49 [{'connected_gene': 'NFX1', 'score': 30.23}, {'connected_gene': 'BAG1', 'score': 4.63}, {'connected_gene': 'CHMP5', 'score': 0.44}, {'connected_gene': 'LOC100862682', 'score': 0.37}, {'connected_gene': 'GC09M033166', 'score': 0.31}, {'connected_gene': 'GC09M033168', 'score': 0.31}, {'connected_gene': 'GC09M033167', 'score': 0.31}]
chr9 GH09I033226 33226508 33237474 1.35 [{'connected_gene': 'NFX1', 'score': 35.1}, {'connected_gene': 'SMU1', 'score': 23.9}, {'connected_gene': 'BAG1', 'score': 17.39}, {'connected_gene': 'ASS1P12', 'score': 15.67}, {'connected_gene': 'DFFBP1', 'score': 15.17}, {'connected_gene': 'TCEA1P4', 'score': 14.26}, {'connected_gene': 'TOPORS', 'score': 14.15}, {'connected_gene': 'ENSG00000228352', 'score': 13.06}, {'connected_gene': 'CHMP5', 'score': 12.54}, {'connected_gene': 'NOL6', 'score': 12.25}, {'connected_gene': 'B4GALT1', 'score': 12.03}, {'connected_gene': 'B4GALT1-AS1', 'score': 12.03}, {'connected_gene': 'RNU4ATAC15P', 'score': 11.84}, {'connected_gene': 'SPINK4', 'score': 0.39}, {'connected_gene': 'GC09P033251', 'score': 0.37}, {'connected_gene': 'GC09M033166', 'score': 0.2}, {'connected_gene': 'GC09M033168', 'score': 0.2}, {'connected_gene': 'GC09M033167', 'score': 0.2}]
chr9 GH09I033286 33286628 33299625 2.53 [{'connected_gene': 'NFX1', 'score': 583.83}, {'connected_gene': 'PIR32325', 'score': 550.77}, {'connected_gene': 'B4GALT1', 'score': 19.34}, {'connected_gene': 'BAG1', 'score': 17.47}, {'connected_gene': 'ENSG00000228352', 'score': 16.36}, {'connected_gene': 'DFFBP1', 'score': 14.98}, {'connected_gene': 'ANXA2P2', 'score': 14.27}, {'connected_gene': 'SMU1', 'score': 13.53}, {'connected_gene': 'CHMP5', 'score': 12.03}, {'connected_gene': 'DDX58', 'score': 11.88}, {'connected_gene': 'AQP3', 'score': 11.17}, {'connected_gene': 'TOPORS', 'score': 10.76}, {'connected_gene': 'SPINK4', 'score': 9.93}, {'connected_gene': 'GC09M033166', 'score': 0.77}, {'connected_gene': 'GC09M033168', 'score': 0.77}, {'connected_gene': 'GC09M033167', 'score': 0.77}, {'connected_gene': 'LOC100862682', 'score': 0.77}]
chr9 GH09I033281 33281329 33285178 0.2 [{'connected_gene': 'NFX1', 'score': 29.51}, {'connected_gene': 'B4GALT1-AS1', 'score': 9.97}, {'connected_gene': 'B4GALT1', 'score': 9.97}, {'connected_gene': 'BAG1', 'score': 4.56}, {'connected_gene': 'LOC100862682', 'score': 0.77}, {'connected_gene': 'GC09M033166', 'score': 0.39}, {'connected_gene': 'GC09M033168', 'score': 0.39}, {'connected_gene': 'GC09M033167', 'score': 0.39}, {'connected_gene': 'CHMP5', 'score': 0.37}]
chr9 GH09I033455 33455876 33459942 1.17 [{'connected_gene': 'AQP7', 'score': 18.46}, {'connected_gene': 'NOL6', 'score': 12.93}, {'connected_gene': 'AQP3', 'score': 12.53}, {'connected_gene': 'LOC105376020', 'score': 12.05}, {'connected_gene': 'BAG1', 'score': 9.69}, {'connected_gene': 'CHMP5', 'score': 9.69}, {'connected_gene': 'SUGT1P1', 'score': 5.41}, {'connected_gene': 'PTENP1', 'score': 5.26}, {'connected_gene': 'GC09P033453', 'score': 0.77}, {'connected_gene': 'MIR6851', 'score': 0.39}]
chr9 GH09I033442 33442303 33448480 2.53 [{'connected_gene': 'AQP3', 'score': 564.0}, {'connected_gene': 'AQP7', 'score': 20.34}, {'connected_gene': 'NOL6', 'score': 11.48}, {'connected_gene': 'PTENP1', 'score': 5.69}, {'connected_gene': 'NFX1', 'score': 1.63}, {'connected_gene': 'BAG1', 'score': 1.25}, {'connected_gene': 'SMU1', 'score': 1.22}, {'connected_gene': 'PIR43065', 'score': 0.26}]
chr9 GH09I033461 33461554 33462665 0.38 [{'connected_gene': 'AQP3', 'score': 13.84}, {'connected_gene': 'AQP7', 'score': 11.59}, {'connected_gene': 'LOC105376020', 'score': 11.57}, {'connected_gene': 'BAG1', 'score': 9.69}, {'connected_gene': 'CHMP5', 'score': 9.69}, {'connected_gene': 'ANKRD18B', 'score': 9.11}, {'connected_gene': 'CYP4F26P', 'score': 4.57}, {'connected_gene': 'GC09P033453', 'score': 0.44}, {'connected_gene': 'MIR6851', 'score': 0.44}, {'connected_gene': 'NOL6', 'score': 0.39}]
chr9 GH09I033239 33239524 33240821 1.45 [{'connected_gene': 'SPINK4', 'score': 561.9}, {'connected_gene': 'BAG1', 'score': 12.59}, {'connected_gene': 'CHMP5', 'score': 12.59}, {'connected_gene': 'SMU1', 'score': 11.25}, {'connected_gene': 'B4GALT1-AS1', 'score': 11.05}, {'connected_gene': 'B4GALT1', 'score': 11.05}, {'connected_gene': 'RNU4ATAC15P', 'score': 10.69}, {'connected_gene': 'NFX1', 'score': 10.17}, {'connected_gene': 'GC09P033251', 'score': 0.39}, {'connected_gene': 'GC09M033166', 'score': 0.22}, {'connected_gene': 'GC09M033168', 'score': 0.22}, {'connected_gene': 'GC09M033167', 'score': 0.22}]
chr9 GH09I033064 33064972 33066200 0.8 [{'connected_gene': 'SPINK4', 'score': 11.17}, {'connected_gene': 'B4GALT1-AS1', 'score': 11.06}, {'connected_gene': 'B4GALT1', 'score': 11.06}, {'connected_gene': 'DNAJA1', 'score': 10.56}, {'connected_gene': 'APTX', 'score': 10.56}, {'connected_gene': 'BAG1', 'score': 10.52}, {'connected_gene': 'CHMP5', 'score': 10.52}, {'connected_gene': 'NFX1', 'score': 10.05}, {'connected_gene': 'SMU1', 'score': 8.75}, {'connected_gene': 'PIR52670', 'score': 0.34}]
chr9 GH09I033108 33108854 33110641 0.38 [{'connected_gene': 'B4GALT1', 'score': 23.98}, {'connected_gene': 'SMU1', 'score': 12.68}, {'connected_gene': 'B4GALT1-AS1', 'score': 11.78}, {'connected_gene': 'RNU4ATAC15P', 'score': 11.63}, {'connected_gene': 'BAG1', 'score': 10.91}, {'connected_gene': 'CHMP5', 'score': 10.91}, {'connected_gene': 'SPINK4', 'score': 10.78}]
chr9 GH09I033133 33133699 33146569 1.38 [{'connected_gene': 'B4GALT1', 'score': 34.83}, {'connected_gene': 'B4GALT1-AS1', 'score': 12.39}, {'connected_gene': 'RNU4ATAC15P', 'score': 12.0}, {'connected_gene': 'SPINK4', 'score': 11.52}, {'connected_gene': 'SMU1', 'score': 11.25}, {'connected_gene': 'BAG1', 'score': 10.86}, {'connected_gene': 'CHMP5', 'score': 10.86}, {'connected_gene': 'OSTCP8', 'score': 4.56}]
chr9 GH09I033221 33221063 33222379 0.89 [{'connected_gene': 'RNU4ATAC15P', 'score': 12.02}, {'connected_gene': 'B4GALT1-AS1', 'score': 11.65}, {'connected_gene': 'B4GALT1', 'score': 11.65}, {'connected_gene': 'SMU1', 'score': 11.3}, {'connected_gene': 'BAG1', 'score': 10.68}, {'connected_gene': 'CHMP5', 'score': 10.68}, {'connected_gene': 'SPINK4', 'score': 0.77}, {'connected_gene': 'GC09P033251', 'score': 0.31}, {'connected_gene': 'GC09M033166', 'score': 0.18}, {'connected_gene': 'GC09M033168', 'score': 0.18}, {'connected_gene': 'GC09M033167', 'score': 0.18}]
chr9 GH09I033349 33349314 33351800 0.96 [{'connected_gene': 'LOC105376018', 'score': 550.77}, {'connected_gene': 'NFX1', 'score': 40.58}, {'connected_gene': 'BAG1', 'score': 16.31}, {'connected_gene': 'LOC105376020', 'score': 11.14}, {'connected_gene': 'AQP7', 'score': 11.14}, {'connected_gene': 'CHMP5', 'score': 10.87}, {'connected_gene': 'PIR45697', 'score': 0.44}, {'connected_gene': 'GC09P033345', 'score': 0.44}]
chr9 GH09I033197 33197352 33198555 0.63 [{'connected_gene': 'B4GALT1-AS1', 'score': 11.83}, {'connected_gene': 'B4GALT1', 'score': 11.83}, {'connected_gene': 'RNU4ATAC15P', 'score': 11.47}, {'connected_gene': 'BAG1', 'score': 10.88}, {'connected_gene': 'CHMP5', 'score': 10.88}, {'connected_gene': 'NDUFB6', 'score': 6.33}, {'connected_gene': 'GC09P033176', 'score': 0.34}, {'connected_gene': 'SPINK4', 'score': 0.34}, {'connected_gene': 'GC09M033166', 'score': 0.15}, {'connected_gene': 'GC09M033168', 'score': 0.15}, {'connected_gene': 'GC09M033167', 'score': 0.15}]
chr9 GH09I033250 33250040 33251129 0.63 [{'connected_gene': 'GC09P033251', 'score': 550.77}, {'connected_gene': 'BAG1', 'score': 4.59}, {'connected_gene': 'SPINK4', 'score': 0.29}, {'connected_gene': 'GC09M033166', 'score': 0.25}, {'connected_gene': 'GC09M033168', 'score': 0.25}, {'connected_gene': 'GC09M033167', 'score': 0.25}]
chr9 GH09I033249 33249443 33249592 0.52 [{'connected_gene': 'GC09P033251', 'score': 550.77}, {'connected_gene': 'BAG1', 'score': 6.24}, {'connected_gene': 'SPINK4', 'score': 0.29}, {'connected_gene': 'GC09M033166', 'score': 0.25}, {'connected_gene': 'GC09M033168', 'score': 0.25}, {'connected_gene': 'GC09M033167', 'score': 0.25}]
chr9 GH09I033255 33255203 33256451 0.43 [{'connected_gene': 'GC09M033252', 'score': 550.77}, {'connected_gene': 'NFX1', 'score': 10.33}, {'connected_gene': 'BAG1', 'score': 6.31}, {'connected_gene': 'GC09M033264', 'score': 0.44}, {'connected_gene': 'GC09M033166', 'score': 0.26}, {'connected_gene': 'GC09M033168', 'score': 0.26}, {'connected_gene': 'GC09M033167', 'score': 0.26}]

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