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
ENST00000223500 [[33264939, 33265145], [33266007, 33266112], [33267850, 33267897], [33270620, 33270714], [33271149, 33271221], [33276453, 33276562], [33278110, 33278223], [33280806, 33281537]] [[33265076, 33265145], [33266007, 33266112], [33267850, 33267897], [33270620, 33270714], [33271149, 33271221], [33276453, 33276562], [33278110, 33278223], [33280806, 33280857]]
ENST00000419016 [[33265036, 33265145], [33266007, 33266112], [33267850, 33267897], [33270620, 33270714], [33271149, 33271221], [33276453, 33276562], [33280806, 33281977]] [[33265076, 33265145], [33266007, 33266112], [33267850, 33267897], [33270620, 33270714], [33271149, 33271221], [33276453, 33276562], [33280806, 33280826]]
ENST00000487080 [[33277790, 33278223], [33280806, 33280949]] None
NM_001195536 [[33264876, 33265145], [33266007, 33266112], [33267850, 33267897], [33270620, 33270714], [33271149, 33271221], [33276453, 33276562], [33280806, 33282067]] [[33265076, 33265145], [33266007, 33266112], [33267850, 33267897], [33270620, 33270714], [33271149, 33271221], [33276453, 33276562], [33280806, 33280826]]
NM_016410 [[33264876, 33265145], [33266007, 33266112], [33267850, 33267897], [33270620, 33270714], [33271149, 33271221], [33276453, 33276562], [33278110, 33278223], [33280806, 33282067]] [[33265076, 33265145], [33266007, 33266112], [33267850, 33267897], [33270620, 33270714], [33271149, 33271221], [33276453, 33276562], [33278110, 33278223], [33280806, 33280857]]
Promoter
Chrom Start End Description
chr9 33264846 33264860 CAGE_peak_9_at_CHMP5_5end
chr9 33264861 33264880 CAGE_peak_2_at_CHMP5_5end
chr9 33265011 33265059 CAGE_peak_1_at_CHMP5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I033472 33472114 33475000 2.26 [{'connected_gene': 'NOL6', 'score': 662.79}, {'connected_gene': 'NFX1', 'score': 135.98}, {'connected_gene': 'TOPORS', 'score': 135.28}, {'connected_gene': 'ASS1P12', 'score': 111.06}, {'connected_gene': 'SMU1', 'score': 109.34}, {'connected_gene': 'TCEA1P4', 'score': 90.52}, {'connected_gene': 'ENSG00000228352', 'score': 67.23}, {'connected_gene': 'DFFBP1', 'score': 63.58}, {'connected_gene': 'ENSG00000223440', 'score': 55.62}, {'connected_gene': 'UBAP2', 'score': 47.15}, {'connected_gene': 'SUGT1P1', 'score': 25.61}, {'connected_gene': 'LAGE3P1', 'score': 20.95}, {'connected_gene': 'APTX', 'score': 18.57}, {'connected_gene': 'DDX58', 'score': 11.89}, {'connected_gene': 'ANKRD18B', 'score': 10.54}, {'connected_gene': 'ENSG00000260947', 'score': 10.38}, {'connected_gene': 'B4GALT1', 'score': 10.06}, {'connected_gene': 'CHMP5', 'score': 9.96}, {'connected_gene': 'AQP7', 'score': 5.31}, {'connected_gene': 'MIR6851', 'score': 0.44}]
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 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 GH09I033390 33390066 33395836 1.37 [{'connected_gene': 'AQP3', 'score': 18.5}, {'connected_gene': 'AQP7', 'score': 12.4}, {'connected_gene': 'NFX1', 'score': 10.29}, {'connected_gene': 'CHMP5', 'score': 4.1}, {'connected_gene': 'PIR41360', 'score': 0.77}, {'connected_gene': 'ENSG00000200544', '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 GH09I033156 33156323 33169432 2.65 [{'connected_gene': 'B4GALT1', 'score': 577.57}, {'connected_gene': 'NFX1', 'score': 19.9}, {'connected_gene': 'NOL6', 'score': 19.1}, {'connected_gene': 'SMU1', 'score': 16.23}, {'connected_gene': 'ASS1P12', 'score': 15.7}, {'connected_gene': 'TOPORS', 'score': 15.58}, {'connected_gene': 'ENSG00000228352', 'score': 13.11}, {'connected_gene': 'DFFBP1', 'score': 12.51}, {'connected_gene': 'UBAP2', 'score': 11.24}, {'connected_gene': 'TCEA1P4', 'score': 10.95}, {'connected_gene': 'DNAJA1', 'score': 10.09}, {'connected_gene': 'ENSG00000223440', 'score': 10.01}, {'connected_gene': 'OSTCP8', 'score': 4.54}, {'connected_gene': 'CHMP5', 'score': 2.82}, {'connected_gene': 'APTX', 'score': 1.39}, {'connected_gene': 'B4GALT1-AS1', 'score': 0.77}, {'connected_gene': 'GC09M033166', 'score': 0.12}, {'connected_gene': 'GC09M033168', 'score': 0.12}, {'connected_gene': 'GC09M033167', 'score': 0.12}]
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}]

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