GNA13
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
| Entity | Tier | Description |
|---|---|---|
| BL | 1 | high-confidence BL gene |
| DLBCL | 1 | high-confidence DLBCL gene |
| FL | 1 | high-confidence FL gene |
| 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 |
Note
First described in BL in 2012 by Love C. First described in DLBCL in 2011 by Morin RD. First described in FL in 2011 by Morin RD
| 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
- Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256-65. doi: 10.1182/blood-2013-02-483727. Epub 2013 May 22. PMID: 23699601; PMCID: PMC3744992.
- Muppidi JR, Schmitz R, Green JA, Xiao W, Larsen AB, Braun SE, An J, Xu Y, Rosenwald A, Ott G, Gascoyne RD, Rimsza LM, Campo E, Jaffe ES, Delabie J, Smeland EB, Braziel RM, Tubbs RR, Cook JR, Weisenburger DD, Chan WC, Vaidehi N, Staudt LM, Cyster JG. Loss of signalling via Gα13 in germinal centre B-cell-derived lymphoma. Nature. 2014 Dec 11;516(7530):254-8. doi: 10.1038/nature13765. Epub 2014 Sep 28. PMID: 25274307; PMCID: PMC4267955.
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