Development of a whole-exome sequencing kit to facilitate porcine biomedical research

Table 7 High impact mutations in cancer driver genes in the Oncopig hepatocellular carcinoma model

Gene	Mutated amino acid	Number of amino acids in gene	VAF in Oncopig HCC cell line	VAF in Oncopig HCC tumor	Pathways relevant to HCC enriched for variants
CASP8	p.Glu89*	486	N/A	0.036	Molecular mechanisms of cancer MYC mediated apoptosis signaling
EZR	p.Gln322*	562	N/A	0.034	Actin cytoskeleton signaling
MAP3K1	p.Glu865*	1508	N/A	0.029	Regulation of the epithelial mesenchymal transition by growth factors Integrin signaling EGF signaling PDGF signaling
UBR5	p.Gly1240*	2705	N/A	0.036 0.010	N/A
PRPF40B	p.Ser244*	980	N/A	0.016 0.010	Spliceosomal cycle
BCL9	p.Arg667*	1426	0.010	0.047	Regulation of the epithelial-mesenchymal transition WNT/B-catenin signaling
PDGFRA	p.Trp878*	1088	N/A	0.022	Hepatic fibrosis signaling/stellate cell activation PTEN signaling PDGF signaling
SETDB1	p.Glu115*	1332	N/A	0.036	N/A
TCF7L2	p.Cys534fs	669	0.133	0.094 0.026 0.024	Hepatic fibrosis signaling Epithelial adherens junction signaling Regulation of the epithelial-mesenchymal transition WNT/B-catenin signaling
GRM3	p.Gln408*	879	N/A	0.016	N/A

ISSN: 1474-760X