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
ENST00000490408 [[116018114, 116018323], [116018734, 116018828], [116034706, 116034828], [116035608, 116035718], [116037661, 116037829]] None
ENST00000374206 [[116029287, 116029719], [116034706, 116034828], [116035608, 116035718], [116037661, 116037869]] [[116029542, 116029719], [116034706, 116034787]]
NM_139286 [[116029287, 116029719], [116034706, 116034828], [116035608, 116035718], [116037661, 116037869]] [[116029542, 116029719], [116034706, 116034787]]
Promoter
Chrom Start End Description
chr9 116037678 116037700 CAGE_peak_2_at_CDC26_5end
chr9 116037719 116037739 CAGE_peak_3_at_CDC26_5end
chr9 116037840 116037876 CAGE_peak_1_at_CDC26_5end,CAGE_peak_2_at_FKBP15_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I113011 113011601 113012830 1.1 [{'connected_gene': 'PRPF4', 'score': 20.71}, {'connected_gene': 'ZFP37', 'score': 12.5}, {'connected_gene': 'CDC26', 'score': 11.57}, {'connected_gene': 'ZNF618', 'score': 11.46}, {'connected_gene': 'PIR31639', 'score': 0.37}, {'connected_gene': 'ZNF883', 'score': 0.28}]
chr9 GH09I113235 113235801 113236000 0.38 [{'connected_gene': 'PRPF4', 'score': 10.64}, {'connected_gene': 'CDC26', 'score': 10.64}, {'connected_gene': 'SLC31A1', 'score': 0.39}, {'connected_gene': 'PIR39900', 'score': 0.31}]
chr9 GH09I113274 113274305 113276814 2.32 [{'connected_gene': 'PRPF4', 'score': 610.94}, {'connected_gene': 'CDC26', 'score': 587.44}, {'connected_gene': 'PIR61584', 'score': 550.77}, {'connected_gene': 'GC09P114623', 'score': 550.77}, {'connected_gene': 'WDR31', 'score': 13.71}, {'connected_gene': 'FKBP15', 'score': 11.24}, {'connected_gene': 'PTBP3', 'score': 9.99}, {'connected_gene': 'SLC31A2', 'score': 6.67}, {'connected_gene': 'RGS3', 'score': 2.62}]
chr9 GH09I113268 113268991 113270303 0.2 [{'connected_gene': 'PRPF4', 'score': 35.76}, {'connected_gene': 'CDC26', 'score': 28.01}, {'connected_gene': 'WDR31', 'score': 17.12}, {'connected_gene': 'SLC31A1', 'score': 11.21}, {'connected_gene': 'FKBP15', 'score': 11.21}, {'connected_gene': 'RNF183', 'score': 10.51}, {'connected_gene': 'POLE3', 'score': 9.98}, {'connected_gene': 'C9orf43', 'score': 9.98}, {'connected_gene': 'PIR39900', 'score': 0.44}]
chr9 GH09I113293 113293079 113294230 0.38 [{'connected_gene': 'PRPF4', 'score': 50.77}, {'connected_gene': 'ALAD', 'score': 10.45}, {'connected_gene': 'WDR31', 'score': 10.29}, {'connected_gene': 'BSPRY', 'score': 5.39}, {'connected_gene': 'RNF183', 'score': 0.44}, {'connected_gene': 'CDC26', 'score': 0.37}]
chr9 GH09I114154 114154801 114160156 2.3 [{'connected_gene': 'COL27A1', 'score': 558.91}, {'connected_gene': 'CDC26', 'score': 4.45}, {'connected_gene': 'LOC105376225', 'score': 0.77}, {'connected_gene': 'GC09P114665', 'score': 0.39}]
chr9 GH09I113372 113372037 113383962 2.46 [{'connected_gene': 'HDHD3', 'score': 571.17}, {'connected_gene': 'PRPF4', 'score': 16.11}, {'connected_gene': 'POLE3', 'score': 11.45}, {'connected_gene': 'C9orf43', 'score': 11.45}, {'connected_gene': 'RNF183', 'score': 11.35}, {'connected_gene': 'ALAD', 'score': 10.52}, {'connected_gene': 'CDC26', 'score': 10.47}, {'connected_gene': 'BSPRY', 'score': 7.36}]
chr9 GH09I113289 113289161 113289310 0.31 [{'connected_gene': 'HDHD3', 'score': 11.41}, {'connected_gene': 'ALAD', 'score': 10.18}, {'connected_gene': 'RNF183', 'score': 0.39}, {'connected_gene': 'PRPF4', 'score': 0.39}, {'connected_gene': 'CDC26', 'score': 0.39}]
chr9 GH09I113463 113463101 113465006 2.1 [{'connected_gene': 'RGS3', 'score': 565.27}, {'connected_gene': 'C9orf43', 'score': 54.44}, {'connected_gene': 'PRPF4', 'score': 25.26}, {'connected_gene': 'CDC26', 'score': 20.05}, {'connected_gene': 'POLE3', 'score': 11.53}, {'connected_gene': 'FKBP15', 'score': 11.48}, {'connected_gene': 'ALAD', 'score': 10.77}, {'connected_gene': 'RNF183', 'score': 10.61}, {'connected_gene': 'GC09P114125', 'score': 0.18}]
chr9 GH09I113563 113563953 113567058 2.05 [{'connected_gene': 'RGS3', 'score': 565.03}, {'connected_gene': 'C9orf43', 'score': 52.86}, {'connected_gene': 'RNF183', 'score': 10.3}, {'connected_gene': 'POLE3', 'score': 10.01}, {'connected_gene': 'CDC26', 'score': 9.64}, {'connected_gene': 'PRPF4', 'score': 9.63}, {'connected_gene': 'ALAD', 'score': 9.18}, {'connected_gene': 'GC09P114124', 'score': 0.77}, {'connected_gene': 'GC09P114125', 'score': 0.34}]
chr9 GH09I113466 113465041 113465132 0.63 [{'connected_gene': 'RGS3', 'score': 26.89}, {'connected_gene': 'ALAD', 'score': 10.36}, {'connected_gene': 'PRPF4', 'score': 9.61}, {'connected_gene': 'CDC26', 'score': 9.61}, {'connected_gene': 'GC09P114125', 'score': 0.18}]
chr9 GH09I113465 113465621 113465750 0.86 [{'connected_gene': 'RGS3', 'score': 11.99}, {'connected_gene': 'ALAD', 'score': 10.36}, {'connected_gene': 'PRPF4', 'score': 9.61}, {'connected_gene': 'CDC26', 'score': 9.61}, {'connected_gene': 'GC09P114125', 'score': 0.18}]
chr9 GH09I113415 113415919 113417170 0.86 [{'connected_gene': 'RGS3', 'score': 26.9}, {'connected_gene': 'RNF183', 'score': 10.31}, {'connected_gene': 'PRPF4', 'score': 10.19}, {'connected_gene': 'CDC26', 'score': 10.19}, {'connected_gene': 'POLE3', 'score': 0.44}, {'connected_gene': 'C9orf43', 'score': 0.44}]
chr9 GH09I112716 112716843 112718972 2.04 [{'connected_gene': 'INIP', 'score': 550.77}, {'connected_gene': 'PRPF4', 'score': 36.37}, {'connected_gene': 'FKBP15', 'score': 11.44}, {'connected_gene': 'CDC26', 'score': 10.46}, {'connected_gene': 'RPL32P22', 'score': 10.07}, {'connected_gene': 'PTBP3', 'score': 10.02}, {'connected_gene': 'GC09P112628', 'score': 0.17}]
chr9 GH09I113609 113609327 113611501 1.29 [{'connected_gene': 'C9orf43', 'score': 15.9}, {'connected_gene': 'PRPF4', 'score': 11.87}, {'connected_gene': 'CDC26', 'score': 11.56}, {'connected_gene': 'RGS3', 'score': 10.62}, {'connected_gene': 'ALAD', 'score': 9.95}, {'connected_gene': 'SLC31A1', 'score': 9.67}, {'connected_gene': 'FKBP15', 'score': 9.67}, {'connected_gene': 'LOC105376222', 'score': 0.77}, {'connected_gene': 'LOC105376221', 'score': 0.34}]
chr9 GH09I113511 113510881 113513956 1.45 [{'connected_gene': 'C9orf43', 'score': 43.06}, {'connected_gene': 'RGS3', 'score': 26.37}, {'connected_gene': 'ALAD', 'score': 15.44}, {'connected_gene': 'RNF183', 'score': 10.85}, {'connected_gene': 'PRPF4', 'score': 9.94}, {'connected_gene': 'CDC26', 'score': 9.94}, {'connected_gene': 'GC09P114125', 'score': 0.29}]
chr9 GH09I113514 113514155 113515212 0.2 [{'connected_gene': 'C9orf43', 'score': 42.99}, {'connected_gene': 'RGS3', 'score': 25.97}, {'connected_gene': 'ALAD', 'score': 10.47}, {'connected_gene': 'RNF183', 'score': 9.89}, {'connected_gene': 'PRPF4', 'score': 9.28}, {'connected_gene': 'CDC26', 'score': 9.28}, {'connected_gene': 'GC09P114125', 'score': 0.31}]
chr9 GH09I113515 113515448 113516515 0.31 [{'connected_gene': 'C9orf43', 'score': 32.57}, {'connected_gene': 'RGS3', 'score': 11.06}, {'connected_gene': 'ALAD', 'score': 10.47}, {'connected_gene': 'RNF183', 'score': 9.89}, {'connected_gene': 'PRPF4', 'score': 9.28}, {'connected_gene': 'CDC26', 'score': 9.28}, {'connected_gene': 'GC09P114125', 'score': 0.31}]
chr9 GH09I113569 113569847 113571800 0.66 [{'connected_gene': 'C9orf43', 'score': 42.45}, {'connected_gene': 'RGS3', 'score': 26.13}, {'connected_gene': 'ALAD', 'score': 20.16}, {'connected_gene': 'RNF183', 'score': 10.3}, {'connected_gene': 'POLE3', 'score': 10.02}, {'connected_gene': 'CDC26', 'score': 9.63}, {'connected_gene': 'PRPF4', 'score': 9.63}, {'connected_gene': 'GC09P114124', 'score': 0.77}, {'connected_gene': 'LOC105376221', 'score': 0.37}]
chr9 GH09I113516 113516651 113527759 1.59 [{'connected_gene': 'C9orf43', 'score': 42.98}, {'connected_gene': 'RGS3', 'score': 26.36}, {'connected_gene': 'ALAD', 'score': 15.41}, {'connected_gene': 'RNF183', 'score': 10.67}, {'connected_gene': 'CDC26', 'score': 9.9}, {'connected_gene': 'PRPF4', 'score': 9.9}, {'connected_gene': 'SLC31A2', 'score': 1.36}, {'connected_gene': 'GC09P114125', 'score': 0.34}]
chr9 GH09I113468 113468678 113469595 0.83 [{'connected_gene': 'C9orf43', 'score': 43.13}, {'connected_gene': 'RGS3', 'score': 11.99}, {'connected_gene': 'RNF183', 'score': 10.64}, {'connected_gene': 'ALAD', 'score': 10.36}, {'connected_gene': 'PRPF4', 'score': 9.61}, {'connected_gene': 'CDC26', 'score': 9.61}, {'connected_gene': 'GC09P114125', 'score': 0.19}]
chr9 GH09I113558 113558554 113561035 1.26 [{'connected_gene': 'C9orf43', 'score': 42.67}, {'connected_gene': 'RGS3', 'score': 15.03}, {'connected_gene': 'RNF183', 'score': 10.38}, {'connected_gene': 'ALAD', 'score': 10.3}, {'connected_gene': 'POLE3', 'score': 10.24}, {'connected_gene': 'CDC26', 'score': 9.64}, {'connected_gene': 'PRPF4', 'score': 9.64}, {'connected_gene': 'GC09P114124', 'score': 0.44}, {'connected_gene': 'GC09P114125', 'score': 0.37}]
chr9 GH09I113409 113409252 113411989 2.11 [{'connected_gene': 'C9orf43', 'score': 557.42}, {'connected_gene': 'POLE3', 'score': 550.77}, {'connected_gene': 'PRPF4', 'score': 25.78}, {'connected_gene': 'RGS3', 'score': 15.19}, {'connected_gene': 'FKBP15', 'score': 11.49}, {'connected_gene': 'CDC26', 'score': 10.55}]
chr9 GH09I113562 113562856 113563443 0.49 [{'connected_gene': 'C9orf43', 'score': 52.86}, {'connected_gene': 'RNF183', 'score': 10.31}, {'connected_gene': 'POLE3', 'score': 10.01}, {'connected_gene': 'CDC26', 'score': 9.64}, {'connected_gene': 'PRPF4', 'score': 9.64}, {'connected_gene': 'GC09P114124', 'score': 0.44}, {'connected_gene': 'GC09P114125', 'score': 0.34}, {'connected_gene': 'RGS3', 'score': 0.13}]
chr9 GH09I113564 113563474 113563813 0.2 [{'connected_gene': 'C9orf43', 'score': 42.44}, {'connected_gene': 'RNF183', 'score': 10.3}, {'connected_gene': 'POLE3', 'score': 10.01}, {'connected_gene': 'CDC26', 'score': 9.64}, {'connected_gene': 'PRPF4', 'score': 9.64}, {'connected_gene': 'GC09P114124', 'score': 0.44}, {'connected_gene': 'GC09P114125', 'score': 0.34}, {'connected_gene': 'RGS3', 'score': 0.13}]
chr9 GH09I113227 113227686 113228888 0.88 [{'connected_gene': 'CDC26', 'score': 30.02}, {'connected_gene': 'PRPF4', 'score': 10.37}, {'connected_gene': 'SLC31A2', 'score': 9.98}, {'connected_gene': 'RNF183', 'score': 9.89}, {'connected_gene': 'SLC31A1', 'score': 0.44}, {'connected_gene': 'PIR39900', 'score': 0.29}]
chr9 GH09I113218 113218551 113223600 2.36 [{'connected_gene': 'FKBP15', 'score': 553.29}, {'connected_gene': 'SLC31A1', 'score': 550.77}, {'connected_gene': 'CDC26', 'score': 20.95}, {'connected_gene': 'PRPF4', 'score': 19.79}, {'connected_gene': 'WDR31', 'score': 12.27}, {'connected_gene': 'SLC31A2', 'score': 5.83}, {'connected_gene': 'SNX30', 'score': 4.64}, {'connected_gene': 'SLC46A2', 'score': 3.01}, {'connected_gene': 'RGS3', 'score': 1.57}, {'connected_gene': 'PIR31842', 'score': 0.22}]
chr9 GH09I113386 113386466 113389858 1.08 [{'connected_gene': 'ALAD', 'score': 12.76}, {'connected_gene': 'POLE3', 'score': 11.5}, {'connected_gene': 'C9orf43', 'score': 11.5}, {'connected_gene': 'RNF183', 'score': 11.33}, {'connected_gene': 'PRPF4', 'score': 10.46}, {'connected_gene': 'CDC26', 'score': 10.46}, {'connected_gene': 'HDHD3', 'score': 5.15}]
chr9 GH09I113365 113365350 113365734 0.31 [{'connected_gene': 'ALAD', 'score': 11.99}, {'connected_gene': 'RNF183', 'score': 11.31}, {'connected_gene': 'C9orf43', 'score': 10.65}, {'connected_gene': 'POLE3', 'score': 10.64}, {'connected_gene': 'CDC26', 'score': 10.37}, {'connected_gene': 'PRPF4', 'score': 10.36}, {'connected_gene': 'BSPRY', 'score': 7.45}, {'connected_gene': 'HDHD3', 'score': 0.39}]
chr9 GH09I113302 113302776 113303654 0.74 [{'connected_gene': 'RNF183', 'score': 550.77}, {'connected_gene': 'CDC26', 'score': 23.35}, {'connected_gene': 'PRPF4', 'score': 11.12}, {'connected_gene': 'WDR31', 'score': 11.12}, {'connected_gene': 'ALAD', 'score': 10.96}, {'connected_gene': 'POLE3', 'score': 9.99}, {'connected_gene': 'C9orf43', 'score': 9.99}]
chr9 GH09I113224 113224121 113224270 0.56 [{'connected_gene': 'SLC31A2', 'score': 17.26}, {'connected_gene': 'PRPF4', 'score': 10.36}, {'connected_gene': 'CDC26', 'score': 10.36}, {'connected_gene': 'RNF183', 'score': 9.62}, {'connected_gene': 'SLC31A1', 'score': 0.77}, {'connected_gene': 'PIR39900', 'score': 0.28}]
chr9 GH09I113131 113131644 113132006 1.02 [{'connected_gene': 'SLC31A2', 'score': 12.66}, {'connected_gene': 'SLC31A1', 'score': 9.38}, {'connected_gene': 'FKBP15', 'score': 9.38}, {'connected_gene': 'CDC26', 'score': 9.24}, {'connected_gene': 'PRPF4', 'score': 9.24}, {'connected_gene': 'FAM225B', 'score': 8.78}, {'connected_gene': 'HDHD3', 'score': 5.67}, {'connected_gene': 'RGS3', 'score': 2.26}, {'connected_gene': 'SNX30', 'score': 2.18}, {'connected_gene': 'PIR44474', 'score': 0.39}]
chr9 GH09I113137 113137414 113138381 0.85 [{'connected_gene': 'SLC31A1', 'score': 10.58}, {'connected_gene': 'FKBP15', 'score': 10.58}, {'connected_gene': 'PRPF4', 'score': 9.82}, {'connected_gene': 'CDC26', 'score': 9.82}, {'connected_gene': 'HDHD3', 'score': 4.46}, {'connected_gene': 'SLC31A2', 'score': 0.39}, {'connected_gene': 'PIR44474', 'score': 0.37}]
chr9 GH09I113339 113339316 113341000 2.1 [{'connected_gene': 'WDR31', 'score': 555.5}, {'connected_gene': 'PRPF4', 'score': 31.26}, {'connected_gene': 'CDC26', 'score': 15.08}, {'connected_gene': 'BSPRY', 'score': 14.13}, {'connected_gene': 'RNF183', 'score': 11.38}, {'connected_gene': 'RPL32P22', 'score': 11.15}, {'connected_gene': 'ALAD', 'score': 10.57}, {'connected_gene': 'C9orf43', 'score': 9.89}, {'connected_gene': 'POLE3', 'score': 9.88}, {'connected_gene': 'HDHD3', 'score': 4.81}, {'connected_gene': 'PIR31470', 'score': 0.31}, {'connected_gene': 'GC09M113311', 'score': 0.31}]
chr9 GH09I113299 113299727 113300400 0.94 [{'connected_gene': 'WDR31', 'score': 15.55}, {'connected_gene': 'PRPF4', 'score': 11.04}, {'connected_gene': 'CDC26', 'score': 11.04}, {'connected_gene': 'ALAD', 'score': 10.59}, {'connected_gene': 'RNF183', 'score': 0.77}]
chr9 GH09I113647 113647637 113651571 1.32 [{'connected_gene': 'LOC105376223', 'score': 550.77}, {'connected_gene': 'RGS3', 'score': 11.32}, {'connected_gene': 'POLE3', 'score': 10.54}, {'connected_gene': 'C9orf43', 'score': 10.54}, {'connected_gene': 'ALAD', 'score': 10.43}, {'connected_gene': 'RNF183', 'score': 10.4}, {'connected_gene': 'PRPF4', 'score': 10.21}, {'connected_gene': 'CDC26', 'score': 10.21}, {'connected_gene': 'LOC100288542', 'score': 0.14}]
chr9 GH09I113653 113653745 113654000 0.31 [{'connected_gene': 'LOC105376221', 'score': 12.73}, {'connected_gene': 'RGS3', 'score': 12.6}, {'connected_gene': 'PRPF4', 'score': 10.54}, {'connected_gene': 'CDC26', 'score': 10.54}, {'connected_gene': 'POLE3', 'score': 10.47}, {'connected_gene': 'C9orf43', 'score': 10.47}, {'connected_gene': 'RNF183', 'score': 10.4}, {'connected_gene': 'LOC105376223', 'score': 0.44}, {'connected_gene': 'LOC100288542', 'score': 0.14}]
chr9 GH09I113654 113654126 113656150 0.99 [{'connected_gene': 'LOC105376221', 'score': 12.73}, {'connected_gene': 'RGS3', 'score': 12.6}, {'connected_gene': 'POLE3', 'score': 10.62}, {'connected_gene': 'C9orf43', 'score': 10.61}, {'connected_gene': 'PRPF4', 'score': 10.54}, {'connected_gene': 'CDC26', 'score': 10.54}, {'connected_gene': 'RNF183', 'score': 9.87}, {'connected_gene': 'LOC105376223', 'score': 0.44}, {'connected_gene': 'LOC100288542', 'score': 0.15}]
chr9 GH09I113587 113587049 113590690 1.12 [{'connected_gene': 'LOC105376221', 'score': 550.77}, {'connected_gene': 'C9orf43', 'score': 53.6}, {'connected_gene': 'RGS3', 'score': 26.36}, {'connected_gene': 'PRPF4', 'score': 25.6}, {'connected_gene': 'ALAD', 'score': 19.52}, {'connected_gene': 'POLE3', 'score': 10.7}, {'connected_gene': 'RNF183', 'score': 10.34}, {'connected_gene': 'CDC26', 'score': 9.61}, {'connected_gene': 'GC09P114124', 'score': 0.34}]
chr9 GH09I113567 113567716 113569572 0.94 [{'connected_gene': 'GC09P114124', 'score': 550.77}, {'connected_gene': 'C9orf43', 'score': 42.44}, {'connected_gene': 'RNF183', 'score': 10.3}, {'connected_gene': 'POLE3', 'score': 10.01}, {'connected_gene': 'CDC26', 'score': 9.63}, {'connected_gene': 'PRPF4', 'score': 9.63}, {'connected_gene': 'GC09P114125', 'score': 0.31}, {'connected_gene': 'RGS3', 'score': 0.13}]

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