Fig. 2: Genomic and transcriptomic features associated with COSMIC Signature 17.

a Mutational spectra of our ACGEJ samples. Different colors represent six SBS categories. On the x-axis, 16 possible trinucleotide contexts are repeated for each SBS category. b Distributions of COSMIC Signatures 1, 3, 5, 8, and 17 activities in 124 ACGEJ genomes. c Box plots comparing Signature 17 activities in ACGEJ samples with and without TP53 mutations (n = 88 and 36, respectively), WGD (n = 74 and 50, respectively), or chromothripsis (n = 77 and 47, respectively); P values derived from two-sided Wilcoxon rank-sum tests. d Spearman’s correlations between Signature 17 activities and TMB or chromosomal (Chr.) arm level CNVs in ACGEJ. e Pathways or gene signatures enriched with genes positively (red bars) or negatively (blue bars) correlated with Signature 17 activities. f Box plots comparing the fractions of ten immune cell types in total cells between 124 pairs of ACGEJ and matched adjacent normal tissue samples. *P < 0.05; **P < 0.01; ***P < 0.001; ns, not significant of two-sided Wilcoxon rank-sum test; macro., macrophage. Box plots show the median (central line), the 25–75% interquartile range (IQR) (box limits), the ±1.5 times IQR (Tukey whiskers), and outliers (b) or all data points (c, f); the lowest and the highest data points indicate minimal and maximal values, respectively.