Figure 4.
Synonymous variants may affect splicing and miRNA-binding sites within ADAMTS13. (A) ADAMTS13 sSNVs that were predicted to affect splice sites across ADAMTS13 exons and encoded protein domains. Exons are colored consistent with the protein domain(s) they encode. sSNVs that were predicted to affect constitutive donors are highlighted in dark pink, and those predicted to affect constitutive acceptors are highlighted in dark blue. Variants predicted to affect cryptic donors are highlighted in light pink, and those predicted to affect cryptic acceptors are highlighted in light blue. Variants predicted to affect special case exon 8 acceptor or exon 25 donor are colored green. USS variants are shown in red. (B) Variants predicted to affect miRNA-binding sites according to Paccmit-CDS, TargetScan, and miRDB. Consistency of splice affects predictions between MES, NNsplice (NN), SpliceSiteFinder-like (SSF), and GeneSplicer (GS) splice prediction tools for constitutive splice sites (C) and for cryptic and special case cryptic splice sites (D). (E) Venn diagram displays numbers of ADAMTS13 sSNVs that affect miRNA-binding sites as predicted by Paccmit-CDS, TargetScan, and miRDB. Acc, acceptor; C, cysteine-rich; Cryp, cryptic; D, disintegrin-like; Don, donor; M, metalloproteinase; P, propeptide; T1-T8, thrombospondin repeats 1-8; S, spacer; CUB (C1r/C1s, urinary epidermal growth factor, bone morphogenetic protein); SP, signal peptide.