Fig. 2

Proximal splice mutations are enriched in aSHM motifs in DLBCL. A Proximal splice site and splice region mutations in DLBCL are significantly enriched in AID motifs compared with the motif distribution of all splice sites and regions annotated in the human genome. B Enrichment analysis of proximal RCH and TW mutations in each genomic feature compared with proximal intronic mutations. C Pan-cancer enrichment analysis of splice site mutations at RCH or TW motifs compared with the motif distribution of all splice sites annotated in the reference genome. Color indicates whether AID-related mutational signatures have been found in a cancer type. “Partial” indicates that the AID activity was present in less than 50% of the samples analyzed [21]. FL: follicular lymphoma; CLL: chronic lymphocytic leukemia; CNS: central nervous system; SCC: squamous cell carcinoma. D Enrichment in G/C transition frequency per genomic feature in Ung^−/−Msh2^−/− mice (N = 2) compared with Aicda^−/− mouse (N = 1). C: conserved; NC: non-conserved; CDS: coding sequence; UTR: untranslated region; OR: odds-ratio. In all panels, Fisher’s exact test FDR-corrected p values are shown (ns: non-significant; *: p < 0.05; **: p < 0.01; *** p < 0.001; **** p < 0.0001). E Estimated cancer cell fraction (CCF) distributions of splice site mutations from Chapuy et al. DLBCL cohort [6]. Mutations are divided into four categories regarding their nucleotide context and their distance to the nearest TSS. A variant is considered clonal when its CCF ≥ 0.9 (dashed line), the proportion of clonal and subclonal mutations in each category is showed in the bar plot