Figure 4.

SF3B1 mutation results in altered mRNAs potentially translated into modified proteins. (A) Coding potential of the known and novel isoforms identified divided by CDS similarity to annotated isoforms and NMD prediction. (B) Effect of SF3B1^mut-associated ASEs on the protein-coding potential. (C) SF3B1 isoforms detected in this study with CLL- or MDS-specific isoforms. (D) The PRPF38A isoform expression levels (left) and structure with Pfam domains indicated (right). Highlighted in yellow is the SF3B1^mut-associated 3′AS that may influence the protein function. (E) Schematic of major MAP3K7 isoforms (left) with the protein kinase domain showed as green boxes. The SF3B1^mut-associated 3′AS is highlighted in yellow, and ORF start/end are indicated by arrows. Highlighted in light green are predicted upstream ORFs (uORFs). Red box highlights the additional exon 12 in the isoform 202, which is absent in the isoform 205. Expression of each isoform is shown on the right. The expression of isoforms with 3′AS event is shown as striped bars.