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

Entity Tier Description
DLBCL 1 High-confidence DLBCL gene
FL 1 High-confidence FL gene
MZL 1 High-confidence MZL gene
PMBL 1 High-confidence PMBL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

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]

FL

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

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2009-05-11 : Schmitz : PMBL 2009-06-04 : Compagno : DLBCL 2011-11-03 : Rossi : MZL 2013-01-01 : Zhang : DLBCL 2017-05-01 : Albuquerque : DLBCL 2017-10-10 : Reddy : DLBCL

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

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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