Table 1.

Most involved genes in progression of uveal melanoma: genotype–phenotype correlations and biochemical actions.

Gene	Name	Genetic Alterations	Phenotype	Action
GNAQ/11	G protein subunits alpha q/11	gene mutation	first genetic changes in uveal melanoma development [30]	activation of the enzyme protein kinase C and transmission of signals to the mitogen-activated protein kinase pathway
BAP1	BRCA1-associated protein 1	gene mutation; 8p gain; monosomy 3; 1p/8q gains	severe prognosis; higher metastatic risk [35]	loss-of-function mutations; constituent of the polycomb repressive deubiquitinase complex
PLCβ4	phospholipase C beta 4	gene mutation	first genetic changes in uveal melanoma development [39]	activation of the protein kinase C; activation and calcium release from intracellular reserves
CYSLTR2	cysteinyl-leukotriene receptor 2	gene mutation	first genetic changes in uveal melanoma development [44]	linking to the G-protein-coupled receptor; taking part in primary oncogenic events
SRSF2	serine-and arginine-rich splicing factor 2	gene mutation; 6p and 8q gains; monosomy 3; 1p/8q gains	intermediate prognosis [46]	arrangement of the structure and controlling of alternative splicing in precursor mRNA
SF3B1	splicing factor 3B subunit 1	gene mutation; 6p and 8q gains; monosomy 3; 1p/8q gains,	intermediate prognosis [50]	during pre-mRNA splicing, trigger of the synthesis of canonical spliced transcripts
MAPKAPK5	MAPK-activated protein kinase 5	unclassified mutation	highlight the genetic diversity of the uveal melanoma [56]	controlling gene expression, apoptosis, differentiation, and proliferation
EIF1AX	eukaryotic translation initiation factor 1A X-linked	gene mutation; 6p gain	less aggressive form of uveal melanoma [58]	involved in the protein synthesis; significant role as an oncogenic factor