GNA13

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bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

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Overview

Mutations in GNA13, which encodes a G protein alpha subunit involved in multiple signaling pathways, have been identified as significant contributors to the pathogenesis of germinal centre-derived B-cell lymphomas, including diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma (BL).[@reichelFlowSortingExome2015] This gene has some recurrent sites of mutations (hot spots). Overall, mutations are often loss-of-function in nature, disrupting the normal activity of GNA13. GNA13 regulates B-cell homing and growth suppression within the germinal center niche and its loss of function promotes lymphoma development.[@loveGeneticLandscapeMutations2012]

Relevance tier by entity

Entity	Tier	Description
	1	high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015]
	1	high-confidence BL gene [@loveGeneticLandscapeMutations2012]
	1	high-confidence DLBCL gene[@morinFrequentMutationHistonemodifying2011]
	1	high-confidence FL gene [@morinFrequentMutationHistonemodifying2011]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

include:DLBCL_GNA13.md include:FL_GNA13.md include:BL_GNA13.md

Mutation pattern and selective pressure estimates

include:dnds_GNA13.md

GNA13 Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr17	63052633	G>A	Q27*
chr17	63052631	C>G	Q27H
chr17	63052630	G>A	Q28*
chr17	63052613	C>G	E33D
chr17	63052609	C>G	D35H

include:browser_GNA13.md

Expression

include:mermaid_GNA13.md

References