Fig. 5: In silico nonsense saturation mutagenesis of the human genome.
From: Genome-scale quantification and prediction of pathogenic stop codon readthrough by small molecules
a, Generation of the comprehensive in silico dataset with all possible nonsense mutations in human coding genes. b, Readthrough predictions along the coding sequence (CDS) of TP53 for each stop codon type. Each panel represents a drug-specific readthrough prediction—DAP (top), clitocine (middle) and SRI (bottom). c, Percentage of variants genome-wide with readthrough over a given threshold (color legend) for each drug separately and when considering all eight drugs together (All_drugs). d, Percentage of the number of variants across all possible variants in the human exome for which each drug is predicted to display the highest readthrough efficiency. e, Cumulative histograms showing the number of variants as a function of readthrough efficiency for the genes DMD (top), PTEN (middle) and TP53 (bottom), stratified by stop codon type as UAA (left), UAG (center) and UGA (right).
