Skip to main content
. 2019 Feb;29(2):159–170. doi: 10.1101/gr.238444.118

Figure 1.

Figure 1.

Signals of purifying selection around splice sites. (A) Selective constraint across splicing region in 13,750 unaffected parents of DDD probands and more than 60,000 aggregated exomes from ExAC. Mutability-adjusted proportion of singletons (MAPS) with 95% confidence intervals (CIs) shown for Ensembl's Variant Effect Predictor (VEP) annotated exonic sites, extended splice acceptor and splice donor regions, the last base of the exon, split by reference nucleotide, and grouped sites in the polypyrimidine tract (PolyPy) region, split by changes from a pyrimidine to a purine (PyPu) versus all other changes. (B) Proportion of variants with 95% CI in 13,750 unaffected parents of DDD probands that fall within genes with high probability of loss-of-function intolerance (pLI > 0.9) across VEP annotated exonic sites, extended splice acceptor and splice donor regions, the last base of the exon, split by reference nucleotide, and grouped sites in the PolyPy region, split by changes from a pyrimidine to a purine (PyPu) versus all other changes. Lower panel shows splice acceptor and splice donor consensus sequences, based on our exons of interest.