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. 2017 Jun 6;45(14):8524–8540. doi: 10.1093/nar/gkx508

Figure 7.

Figure 7.

LUAD-associated splice site mutations in RBM10 exons 6 and 12 disrupt splicing and correlate with significantly reduced RBM10 RNA expression. (A) Locations of splice site mutations for RBM10 exon 6 and 12 identified in TCGA LUAD patients. Ex: exon; In: intron. (B) RT-PCR analysis of exon 6 and 12 inclusion levels derived from wild type and splice site mutants of minigene reporters RBM10-E6M and -E12M transfected in N2a cells. PCR primers are indicated by black arrows and positions of mutations are marked by red arrowheads in minigene diagrams (upper panel). PSI: percent-spliced-in. n = 2 biological replicates. (C) RBM10 RNA expression levels in four LUAD patients harboring splice site mutations for RBM10 exons 6 or 12 compared to individuals lacking RBM10 mutations or copy number alternation (CNA). Data from TCGA, see Materials and Methods for details. P = 0.0077 (Welch's t-test).