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
ENST00000270631 [[49925670, 49925899], [49926468, 49926698]] [[49925724, 49925899], [49926468, 49926596]]
NM_178449 [[49925670, 49925899], [49926468, 49926698]] [[49925724, 49925899], [49926468, 49926596]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I049812 49812166 49814985 2.41 [{'connected_gene': 'FUZ', 'score': 560.69}, {'connected_gene': 'PRMT1', 'score': 22.22}, {'connected_gene': 'PTOV1', 'score': 13.15}, {'connected_gene': 'CPT1C', 'score': 11.07}, {'connected_gene': 'ADM5', 'score': 11.07}, {'connected_gene': 'TSKS', 'score': 10.44}, {'connected_gene': 'AP2A1', 'score': 10.03}, {'connected_gene': 'PTOV1-AS2', 'score': 8.97}, {'connected_gene': 'PTOV1-AS1', 'score': 8.3}, {'connected_gene': 'PTH2', 'score': 2.28}, {'connected_gene': 'LOC105372435', 'score': 0.77}]
chr19 GH19I049430 49430384 49431217 0.86 [{'connected_gene': 'PRR12', 'score': 11.82}, {'connected_gene': 'PRMT1', 'score': 11.18}, {'connected_gene': 'PTOV1', 'score': 10.66}, {'connected_gene': 'SCAF1', 'score': 9.91}, {'connected_gene': 'PTH2', 'score': 0.77}, {'connected_gene': 'SLC17A7', 'score': 0.39}]
chr19 GH19I049427 49427820 49428800 1 [{'connected_gene': 'PRR12', 'score': 5.4}, {'connected_gene': 'PTH2', 'score': 0.77}, {'connected_gene': 'GFY', 'score': 0.44}, {'connected_gene': 'SLC17A7', 'score': 0.39}]
chr19 GH19I049439 49439849 49440204 0.25 [{'connected_gene': 'SLC17A7', 'score': 11.83}, {'connected_gene': 'PPFIA3', 'score': 7.92}, {'connected_gene': 'CPT1C', 'score': 2.74}, {'connected_gene': 'LIN7B', 'score': 1.76}, {'connected_gene': 'PRR12', 'score': 1.36}, {'connected_gene': 'TBC1D17', 'score': 1.29}, {'connected_gene': 'PTH2', 'score': 0.39}]
chr19 GH19I049442 49441517 49441773 1.29 [{'connected_gene': 'SLC17A7', 'score': 550.77}, {'connected_gene': 'ALDH16A1', 'score': 25.31}, {'connected_gene': 'CPT1C', 'score': 15.11}, {'connected_gene': 'PRR12', 'score': 13.37}, {'connected_gene': 'SNRNP70', 'score': 12.44}, {'connected_gene': 'PIH1D1', 'score': 10.11}, {'connected_gene': 'GRWD1', 'score': 10.09}, {'connected_gene': 'RASIP1', 'score': 9.68}, {'connected_gene': 'PTH2', 'score': 0.37}]
chr19 GH19I049432 49432404 49432493 0.46 [{'connected_gene': 'SLC17A7', 'score': 0.44}, {'connected_gene': 'PTH2', 'score': 0.44}]
chr19 GH19I049435 49435324 49435473 0.62 [{'connected_gene': 'SLC17A7', 'score': 0.44}, {'connected_gene': 'PTH2', 'score': 0.44}]
chr19 GH19I049424 49424024 49424153 0.76 [{'connected_gene': 'POLD1', 'score': 30.63}, {'connected_gene': 'ALDH16A1', 'score': 15.57}, {'connected_gene': 'SNORD35A', 'score': 13.85}, {'connected_gene': 'SNORD35B', 'score': 13.3}, {'connected_gene': 'IRF3', 'score': 12.35}, {'connected_gene': 'BCL2L12', 'score': 11.88}, {'connected_gene': 'NUP62', 'score': 11.33}, {'connected_gene': 'BAX', 'score': 11.05}, {'connected_gene': 'RPS11', 'score': 10.62}, {'connected_gene': 'RPL13A', 'score': 10.46}, {'connected_gene': 'MED25', 'score': 10.11}, {'connected_gene': 'GFY', 'score': 0.77}, {'connected_gene': 'PTH2', 'score': 0.77}]
chr19 GH19I049558 49558555 49562894 1.59 [{'connected_gene': 'NOSIP', 'score': 578.48}, {'connected_gene': 'PIR42034', 'score': 550.77}, {'connected_gene': 'PRR12', 'score': 40.9}, {'connected_gene': 'RCN3', 'score': 12.87}, {'connected_gene': 'FCGRT', 'score': 12.19}, {'connected_gene': 'MIR150', 'score': 12.18}, {'connected_gene': 'RPS11', 'score': 12.17}, {'connected_gene': 'SNORD35B', 'score': 12.17}, {'connected_gene': 'SNORD35A', 'score': 11.95}, {'connected_gene': 'SNORD34', 'score': 11.95}, {'connected_gene': 'SNORD33', 'score': 11.94}, {'connected_gene': 'RPL13A', 'score': 11.94}, {'connected_gene': 'SNORD32A', 'score': 11.94}, {'connected_gene': 'FLT3LG', 'score': 11.75}, {'connected_gene': 'PTH2', 'score': 10.55}, {'connected_gene': 'ALDH16A1', 'score': 6.29}, {'connected_gene': 'GC19P049568', 'score': 0.44}]
chr19 GH19I049552 49552499 49558200 1.2 [{'connected_gene': 'NOSIP', 'score': 28.5}, {'connected_gene': 'PRR12', 'score': 28.23}, {'connected_gene': 'FCGRT', 'score': 19.32}, {'connected_gene': 'RCN3', 'score': 12.89}, {'connected_gene': 'PRRG2', 'score': 12.21}, {'connected_gene': 'MIR150', 'score': 12.11}, {'connected_gene': 'RPS11', 'score': 12.1}, {'connected_gene': 'SNORD35B', 'score': 12.1}, {'connected_gene': 'SNORD33', 'score': 11.96}, {'connected_gene': 'SNORD35A', 'score': 11.96}, {'connected_gene': 'SNORD34', 'score': 11.96}, {'connected_gene': 'RPL13A', 'score': 11.95}, {'connected_gene': 'SNORD32A', 'score': 11.95}, {'connected_gene': 'PTH2', 'score': 10.56}, {'connected_gene': 'PIR42034', 'score': 0.77}, {'connected_gene': 'GC19M049536', 'score': 0.34}]
chr19 GH19I049325 49325853 49332223 1.55 [{'connected_gene': 'CCDC155', 'score': 31.21}, {'connected_gene': 'PTOV1-AS2', 'score': 10.88}, {'connected_gene': 'CYTH2', 'score': 10.34}, {'connected_gene': 'PRR12', 'score': 9.99}, {'connected_gene': 'SNRNP70', 'score': 9.95}, {'connected_gene': 'TMEM143', 'score': 4.57}, {'connected_gene': 'PTH2', 'score': 1.93}, {'connected_gene': 'SLC6A16', 'score': 0.77}, {'connected_gene': 'ENSG00000197813', 'score': 0.39}, {'connected_gene': 'MIR4324', 'score': 0.34}]
chr19 GH19I049436 49436057 49436804 0.77 [{'connected_gene': 'ALDH16A1', 'score': 5.64}, {'connected_gene': 'PRR12', 'score': 4.8}, {'connected_gene': 'SLC17A7', 'score': 0.44}, {'connected_gene': 'PTH2', 'score': 0.39}]
chr19 GH19I049450 49450459 49455164 2.11 [{'connected_gene': 'ALDH16A1', 'score': 611.9}, {'connected_gene': 'PIH1D1', 'score': 562.41}, {'connected_gene': 'BAX', 'score': 29.3}, {'connected_gene': 'POLD1', 'score': 27.82}, {'connected_gene': 'IRF3', 'score': 26.52}, {'connected_gene': 'SNORD35A', 'score': 25.66}, {'connected_gene': 'SNORD35B', 'score': 25.39}, {'connected_gene': 'NUP62', 'score': 24.81}, {'connected_gene': 'PNKP', 'score': 23.75}, {'connected_gene': 'FLT3LG', 'score': 21.69}, {'connected_gene': 'PTOV1-AS2', 'score': 16.96}, {'connected_gene': 'NAPSB', 'score': 12.29}, {'connected_gene': 'RPS11', 'score': 12.2}, {'connected_gene': 'PTH2', 'score': 11.8}, {'connected_gene': 'RPL18', 'score': 11.46}, {'connected_gene': 'SCAF1', 'score': 11.06}, {'connected_gene': 'PRR12', 'score': 10.77}, {'connected_gene': 'RPL13A', 'score': 9.97}, {'connected_gene': 'PTOV1', 'score': 9.89}, {'connected_gene': 'GC19M049443', 'score': 0.44}]
chr19 GH19I049426 49426304 49426493 1.31 [{'connected_gene': 'PTH2', 'score': 550.77}, {'connected_gene': 'GFY', 'score': 550.44}, {'connected_gene': 'SLC17A7', 'score': 0.37}]
chr19 GH19I049425 49423341 49423400 0.61 [{'connected_gene': 'PTH2', 'score': 550.77}, {'connected_gene': 'GFY', 'score': 0.77}]
chr19 GH19I049422 49422824 49422973 0.92 [{'connected_gene': 'GFY', 'score': 550.77}, {'connected_gene': 'BCL2L12', 'score': 13.92}, {'connected_gene': 'PTOV1', 'score': 11.5}, {'connected_gene': 'SCAF1', 'score': 10.94}, {'connected_gene': 'PTH2', 'score': 0.77}]
chr19 GH19I049423 49423024 49423045 0.82 [{'connected_gene': 'GFY', 'score': 550.77}, {'connected_gene': 'BCL2L12', 'score': 13.92}, {'connected_gene': 'PTOV1', 'score': 11.5}, {'connected_gene': 'SCAF1', 'score': 10.94}, {'connected_gene': 'PTH2', 'score': 0.77}]
chr19 GH19I049421 49421544 49421693 0.64 [{'connected_gene': 'GFY', 'score': 550.77}, {'connected_gene': 'PRR12', 'score': 5.04}, {'connected_gene': 'PTH2', 'score': 0.77}]
chr19 GH19I049428 49422484 49422673 0.89 [{'connected_gene': 'GFY', 'score': 550.77}, {'connected_gene': 'PTH2', 'score': 0.77}]

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