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
ENST00000576655 [[49927005, 49927266], [49928709, 49928746], [49929666, 49930870], [49931202, 49931376], [49931875, 49932075]] [[49929687, 49930870], [49931202, 49931376], [49931875, 49932075]]
NM_001195256 [[49929687, 49930870], [49931202, 49931376], [49931875, 49932075]] [[49929687, 49930870], [49931202, 49931376], [49931875, 49932075]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 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 GH19I049420 49420842 49421313 1 [{'connected_gene': 'GFY', 'score': 550.77}, {'connected_gene': 'RRAS', 'score': 3.44}, {'connected_gene': 'AP2A1', 'score': 2.33}, {'connected_gene': 'NOSIP', 'score': 1.88}, {'connected_gene': 'RCN3', 'score': 1.76}, {'connected_gene': 'PRR12', 'score': 1.27}, {'connected_gene': 'TBC1D17', 'score': 1.23}, {'connected_gene': 'LOC105372433', '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}]