Figure 2.
Summary of RNA aberrations identified in splice site mutant genes. For each type of aberration, the top 6 most affected genes are shown. In addition, 1 illustrative example is represented schematically. Brown arrows mark the most recurrently mutated splice site in the gene. Exon numbering was based on the following transcripts from Ensembl v28: ENST00000006750.7 (CD79B), ENST00000396373.8 (ETV6), ENST00000261822.4 (BCL7A), ENST00000313708.10 (EBF1), ENST00000355740.6 (FAS, splice option 1), and ENST00000355279.2 (FAS, splice option 2). In FAS, splice site mutant samples have decreased use of “splice option 1” and increased use of “splice option 2.” Our analysis estimates the differential use of each splice junction and not the expression of whole transcripts.

Summary of RNA aberrations identified in splice site mutant genes. For each type of aberration, the top 6 most affected genes are shown. In addition, 1 illustrative example is represented schematically. Brown arrows mark the most recurrently mutated splice site in the gene. Exon numbering was based on the following transcripts from Ensembl v28: ENST00000006750.7 (CD79B), ENST00000396373.8 (ETV6), ENST00000261822.4 (BCL7A), ENST00000313708.10 (EBF1), ENST00000355740.6 (FAS, splice option 1), and ENST00000355279.2 (FAS, splice option 2). In FAS, splice site mutant samples have decreased use of “splice option 1” and increased use of “splice option 2.” Our analysis estimates the differential use of each splice junction and not the expression of whole transcripts.

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