GNA13 - morinlab/LLMPP GitHub Wiki
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).1 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.2
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timeline
title Publication timing
2011-07-27 : Morin : FL
2012-12-01 : Love : BL
2015-02-12 : Reichel : PMBL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015a] |
 |
1 | high-confidence BL gene [@loveGeneticLandscapeMutations2012] |
 |
1 | high-confidence DLBCL gene[@morinFrequentMutationHistonemodifying2011] |
 |
1 | high-confidence FL gene [@morinFrequentMutationHistonemodifying2011] |
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 21.02 |
| BL | Thomas cohort | 21.60 |
| BL | Panea cohort | 20.80 |
| DLBCL | GAMBL genomes | 11.66 |
| DLBCL | Schmitz cohort | 8.51 |
| DLBCL | Reddy cohort | 11.91 |
| DLBCL | Chapuy cohort | 10.26 |
| FL | GAMBL genomes | 10.16 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | Yes | 51.517 | 966.741 |
| DLBCL | No | Yes | 38.484 | 284.077 |
| FL | No | Yes | 48.688 | 215.216 |
| 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 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
