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
ENST00000238379 [[116135698, 116136809], [116137732, 116138455]] [[116135878, 116136634]]
ENST00000374180 [[116135698, 116136809], [116137732, 116137847], [116139008, 116139279]] [[116135878, 116136634]]
ENST00000485934 [[116136167, 116136809], [116137732, 116137806], [116139008, 116139205]] None
NM_031219 [[116135695, 116136809], [116137732, 116138341]] [[116135878, 116136634]]
NM_001304509 [[116135695, 116136809], [116137732, 116137847], [116139008, 116139289]] [[116135878, 116136634]]
NM_001304510 [[116135695, 116136809], [116137732, 116137806], [116139008, 116139289]] [[116135878, 116136634]]
NM_001304511 [[116135695, 116136809], [116139008, 116139289]] [[116135878, 116136634]]
Promoter
Chrom Start End Description
chr9 116139206 116139240 CAGE_peak_2_at_HDHD3_5end
chr9 116139255 116139276 CAGE_peak_1_at_HDHD3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 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 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 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 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 GH09I113395 113395043 113395880 0.89 [{'connected_gene': 'ALAD', 'score': 0.44}, {'connected_gene': 'HDHD3', 'score': 0.37}]
chr9 GH09I113393 113393247 113393796 0.46 [{'connected_gene': 'ALAD', 'score': 0.44}, {'connected_gene': 'HDHD3', 'score': 0.37}]
chr9 GH09I113390 113390309 113391220 0.2 [{'connected_gene': 'ALAD', 'score': 10.24}, {'connected_gene': 'HDHD3', 'score': 0.39}]
chr9 GH09I113396 113396519 113402181 2.46 [{'connected_gene': 'ALAD', 'score': 561.91}, {'connected_gene': 'RGS3', 'score': 10.16}, {'connected_gene': 'POLE3', 'score': 5.49}, {'connected_gene': 'HDHD3', 'score': 0.34}]
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 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 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 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 GH09I113166 113166531 113167085 0.2 [{'connected_gene': 'PIR31842', 'score': 550.77}, {'connected_gene': 'HDHD3', 'score': 5.88}, {'connected_gene': 'FKBP15', 'score': 0.23}]