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