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
ENST00000374210 [[115983807, 115983958], [116018393, 116018557], [116019392, 116019465], [116020973, 116021142], [116022551, 116022588], [116028515, 116028674]] [[116018428, 116018557], [116019392, 116019465], [116020973, 116021142], [116022551, 116022588], [116028515, 116028674]]
ENST00000374212 [[115983841, 115983958], [116018393, 116018557], [116019392, 116019465], [116020973, 116021142], [116022551, 116026772]] [[116018428, 116018557], [116019392, 116019465], [116020973, 116021142], [116022551, 116022753]]
ENST00000496650 [[115983866, 115983958], [115989557, 115989940]] None
NM_001859 [[115983807, 115983958], [116018393, 116018557], [116019392, 116019465], [116020973, 116021142], [116022551, 116026772]] [[116018428, 116018557], [116019392, 116019465], [116020973, 116021142], [116022551, 116022753]]
Promoter
Chrom Start End Description
chr9 115983809 115983880 CAGE_peak_1_at_SLC31A1_5end
chr9 116018445 116018462 CAGE_peak_2_at_SLC31A1_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 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 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 GH09I113249 113249296 113249645 0.37 [{'connected_gene': 'PRPF4', 'score': 17.3}, {'connected_gene': 'WDR31', 'score': 12.79}, {'connected_gene': 'PIR39900', 'score': 0.39}, {'connected_gene': 'SLC31A1', 'score': 0.31}]
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 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 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 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 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 GH09I113234 113234001 113234200 0.31 [{'connected_gene': 'SLC31A1', 'score': 0.39}, {'connected_gene': 'PIR39900', 'score': 0.31}]
chr9 GH09I114003 114003160 114005185 0.51 [{'connected_gene': 'ZNF618', 'score': 4.89}, {'connected_gene': 'SLC31A1', 'score': 4.66}, {'connected_gene': 'GC09P114664', 'score': 0.23}]
chr9 GH09I113342 113342121 113342270 0.6 [{'connected_gene': 'WDR31', 'score': 550.77}, {'connected_gene': 'BSPRY', 'score': 12.92}, {'connected_gene': 'SLC31A1', 'score': 5.89}]
chr9 GH09I113160 113160721 113160830 0.63 [{'connected_gene': 'GC09M113167', 'score': 550.77}, {'connected_gene': 'RNF183', 'score': 9.66}, {'connected_gene': 'SLC31A1', 'score': 7.01}, {'connected_gene': 'SLC31A2', 'score': 0.44}, {'connected_gene': 'PIR43385', 'score': 0.44}]
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}]