Two of the imputed SNPs showing strong association with SC are located within the exons of C15orf53 (Figure 3). C15orf53 encodes an uncharacterized protein of 179 amino acids with homology to uncharacterized proteins in other species including chimpanzee, gibbon and orangutan. Rs7165988 in exon 1 results in a non-synonymous coding change of valine to leucine at codon 3. This substitution is predicted to be possibly damaging by POLYPHEN41. Rs12916379 is located within the 3′ UTR of C15orf53 and could influence transcript stability. Our preliminary data showed that C15orf53 mRNA expression is detectable in 9 brain regions tested though the expression level is low. The method of this assay is included in the supplementary information.
