Fig. 5: Impact of AID mutations on composite mutations. | npj Precision Oncology

Fig. 5: Impact of AID mutations on composite mutations.

From: Pan-cancer landscape of AID-related mutations, composite mutations, and their potential role in the ICI response

Fig. 5

a AID composite mutations in enriched genes by lineage (n = 31,353 samples). Cases with global composite mutations and the expected value based on cohort size and mutational burden (top). Significant enrichment for AID composite mutations in cancer genes per cancer type (FDR-adjusted P-values from a one-sided binomial test for enrichment; bottom, n = 29,461). b Residue versus gene enrichment arising from AID composite mutations (FDR-adjusted from one-sided Fisher’s exact test for residues or one-sided binomial test for genes). c Cumulative sum of the percentage of hotspot mutation utilization by decreasing frequency of population-level hotspot mutations among composite or single mutations (AID or not AID provoked). Two-sided Mann–Whitney U test, fold-change (FC) of max composite to singleton values. Top inset, percentage of hotspots attributable to composite/singleton mutations (Two-sided two-sample Z-test for equal proportions, color indicates comparison for AID or not AID provoked). d Occurrence of PIK3CA AID composite mutations where arcing lines indicate the composite pairs (≥2 tumors, red-bold color for AID enriched residues) and numbers indicate the amino acid position. Residue PIK3CA E726, located between the kinase and PI3KA domains, is highly enriched as an AID composite. Significance values for the composite mutants (FDR-adjusted P-value, one-sided binomial test) are shown at the bottom. Error bars indicate 95% binomial confidence intervals.

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