Table 2.
Functional Predictions of 13 PERLD1 Common SNPs Found in Singapore Chinese Population.
| SNP rsID | Location | Variation | MAF | Predicted functionality |
|---|---|---|---|---|
| rs2517953 | Intron 2 | C > G | 0.375 | ESE (SRp55, SC35) |
| rs1565922 | Intron 3 | T > C | 0.400 | ESE (SC35, SF2/ASF, SRp55), ESS |
| rs2941504 | Exon 4 | T > C | 0.400 | Synonymous, ESE (9G8, Tra2-β) |
| rs2934956 | Intron 4 | A > T | 0.412 | ESE (9G8, Tra2-β, SC35, SF2/ASF, SRp40) |
| rs903502 | Intron 6 | G > A | 0.388 | ESE (9G8, SF2/ASF), ESS |
| rs903503 | Intron 6 | G > T | 0.400 | ESS |
| rs903504 | Intron 6 | G > C | 0.400 | ESS |
| rs2247862 | Intron 7 | T > C | 0.400 | ESE (SRp55, SF2/ASF), ESS |
| rs4344777 | 3′-utr | G > A | 0.400 | — |
| rs907087 | 3′-utr | T > C | 0.388 | — |
| rs2941503 | 3′-utr | A > G | 0.400 | — |
| rs2952151 | 3′-utr | G > A | 0.400 | — |
| rs62678161 | intergenic | T > C | 0.400 | — |
*Predictions of splice regulation by exonic or intronic SNPs were done using Human Splicing Finder. The proposed Exonic Splicing Enhancer (ESE) or Exonic Splicing Silencer (ESS) was shown, with respective splice regulator proteins listed out in brackets. MiRBase was used for miRNA binding predictions for SNPs within 3′-UTR region. MAF: minor allele frequency.