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Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues

Figure 4

ASE analysis of rare deleterious nsSNPs and nonsense variants by mmPCR-Seq.

(A) ASE analysis of nonsense variants (red), rare deleterious nsSNPs (blue), and control sites (green) tested by mmPCR-Seq in different tissues. The control sites are random heterozygous sites in the individual's genome. Rare, deleterious nsSNPs and nonsense alleles have significantly reduced expression compared to controls. This observation is most significant for loss-of-function variants where the nonsense allele is likely removed through nonsense-mediated decay (student's t-test, p<0.05, see Table S5). (B) ASE analysis of rare (red) and common (pink) nonsense variants tested by mmPCR-Seq data across different tissues. Common nonsense variants are defined as those with a minor allele frequency greater than 5% across the 1000 Genomes population data. Rare nonsense alleles show significantly reduced expression compared to common nonsense alleles (student's t-test, p<0.05).

Figure 4