GNAI2
Mutations in the GNAI2 gene, which encodes the G protein alpha subunit involved in signal transduction, have been identified as significant contributors to the pathogenesis of B-cell lymphomas, including BL, DLBCL and, to a lesser extent, FL.1 Mutations in GNAI2, along with GNA13 and other small GTPases, affect the signaling pathways that regulate B-cell homing. These mutations are thought to cause aberrant localization and function of B-cells within lymphoid tissues.1 The functional role of these mutations has not been studied as extensively as those in GNA13 and further work is needed to elucidate the specific role of these mutations in lymphomagenesis.
| 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 | 11.32 |
| BL | Thomas cohort | 9.70 |
| BL | Panea cohort | 8.90 |
| DLBCL | GAMBL genomes | 5.35 |
| DLBCL | Schmitz cohort | 6.38 |
| DLBCL | Reddy cohort | 1.90 |
| DLBCL | Chapuy cohort | 3.85 |
| FL | GAMBL genomes | 4.16 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | Yes | 18.304 | 0.000 |
| DLBCL | No | Yes | 32.161 | 57.623 |
| FL | No | Yes | 55.205 | 0.000 |
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr3 | 50289532 | G>A | G40D |
| chr3 | 50289546 | G>T | G45W |
| chr3 | 50289547 | G>A | G45E |
| chr3 | 50289553 | G>A | S47N |
| chr3 | 50289554 | C>G | S47R |
| chr3 | 50289555 | A>C | T48P |
| chr3 | 50289568 | A>G | Q52R |
| chr3 | 50293686 | T>G | L176R |
| chr3 | 50293695 | G>A | R179H |
| chr3 | 50293698 | T>A | V180E |
| chr3 | 50293703 | A>G | T182A |
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.
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