Fig. 1

Overview of a transcriptomic analysis of 265 bone marrow samples. a Sources of RNA and frequencies of SF mutations. A Venn diagram shows sources of RNA. The pie charts below depict frequencies of SF mutations among 165 cases with BMMNCs and 100 cases with CD34+ cells. b Types of alternative splicing events. Cassette exon means inclusion or skipping of an exon. c An overview of differential splicing analysis. Comparison of splice junction usage between SF-mutated and non-mutated samples was performed for each cell fraction. Alternative splicing events associated with each SF mutation with a q-value of <0.01 were regarded as differentially spliced. Venn diagrams show numbers of alternative splicing events significantly associated with each SF mutation. d Types and numbers of splicing alterations significantly associated with each SF mutation. Bars in the upper half indicate alternative splicing events that were more frequently found in SF-mutated cases. Bars in the lower half are those that were more frequently found in the controls. Types of splicing alterations are color coded as in b