U2AF1 mutations affect genes involved in disease-relevant cellular processes. (A) Overlap between mutation-dependent differential splicing in AML S34F/Y patients, K562 S34F/Y cells, and K562 Q157P/R cells. Overlap taken at the level of specific events (left) or genes containing differentially spliced events (right). (Percentages) The fraction of differentially spliced events (left) or genes containing differentially spliced events (right) in S34F/Y AML transcriptomes that are similarly differentially spliced in K562 cells expressing S34F/Y or Q157P/R U2AF1. (B) DNMT3B gene structure and protein domains (The UniProt Consortium 2012). Upstream 5′ UTR not shown. (PWWP) Pro-Trp-Trp-Pro domain; (ADD) ATRX-DNMT3-DNMT3L domain; (red stop sign) stop codon. (C,D) Inclusion of DNMT3B cassette exons. (Error bars) 95% confidence intervals as estimated from read coverage levels by MISO (Katz et al. 2010). (E) Inclusion of H2AFY cassette exon. (F) Cassette exon at 3′ end of ATR. Conservation is phastCons (Siepel et al. 2005) track from UCSC (Meyer et al. 2013). (G) Inclusion of cassette exon in ATR. (H) Usage of intron-proximal 3′ splice site of CASP8. (I) Inclusion of cassette exon in FANCA.
