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
ENST00000374183 [[116111820, 116112060], [116116519, 116116618], [116122786, 116123017], [116124648, 116124674], [116130538, 116130663], [116131895, 116133513]] [[116111859, 116112060], [116116519, 116116618], [116122786, 116123017], [116124648, 116124674], [116130538, 116130663], [116131895, 116132422]]
ENST00000462085 [[116111821, 116112060], [116116519, 116116618], [116122786, 116123017], [116124648, 116124674], [116131895, 116133513]] None
NM_001317944 [[116111811, 116112060], [116116519, 116116618], [116122786, 116123017], [116124648, 116124674], [116131895, 116133513]] [[116111859, 116112060], [116116519, 116116618], [116122786, 116123017], [116124648, 116124674], [116131895, 116131920]]
NM_017688 [[116111811, 116112060], [116116519, 116116618], [116122786, 116123017], [116124648, 116124674], [116130538, 116130663], [116131895, 116133513]] [[116111859, 116112060], [116116519, 116116618], [116122786, 116123017], [116124648, 116124674], [116130538, 116130663], [116131895, 116132422]]
NM_001317943 [[116111811, 116112060], [116116519, 116116618], [116122786, 116123032], [116124648, 116124674], [116130538, 116130663], [116131895, 116133513]] [[116111859, 116112060], [116116519, 116116618], [116122786, 116123032], [116124648, 116124674], [116130538, 116130663], [116131895, 116132422]]
Promoter
Chrom Start End Description
chr9 116111794 116111868 CAGE_peak_1_at_BSPRY_5end
chr9 116111913 116111924 CAGE_peak_2_at_BSPRY_5end
chr9 116112019 116112029 CAGE_peak_3_at_BSPRY_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 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 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 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 GH09I113370 113370451 113371305 0.2 [{'connected_gene': 'HDHD3', 'score': 7.0}, {'connected_gene': 'RGS3', 'score': 5.28}, {'connected_gene': 'BSPRY', 'score': 0.34}]
chr9 GH09I113356 113356529 113357294 0.56 [{'connected_gene': 'HDHD3', 'score': 20.4}, {'connected_gene': 'WDR31', 'score': 14.73}, {'connected_gene': 'ALAD', 'score': 11.29}, {'connected_gene': 'RNF183', 'score': 10.69}, {'connected_gene': 'POLE3', 'score': 10.49}, {'connected_gene': 'C9orf43', 'score': 10.49}, {'connected_gene': 'BSPRY', 'score': 5.68}]
chr9 GH09I113371 113369078 113369364 1.32 [{'connected_gene': 'BSPRY', 'score': 8.68}, {'connected_gene': 'PRPF4', 'score': 5.44}, {'connected_gene': 'HDHD3', 'score': 0.44}]
chr9 GH09I113347 113347849 113348281 0.49 [{'connected_gene': 'BSPRY', 'score': 578.77}, {'connected_gene': 'PRPF4', 'score': 15.3}, {'connected_gene': 'RNF183', 'score': 10.85}, {'connected_gene': 'ALAD', 'score': 10.5}, {'connected_gene': 'POLE3', 'score': 10.37}, {'connected_gene': 'C9orf43', 'score': 10.37}, {'connected_gene': 'WDR31', 'score': 0.44}]
chr9 GH09I113343 113343298 113344490 1.22 [{'connected_gene': 'BSPRY', 'score': 31.65}, {'connected_gene': 'HDHD3', 'score': 21.44}, {'connected_gene': 'WDR31', 'score': 17.99}]
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 GH09I113353 113352728 113353233 0.57 [{'connected_gene': 'BSPRY', 'score': 25.64}, {'connected_gene': 'ALAD', 'score': 10.85}, {'connected_gene': 'RNF183', 'score': 10.81}, {'connected_gene': 'HDHD3', 'score': 0.34}]
chr9 GH09I113673 113673877 113677168 1.19 [{'connected_gene': 'BSPRY', 'score': 5.23}, {'connected_gene': 'ZNF618', 'score': 4.28}, {'connected_gene': 'LOC105376223', 'score': 0.31}, {'connected_gene': 'LOC100288542', 'score': 0.18}]
chr9 GH09I113349 113349110 113351762 2.02 [{'connected_gene': 'BSPRY', 'score': 579.03}, {'connected_gene': 'WDR31', 'score': 17.48}, {'connected_gene': 'ALAD', 'score': 10.83}, {'connected_gene': 'RNF183', 'score': 10.81}, {'connected_gene': 'HDHD3', 'score': 0.31}]
chr9 GH09I113345 113345261 113345410 0.31 [{'connected_gene': 'BSPRY', 'score': 0.77}, {'connected_gene': 'WDR31', 'score': 0.77}]
chr9 GH09I113354 113352121 113352270 0.54 [{'connected_gene': 'ALAD', 'score': 10.85}, {'connected_gene': 'RNF183', 'score': 10.81}, {'connected_gene': 'BSPRY', 'score': 0.77}, {'connected_gene': 'HDHD3', 'score': 0.34}]
chr9 GH09I113352 113352541 113352690 0.57 [{'connected_gene': 'ALAD', 'score': 10.85}, {'connected_gene': 'RNF183', 'score': 10.81}, {'connected_gene': 'BSPRY', 'score': 0.77}, {'connected_gene': 'HDHD3', 'score': 0.34}]
chr9 GH09I113361 113361541 113361690 0.49 [{'connected_gene': 'ALAD', 'score': 11.36}, {'connected_gene': 'RNF183', 'score': 11.24}, {'connected_gene': 'POLE3', 'score': 10.21}, {'connected_gene': 'C9orf43', 'score': 10.21}, {'connected_gene': 'BSPRY', 'score': 7.36}, {'connected_gene': 'HDHD3', 'score': 0.37}]
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 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 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 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 GH09I113687 113687903 113688393 0.66 [{'connected_gene': 'ZNF618', 'score': 4.91}, {'connected_gene': 'BSPRY', 'score': 2.99}, {'connected_gene': 'LOC105376223', 'score': 0.26}, {'connected_gene': 'LOC100288542', 'score': 0.19}]
chr9 GH09I113692 113692289 113692616 0.46 [{'connected_gene': 'ZNF618', 'score': 4.55}, {'connected_gene': 'BSPRY', 'score': 2.57}, {'connected_gene': 'LOC105376223', 'score': 0.26}, {'connected_gene': 'LOC100288542', 'score': 0.2}]
chr9 GH09I113720 113720581 113720813 0.61 [{'connected_gene': 'ZNF618', 'score': 4.03}, {'connected_gene': 'BSPRY', 'score': 2.6}, {'connected_gene': 'LOC100288542', 'score': 0.28}, {'connected_gene': 'LOC105376223', 'score': 0.19}]
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 GH09I113342 113342121 113342270 0.6 [{'connected_gene': 'WDR31', 'score': 550.77}, {'connected_gene': 'BSPRY', 'score': 12.92}, {'connected_gene': 'SLC31A1', 'score': 5.89}]
chr9 GH09I113344 113344941 113345090 0.2 [{'connected_gene': 'WDR31', 'score': 5.49}, {'connected_gene': 'BSPRY', 'score': 0.77}]
chr9 GH09I113341 113341801 113341970 0.71 [{'connected_gene': 'WDR31', 'score': 555.5}, {'connected_gene': 'BSPRY', 'score': 15.06}]

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