Fig. 1

EYA2 mutations in HCC. (A) Somatic mutations identified in EYA2 gene, which were confirmed by IGV visualization and Sanger sequencing of DNA samples from HCC and case-matched adjacent tissues. The black arrows indicate the somatic mutation sites. (B) Prediction of the functional effects of R255K and A510E substitutions (R, Arg; K, Lys; A, Ala; E, Glu). (C) Multiple sequence alignments of EYA2 paralogs from different species. The mutation sites in EYA2 are indicated by black arrows. (D) Genomic organization of EYA2 exon regions and protein domain structure. The EYA2 somatic mutations in HCC are indicated by red and black arrows which represent our research findings and COSMIC database, respectively. The asterisk represents nonsense mutation. (E) Somatic mutation frequency of EYA2 in liver cancer in the population of different countries obtained from the ICGC database