Fig. 5
From: Whole-exome sequencing reveals the etiology of the rare primary hepatic mucoepidermoid carcinoma
Public data analysis and significant somatic mutation in the proband. (Mutation diagram circles are colored with respect to the corresponding mutation types. In the case of different mutation types at a single position, the color of the circle reflects the most frequent mutation type). A. Venn diagram: six SNVs (in STAT1, TGFBR1, NOTCH1, KMT2C, ELF3 and GNAS genes) in the HMEC overlapped with primary liver tumors (HCC and CHL). Only a SNV in the CHD3 gene in HMEC overlapped with SMEC. B. Somatic GNAS gene mutation occurred in 2.1% (9/445) patients with primary hepatobiliary tumors in public databases. C. Three patients showed GNAS (p.R201H/C) missense mutation (putative driver). Samples (ID W012,T026) were O.pisthorchis viverrini-associated with cholangiocarcinoma (SRP007970)(pentagonal shape). D. Somatic mutations in the proband by Sanger sequencing: a. missense variant in GNAS (chr20.exon8:c.G602A:p.R201H), b. frameshift indel variant in ELF3 (chr1,exon4:c.909dupC:p.F303fs), and c. nonsense variant in KMT2C (chr7,exon4:c.C1519T:p.Q507X) in tumor tissue