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
ENST00000446284 [[115923285, 115928435], [115930739, 115930836], [115931503, 115932222], [115932801, 115932909], [115933860, 115933986], [115935732, 115935885], [115936707, 115936863], [115938816, 115938953], [115940909, 115941081], [115945045, 115945148], [115946030, 115946125], [115946571, 115946679], [115946974, 115947084], [115948528, 115948643], [115950072, 115950179], [115950668, 115950771], [115952750, 115952858], [115955771, 115955829], [115956306, 115956449], [115959211, 115959358], [115961134, 115961203], [115962093, 115962243], [115964810, 115964909], [115965240, 115965315], [115968788, 115968858], [115969491, 115969576], [115973756, 115973872], [115983470, 115983598]] [[115928357, 115928435], [115930739, 115930836], [115931503, 115932222], [115932801, 115932909], [115933860, 115933986], [115935732, 115935885], [115936707, 115936863], [115938816, 115938953], [115940909, 115941081], [115945045, 115945148], [115946030, 115946125], [115946571, 115946679], [115946974, 115947084], [115948528, 115948643], [115950072, 115950179], [115950668, 115950771], [115952750, 115952858], [115955771, 115955829], [115956306, 115956449], [115959211, 115959358], [115961134, 115961203], [115962093, 115962243], [115964810, 115964909], [115965240, 115965315], [115968788, 115968858], [115969491, 115969576], [115973756, 115973872], [115983470, 115983598]]
ENST00000238256 [[115927799, 115928435], [115930739, 115930836], [115931503, 115932222], [115932801, 115932909], [115933860, 115933986], [115935732, 115935885], [115936707, 115936863], [115938816, 115938953], [115940909, 115941081], [115945045, 115945148], [115946030, 115946125], [115946571, 115946679], [115946974, 115947084], [115948528, 115948643], [115950072, 115950179], [115950668, 115950771], [115952750, 115952858], [115955771, 115955829], [115956306, 115956449], [115959211, 115959358], [115961134, 115961203], [115962093, 115962243], [115964810, 115964909], [115965240, 115965315], [115968788, 115968858], [115969491, 115969576], [115973756, 115973872], [115983470, 115983641]] [[115928357, 115928435], [115930739, 115930836], [115931503, 115932222], [115932801, 115932909], [115933860, 115933986], [115935732, 115935885], [115936707, 115936863], [115938816, 115938953], [115940909, 115941081], [115945045, 115945148], [115946030, 115946125], [115946571, 115946679], [115946974, 115947084], [115948528, 115948643], [115950072, 115950179], [115950668, 115950771], [115952750, 115952858], [115955771, 115955829], [115956306, 115956449], [115959211, 115959358], [115961134, 115961203], [115962093, 115962243], [115964810, 115964909], [115965240, 115965315], [115968788, 115968858], [115969491, 115969576], [115973756, 115973872], [115983470, 115983523]]
ENST00000489645 [[115946571, 115946679], [115946974, 115947084], [115948528, 115948643], [115950072, 115950179], [115950668, 115950841]] None
ENST00000414250 [[115948715, 115950179], [115950668, 115950771], [115952750, 115952858], [115955771, 115955829], [115956306, 115956449], [115959211, 115959358], [115961134, 115961203], [115962093, 115962243], [115964810, 115964909], [115965240, 115965315], [115968788, 115968858], [115969491, 115969576], [115973756, 115973872], [115983470, 115983598]] [[115950036, 115950179], [115950668, 115950771], [115952750, 115952858], [115955771, 115955829], [115956306, 115956449], [115959211, 115959358], [115961134, 115961203], [115962093, 115962243], [115964810, 115964909], [115965240, 115965315], [115968788, 115968858], [115969491, 115969576], [115973756, 115973872], [115983470, 115983598]]
ENST00000493847 [[115968290, 115968858], [115969491, 115969576]] None
ENST00000462889 [[115969206, 115969576], [115973756, 115973872], [115983470, 115983559]] None
NM_015258 [[115927799, 115928435], [115930739, 115930836], [115931503, 115932222], [115932801, 115932909], [115933860, 115933986], [115935732, 115935885], [115936707, 115936863], [115938816, 115938953], [115940909, 115941081], [115945045, 115945148], [115946030, 115946125], [115946571, 115946679], [115946974, 115947084], [115948528, 115948643], [115950072, 115950179], [115950668, 115950771], [115952750, 115952858], [115955771, 115955829], [115956306, 115956449], [115959211, 115959358], [115961134, 115961203], [115962093, 115962243], [115964810, 115964909], [115965240, 115965315], [115968788, 115968858], [115969491, 115969576], [115973756, 115973872], [115983470, 115983641]] [[115928357, 115928435], [115930739, 115930836], [115931503, 115932222], [115932801, 115932909], [115933860, 115933986], [115935732, 115935885], [115936707, 115936863], [115938816, 115938953], [115940909, 115941081], [115945045, 115945148], [115946030, 115946125], [115946571, 115946679], [115946974, 115947084], [115948528, 115948643], [115950072, 115950179], [115950668, 115950771], [115952750, 115952858], [115955771, 115955829], [115956306, 115956449], [115959211, 115959358], [115961134, 115961203], [115962093, 115962243], [115964810, 115964909], [115965240, 115965315], [115968788, 115968858], [115969491, 115969576], [115973756, 115973872], [115983470, 115983523]]
Promoter
Chrom Start End Description
chr9 115950267 115950281 CAGE_peak_7_at_FKBP15_5end
chr9 115950307 115950334 CAGE_peak_4_at_FKBP15_5end
chr9 115950834 115950848 CAGE_peak_6_at_FKBP15_5end
chr9 115983523 115983565 CAGE_peak_1_at_FKBP15_5end
chr9 115983568 115983605 CAGE_peak_3_at_FKBP15_5end
chr9 115983665 115983682 CAGE_peak_5_at_FKBP15_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 GH09I113205 113205601 113206188 0.49 [{'connected_gene': 'PRPF4', 'score': 14.19}, {'connected_gene': 'POLE3', 'score': 6.93}, {'connected_gene': 'BSPRY', 'score': 6.21}, {'connected_gene': 'SLC31A1', 'score': 5.59}, {'connected_gene': 'FKBP15', 'score': 0.37}, {'connected_gene': 'PIR31842', 'score': 0.26}]
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 GH09I113232 113232340 113233800 0.91 [{'connected_gene': 'PRPF4', 'score': 18.09}, {'connected_gene': 'SLC31A2', 'score': 8.13}, {'connected_gene': 'BSPRY', 'score': 6.06}, {'connected_gene': 'SLC46A2', 'score': 4.56}, {'connected_gene': 'SNX30', 'score': 2.24}, {'connected_gene': 'FKBP15', 'score': 1.95}, {'connected_gene': 'RGS3', 'score': 1.66}, {'connected_gene': 'SLC31A1', 'score': 0.39}, {'connected_gene': 'PIR39900', 'score': 0.31}]
chr9 GH09I112376 112376964 112381725 2.07 [{'connected_gene': 'HSDL2', 'score': 595.2}, {'connected_gene': 'GC09M112376', 'score': 550.77}, {'connected_gene': 'PTBP3', 'score': 15.79}, {'connected_gene': 'PRPF4', 'score': 13.36}, {'connected_gene': 'UGCG', 'score': 11.07}, {'connected_gene': 'FKBP15', 'score': 11.05}, {'connected_gene': 'SUSD1', 'score': 6.4}, {'connected_gene': 'RPL32P22', 'score': 0.37}]
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 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 GH09I112860 112860431 112864800 1.29 [{'connected_gene': 'SLC46A2', 'score': 22.99}, {'connected_gene': 'SNX30', 'score': 18.61}, {'connected_gene': 'ENSG00000226609', 'score': 15.54}, {'connected_gene': 'SLC31A2', 'score': 13.72}, {'connected_gene': 'ENSG00000271631', 'score': 6.56}, {'connected_gene': 'FKBP15', 'score': 2.07}, {'connected_gene': 'PIR49803', 'score': 0.44}]
chr9 GH09I113369 113369414 113369719 0.95 [{'connected_gene': 'BSPRY', 'score': 5.86}, {'connected_gene': 'FKBP15', 'score': 4.9}, {'connected_gene': 'SLC31A1', 'score': 4.64}, {'connected_gene': 'HDHD3', 'score': 0.44}]
chr9 GH09I113206 113206201 113206400 0.2 [{'connected_gene': 'BSPRY', 'score': 6.2}, {'connected_gene': 'FKBP15', 'score': 0.37}, {'connected_gene': 'PIR31842', 'score': 0.26}]
chr9 GH09I112893 112893767 112895533 1.06 [{'connected_gene': 'SNX30', 'score': 9.52}, {'connected_gene': 'SLC46A2', 'score': 7.88}, {'connected_gene': 'SLC31A2', 'score': 5.6}, {'connected_gene': 'FKBP15', 'score': 2.74}, {'connected_gene': 'MUPP', 'score': 0.2}]
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 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 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 GH09I113150 113150361 113156607 2.49 [{'connected_gene': 'SLC31A2', 'score': 565.56}, {'connected_gene': 'PIR43385', 'score': 550.77}, {'connected_gene': 'PRPF4', 'score': 20.19}, {'connected_gene': 'ZNF618', 'score': 13.24}, {'connected_gene': 'COL27A1', 'score': 10.62}, {'connected_gene': 'FKBP15', 'score': 7.34}, {'connected_gene': 'BSPRY', 'score': 7.28}, {'connected_gene': 'LOC105376223', 'score': 5.81}, {'connected_gene': 'WDR31', 'score': 5.72}, {'connected_gene': 'SNX30', 'score': 5.48}, {'connected_gene': 'RGS3', 'score': 2.45}, {'connected_gene': 'SLC46A2', 'score': 1.6}, {'connected_gene': 'GC09M113167', 'score': 0.44}]
chr9 GH09I113149 113149021 113150000 0.86 [{'connected_gene': 'SLC31A2', 'score': 550.77}, {'connected_gene': 'FKBP15', 'score': 5.55}, {'connected_gene': 'PIR44474', 'score': 0.31}]
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 GH09I113186 113186649 113189800 0.8 [{'connected_gene': 'SLC31A1', 'score': 17.63}, {'connected_gene': 'PRPF4', 'score': 14.56}, {'connected_gene': 'SLC31A2', 'score': 11.19}, {'connected_gene': 'FKBP15', 'score': 11.15}, {'connected_gene': 'RNF183', 'score': 10.46}, {'connected_gene': 'BSPRY', 'score': 8.77}, {'connected_gene': 'HDHD3', 'score': 6.06}, {'connected_gene': 'PIR31842', 'score': 0.34}]
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 GH09I113183 113183989 113185555 0.38 [{'connected_gene': 'SLC31A1', 'score': 17.64}, {'connected_gene': 'SLC31A2', 'score': 11.21}, {'connected_gene': 'FKBP15', 'score': 11.13}, {'connected_gene': 'PIR31842', 'score': 0.37}]
chr9 GH09I113695 113695433 113696867 0.8 [{'connected_gene': 'ZNF618', 'score': 16.35}, {'connected_gene': 'PRPF4', 'score': 12.39}, {'connected_gene': 'FKBP15', 'score': 4.85}, {'connected_gene': 'BSPRY', 'score': 2.73}, {'connected_gene': 'LOC105376223', 'score': 0.25}, {'connected_gene': 'LOC100288542', 'score': 0.21}]
chr9 GH09I113215 113215221 113215390 0.68 [{'connected_gene': 'WDR31', 'score': 8.13}, {'connected_gene': 'FKBP15', 'score': 0.44}, {'connected_gene': 'PIR31842', 'score': 0.23}]
chr9 GH09I113166 113166531 113167085 0.2 [{'connected_gene': 'PIR31842', 'score': 550.77}, {'connected_gene': 'HDHD3', 'score': 5.88}, {'connected_gene': 'FKBP15', 'score': 0.23}]
chr9 GH09I112749 112749502 112752250 2.26 [{'connected_gene': 'ENSG00000226609', 'score': 556.57}, {'connected_gene': 'SNX30', 'score': 550.77}, {'connected_gene': 'PRPF4', 'score': 13.37}, {'connected_gene': 'PTBP3', 'score': 12.12}, {'connected_gene': 'FKBP15', 'score': 11.07}, {'connected_gene': 'UGCG', 'score': 11.06}, {'connected_gene': 'ENSG00000271631', 'score': 5.09}, {'connected_gene': 'PIR49803', 'score': 0.13}]
chr9 GH09I113164 113164120 113164707 0.31 [{'connected_gene': 'PIR31842', 'score': 550.77}, {'connected_gene': 'GC09M113164', 'score': 550.77}, {'connected_gene': 'PIR58423', 'score': 550.77}, {'connected_gene': 'SLC31A1', 'score': 7.11}, {'connected_gene': 'SLC31A2', 'score': 0.39}, {'connected_gene': 'FKBP15', 'score': 0.22}]

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