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
ENST00000595464 [[47835403, 47835606], [47844041, 47846606]] [[47844056, 47845070]]
ENST00000600626 [[47840370, 47840426], [47844041, 47845272]] [[47844056, 47845070]]
ENST00000257267 [[47844039, 47845272]] [[47844056, 47845070]]
NM_001271749 [[47835403, 47835606], [47844041, 47845272]] [[47844056, 47845070]]
NM_018485 [[47840261, 47840426], [47844041, 47845272]] [[47844056, 47845070]]
NM_001271750 [[47843743, 47843869], [47844041, 47845272]] [[47844056, 47845070]]
Promoter
Chrom Start End Description
chr19 47835425 47835441 CAGE_peak_1_at_GPR77_5end
chr19 47840346 47840365 CAGE_peak_2_at_GPR77_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I047296 47296224 47296413 0.75 [{'connected_gene': 'DHX34', 'score': 11.86}, {'connected_gene': 'C5AR1', 'score': 0.44}, {'connected_gene': 'C5AR2', 'score': 0.28}]
chr19 GH19I047363 47363412 47364952 0.92 [{'connected_gene': 'DHX34', 'score': 36.97}, {'connected_gene': 'C5AR1', 'score': 27.87}, {'connected_gene': 'ZC3H4', 'score': 20.37}, {'connected_gene': 'C5AR2', 'score': 9.46}, {'connected_gene': 'CCDC9', 'score': 7.59}, {'connected_gene': 'NAPA', 'score': 7.27}, {'connected_gene': 'GC19P047354', 'score': 0.39}, {'connected_gene': 'PIR41927', 'score': 0.39}, {'connected_gene': 'GC19P047388', 'score': 0.34}]
chr19 GH19I047369 47369394 47371359 1.01 [{'connected_gene': 'DHX34', 'score': 57.71}, {'connected_gene': 'C5AR1', 'score': 45.19}, {'connected_gene': 'ZC3H4', 'score': 22.79}, {'connected_gene': 'C5AR2', 'score': 13.77}, {'connected_gene': 'CCDC9', 'score': 10.27}, {'connected_gene': 'NAPA', 'score': 9.96}, {'connected_gene': 'GC19P047388', 'score': 0.37}, {'connected_gene': 'GC19P047354', 'score': 0.37}, {'connected_gene': 'PIR41927', 'score': 0.37}]
chr19 GH19I047295 47295984 47296133 0.64 [{'connected_gene': 'DHX34', 'score': 11.86}, {'connected_gene': 'CCDC9', 'score': 7.35}, {'connected_gene': 'C5AR1', 'score': 0.44}, {'connected_gene': 'C5AR2', 'score': 0.28}]
chr19 GH19I047300 47300124 47300273 0.59 [{'connected_gene': 'DHX34', 'score': 11.77}, {'connected_gene': 'SAE1', 'score': 9.93}, {'connected_gene': 'CCDC9', 'score': 6.99}, {'connected_gene': 'C5AR1', 'score': 0.39}, {'connected_gene': 'C5AR2', 'score': 0.29}]
chr19 GH19I047509 47509390 47516495 2.62 [{'connected_gene': 'NAPA', 'score': 555.64}, {'connected_gene': 'ZC3H4', 'score': 18.24}, {'connected_gene': 'BICRA', 'score': 15.84}, {'connected_gene': 'GRWD1', 'score': 13.67}, {'connected_gene': 'NOP53-AS1', 'score': 13.21}, {'connected_gene': 'KDELR1', 'score': 10.0}, {'connected_gene': 'KPTN', 'score': 7.3}, {'connected_gene': 'CCDC9', 'score': 5.13}, {'connected_gene': 'C5AR1', 'score': 5.09}, {'connected_gene': 'DHX34', 'score': 5.01}, {'connected_gene': 'LIG1', 'score': 4.79}, {'connected_gene': 'SULT2A1', 'score': 4.51}, {'connected_gene': 'C5AR2', 'score': 3.59}, {'connected_gene': 'NOP53', 'score': 1.17}, {'connected_gene': 'ENSG00000279861', 'score': 0.34}, {'connected_gene': 'GC19M047497', 'score': 0.26}]
chr19 GH19I047309 47309001 47316475 2.14 [{'connected_gene': 'C5AR1', 'score': 590.14}, {'connected_gene': 'DHX34', 'score': 65.45}, {'connected_gene': 'ZC3H4', 'score': 32.75}, {'connected_gene': 'C5AR2', 'score': 31.91}, {'connected_gene': 'NAPA', 'score': 17.67}, {'connected_gene': 'CCDC9', 'score': 15.23}, {'connected_gene': 'PPP5C', 'score': 10.14}, {'connected_gene': 'BBC3', 'score': 1.5}]
chr19 GH19I047323 47323201 47325400 1.15 [{'connected_gene': 'C5AR1', 'score': 27.85}, {'connected_gene': 'DHX34', 'score': 23.62}, {'connected_gene': 'ZC3H4', 'score': 17.77}, {'connected_gene': 'CCDC9', 'score': 11.05}, {'connected_gene': 'C5AR2', 'score': 10.41}, {'connected_gene': 'NAPA', 'score': 9.98}, {'connected_gene': 'ZNF541', 'score': 5.99}, {'connected_gene': 'BICRA', 'score': 1.74}]
chr19 GH19I047371 47371375 47371545 0.31 [{'connected_gene': 'C5AR1', 'score': 32.78}, {'connected_gene': 'ZC3H4', 'score': 20.94}, {'connected_gene': 'DHX34', 'score': 15.85}, {'connected_gene': 'NAPA', 'score': 9.58}, {'connected_gene': 'CCDC9', 'score': 6.75}, {'connected_gene': 'C5AR2', 'score': 6.34}, {'connected_gene': 'NOP53', 'score': 1.59}, {'connected_gene': 'BICRA', 'score': 1.42}, {'connected_gene': 'GC19P047388', 'score': 0.37}, {'connected_gene': 'GC19P047354', 'score': 0.37}, {'connected_gene': 'PIR41927', 'score': 0.37}]
chr19 GH19I047304 47304944 47305902 1.15 [{'connected_gene': 'BICRA', 'score': 10.32}, {'connected_gene': 'CCDC9', 'score': 6.04}, {'connected_gene': 'C5AR1', 'score': 0.37}, {'connected_gene': 'C5AR2', 'score': 0.31}]
chr19 GH19I047329 47329290 47332600 1.74 [{'connected_gene': 'C5AR2', 'score': 553.12}, {'connected_gene': 'NAPA', 'score': 12.23}, {'connected_gene': 'PPP5C', 'score': 10.14}, {'connected_gene': 'C5AR1', 'score': 4.86}, {'connected_gene': 'ZC3H4', 'score': 2.49}, {'connected_gene': 'DHX34', 'score': 2.17}, {'connected_gene': 'CCDC9', 'score': 1.97}, {'connected_gene': 'BICRA', 'score': 1.84}, {'connected_gene': 'NOP53', 'score': 1.28}]
chr19 GH19I047335 47335001 47338600 1.66 [{'connected_gene': 'C5AR2', 'score': 550.77}, {'connected_gene': 'SLC1A5', 'score': 12.57}, {'connected_gene': 'CCDC9', 'score': 10.23}, {'connected_gene': 'ZC3H4', 'score': 10.1}, {'connected_gene': 'DHX34', 'score': 7.16}, {'connected_gene': 'GC19P047346', 'score': 0.44}]
chr19 GH19I047383 47383001 47384200 1.24 [{'connected_gene': 'ZC3H4', 'score': 39.96}, {'connected_gene': 'DHX34', 'score': 27.18}, {'connected_gene': 'C5AR1', 'score': 22.06}, {'connected_gene': 'CCDC9', 'score': 14.8}, {'connected_gene': 'BICRA', 'score': 12.02}, {'connected_gene': 'NOP53-AS1', 'score': 11.19}, {'connected_gene': 'SNORD23', 'score': 9.75}, {'connected_gene': 'NAPA', 'score': 7.28}, {'connected_gene': 'C5AR2', 'score': 3.58}, {'connected_gene': 'NOP53', 'score': 1.38}, {'connected_gene': 'GC19P047388', 'score': 0.77}, {'connected_gene': 'GC19P047354', 'score': 0.29}, {'connected_gene': 'PIR41927', 'score': 0.29}]
chr19 GH19I047302 47302381 47302512 0.39 [{'connected_gene': 'ZC3H4', 'score': 14.78}, {'connected_gene': 'C5AR1', 'score': 13.73}, {'connected_gene': 'BICRA', 'score': 10.32}, {'connected_gene': 'DHX34', 'score': 9.94}, {'connected_gene': 'NAPA', 'score': 4.85}, {'connected_gene': 'CCDC9', 'score': 4.36}, {'connected_gene': 'C5AR2', 'score': 2.75}, {'connected_gene': 'NOP53', 'score': 1.19}]
chr19 GH19I047105 47105710 47114883 2.68 [{'connected_gene': 'ZC3H4', 'score': 618.89}, {'connected_gene': 'ENSG00000268810', 'score': 44.26}, {'connected_gene': 'BICRA', 'score': 32.41}, {'connected_gene': 'C5AR2', 'score': 32.07}, {'connected_gene': 'PRKD2', 'score': 25.22}, {'connected_gene': 'CCDC9', 'score': 25.19}, {'connected_gene': 'NOP53-AS1', 'score': 22.55}, {'connected_gene': 'SNORD23', 'score': 20.88}, {'connected_gene': 'ENSG00000268746', 'score': 20.42}, {'connected_gene': 'DHX34', 'score': 19.13}, {'connected_gene': 'EHD2', 'score': 13.25}, {'connected_gene': 'PNMA8A', 'score': 11.81}, {'connected_gene': 'TMEM160', 'score': 11.39}, {'connected_gene': 'PPP5D1', 'score': 11.12}, {'connected_gene': 'ENSG00000269124', 'score': 10.82}, {'connected_gene': 'C5AR1', 'score': 10.52}, {'connected_gene': 'INAFM1', 'score': 10.36}, {'connected_gene': 'NOP53', 'score': 10.1}, {'connected_gene': 'BBC3', 'score': 6.52}, {'connected_gene': 'NAPA', 'score': 6.5}, {'connected_gene': 'SAE1', 'score': 5.53}, {'connected_gene': 'STRN4', 'score': 1.59}, {'connected_gene': 'PTGIR', 'score': 1.47}, {'connected_gene': 'GC19P047078', 'score': 0.29}]
chr19 GH19I047321 47321601 47322200 0.54 [{'connected_gene': 'PPP5D1', 'score': 10.39}, {'connected_gene': 'C5AR2', 'score': 0.44}, {'connected_gene': 'C5AR1', 'score': 0.29}]
chr19 GH19I047388 47388401 47390356 1 [{'connected_gene': 'GC19P047388', 'score': 550.77}, {'connected_gene': 'DHX34', 'score': 47.5}, {'connected_gene': 'C5AR1', 'score': 29.87}, {'connected_gene': 'C5AR2', 'score': 18.55}, {'connected_gene': 'ZC3H4', 'score': 16.69}, {'connected_gene': 'CCDC9', 'score': 10.13}, {'connected_gene': 'NAPA', 'score': 6.93}, {'connected_gene': 'BICRA', 'score': 2.07}, {'connected_gene': 'BBC3', 'score': 1.16}, {'connected_gene': 'MEIS3', 'score': 0.29}]
chr19 GH19I047387 47387146 47387381 0.22 [{'connected_gene': 'GC19P047388', 'score': 550.77}, {'connected_gene': 'DHX34', 'score': 4.59}, {'connected_gene': 'C5AR2', 'score': 4.53}, {'connected_gene': 'C5AR1', 'score': 3.67}, {'connected_gene': 'ZC3H4', 'score': 2.11}, {'connected_gene': 'CCDC9', 'score': 2.0}, {'connected_gene': 'GC19P047354', 'score': 0.29}, {'connected_gene': 'PIR41927', 'score': 0.29}]
chr19 GH19I047351 47351644 47352200 1.26 [{'connected_gene': 'GC19P047354', 'score': 550.77}, {'connected_gene': 'PIR41927', 'score': 550.77}, {'connected_gene': 'C5AR2', 'score': 23.24}, {'connected_gene': 'DHX34', 'score': 20.28}, {'connected_gene': 'ZC3H4', 'score': 18.08}, {'connected_gene': 'C5AR1', 'score': 14.18}, {'connected_gene': 'ENSG00000268810', 'score': 13.95}, {'connected_gene': 'NOP53-AS1', 'score': 13.18}, {'connected_gene': 'BICRA', 'score': 13.08}, {'connected_gene': 'MEIS3', 'score': 6.33}, {'connected_gene': 'CCDC9', 'score': 5.74}, {'connected_gene': 'NAPA', 'score': 2.56}, {'connected_gene': 'BBC3', 'score': 1.3}]
chr19 GH19I047271 47271984 47276709 2.61 [{'connected_gene': 'PIR46471', 'score': 550.77}, {'connected_gene': 'INAFM1', 'score': 550.77}, {'connected_gene': 'CCDC9', 'score': 32.48}, {'connected_gene': 'BICRA', 'score': 17.28}, {'connected_gene': 'ZC3H4', 'score': 15.24}, {'connected_gene': 'ENSG00000268810', 'score': 10.94}, {'connected_gene': 'C5AR2', 'score': 6.97}, {'connected_gene': 'DHX34', 'score': 5.28}, {'connected_gene': 'C5AR1', 'score': 4.38}, {'connected_gene': 'HIF3A', 'score': 4.31}, {'connected_gene': 'BBC3', 'score': 4.21}, {'connected_gene': 'NOP53', 'score': 3.54}, {'connected_gene': 'NAPA', 'score': 1.63}]