Fig. 4

Mutation spectrum of metabolic genes in MB. Metabolic genes from ccmGDB were analysed for nDNA aberrations, and 374 variants in 62 genes were detected. A Mutation type of all variants detected is shown. SNVs have been further classified as nonsynonymous, splicing and stopgain mutations. B and C show the top 20 mutated genes, including the number of samples in which every depicted gene was mutated. B refers to the mutation type, and C to the MB group affiliation of the mutated samples. D GO analysis of all mutated genes using ToppGene Suite (https://toppgene.cchmc.org/). The number of DEGs found for each GO term is shown in brackets. SNV = single nucleotide variant; INDEL = insertions and deletions