GNA13 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @reichelFlowSortingExome2015, @loveGeneticLandscapeMutations2012, @morinFrequentMutationHistonemodifying2011
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]
Experimental Evidence
Driver mutations affecting this gene in BL/FL/DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@muppidiLossSignalingGa132014; @ohayreInactivatingMutationsGNA132016]
Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
FL
BL
Mutation pattern and selective pressure estimates
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:tables/browser_GNA13.md
Expression
include:tables/mermaid_GNA13.md