Table of Contents
Experimental Evidence
Driver mutations affecting this gene in FL/DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).1
Relevance tier by entity
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Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 133 | 0.1221 | [0.1027,0.1416] |
| DLBCL | GAMBL with Reddy | 2,088 | 214 | 0.1025 | [0.0895,0.1155] |
| DLBCL | BC | 231 | 15 | 0.0649 | [0.0332,0.0967] |
| DLBCL | Dana-Farber | 303 | 32 | 0.1056 | [0.071,0.1402] |
| DLBCL | NCI | 470 | 78 | 0.1660 | [0.1323,0.1996] |
| DLBCL | Reddy | 999 | 81 | 0.0811 | [0.0642,0.098] |
| DLBCL | DLBCL_ICGC | 85 | 8 | 0.0941 | [0.032,0.1562] |
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| FL | GAMBL without Crouch | 642 | 27 | 0.0421 | [0.0265,0.0576] |
| FL | GAMBL with Crouch | 1,189 | 54 | 0.0454 | [0.0336,0.0573] |
| FL | BC | 379 | 19 | 0.0501 | [0.0282,0.0721] |
| FL | Kalmbach | 164 | 7 | 0.0427 | [0.0117,0.0736] |
| FL | Crouch | 547 | 27 | 0.0494 | [0.0312,0.0675] |
| FL | FL_ICGC | 99 | 1 | 0.0101 | [0,0.0298] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 2.2972 | 11.0025 | 1 |
| FL | 1.9404 | 64.5228 | 0 |
| DLBCL | 1.0337 | 32.6654 | 0 |
TNFAIP3 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 138197303 | G>A | E269K |
| chr6 | 138198218 | C>T | R271* |
| chr6 | 138198246 | G>A | R280Q |
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Expression
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References
1.
Compagno M, Lim WK, Grunn A, Nandula SV,
Brahmachary M, Shen Q, Bertoni F, Ponzoni M, Scandurra M, Califano A,
Bhagat G, Chadburn A, Dalla-Favera R, Pasqualucci L. Mutations of
multiple genes cause deregulation of NF-kappaB in diffuse large B-cell lymphoma. Nature. 2009 Jun
4;459(7247):717–721. PMCID: PMC2973325
2.
Rossi D, Deaglio S, Dominguez-Sola D, Rasi S,
Vaisitti T, Agostinelli C, Spina V, Bruscaggin A, Monti S, Cerri M,
Cresta S, Fangazio M, Arcaini L, Lucioni M, Marasca R, Thieblemont C,
Capello D, Facchetti F, Kwee I, Pileri SA, Foà R, Bertoni F,
Dalla-Favera R, Pasqualucci L, Gaidano G. Alteration of
BIRC3 and multiple other NF-κB
pathway genes in splenic marginal zone lymphoma. Blood. 2011 Nov
3;118(18):4930–4934.
3.
Schmitz R, Hansmann ML, Bohle V, Martin-Subero
JI, Hartmann S, Mechtersheimer G, Klapper W, Vater I, Giefing M, Gesk S,
Stanelle J, Siebert R, Küppers R. TNFAIP3
(A20) is a tumor suppressor gene in Hodgkin
lymphoma and primary mediastinal B cell lymphoma. J Exp
Med. 2009 May 11;206(5):981–989. PMCID: PMC2715030


