Fig. 1

Splice mutations in DLBCL and their relationship with aSHM. A RCH (R: A or G; H: not G) and TW (W: A or T) motifs within splicing consensus sequences. Splice sequences can be divided into splice sites (positions ± 1 and ± 2) and splice regions (positions ± 3 to ± 8). C: conserved; NC: non-conserved. B Proportion of RCH and TW motifs across the human genome for each splice sequence position. C Recurrent splice site mutations in DLBCL from Andrades et al. [15] and their distance to the nearest TSS. Circle color represents the nucleotide context and size indicates mutation frequency. Grey lines show transcript length, with transcripts exceeding the plot limits represented by arrowed lines. The chosen threshold to classify mutations into proximal (< 3 kb) or distal (> 3 kb) is marked with a red dashed line. 4 out of the 29 genes described by Andrades (FAS, KMT2D, TBL1XR1 and TNFAIP3) have been omitted for visualization purposes as their splice site mutations far exceed the 4 kb plot limit. The heatmap shows the association of each gene to AID mutagenesis. > 50% RCH/TW splicing mutations, the splice site mutations are mostly in RCH or TW contexts; AID target, the gene has been reported as an AID target by Schmitz et al. [1], Alkodsi et al. [4] or Álvarez-Prado et al. [16]. D Proportion of proximal RCH and TW intronic mis-splicing mutations (in positions ± 1 to ± 8) per cancer type described by Jung et al. [12]. Sample sizes are indicated in parentheses, number of mis-splicing mutations with each sequence motif are indicated in the bars. CNS: central nervous system