Table of Contents

Experimental Evidence

Driver mutations affecting this gene in 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)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 52 0.0478 [0.0351,0.0604]
DLBCL GAMBL with Reddy 2,088 83 0.0398 [0.0314,0.0481]
DLBCL BC 231 7 0.0303 [0.0082,0.0524]
DLBCL Dana-Farber 303 13 0.0429 [0.0201,0.0657]
DLBCL NCI 470 28 0.0596 [0.0382,0.081]
DLBCL Reddy 999 31 0.0310 [0.0203,0.0418]
DLBCL DLBCL_ICGC 85 4 0.0471 [0.002,0.0921]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 7 0.0109 [0.0029,0.0189]
FL GAMBL with Crouch 1,189 7 0.0059 [0.0015,0.0102]
FL BC 379 2 0.0053 [0,0.0126]
FL Kalmbach 164 5 0.0305 [0.0042,0.0568]
FL Crouch 547 0 0.0002 [0,0.0013]
FL FL_ICGC 99 0 0.0010 [0,0.0073]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 0.0000 0.0000 1
FL 4.8193 0.0000 1
DLBCL 1.8182 12.7363 0

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Expression

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2018-05-01 : Chapuy : DLBCL 2018-10-01 : Arthur : DLBCL

References

1.
Skalniak L, Mizgalska D, Zarebski A, Wyrzykowska P, Koj A, Jura J. Regulatory feedback loop between NF-kappaB and MCP-1-induced protein 1 RNase. FEBS J. 2009 Oct;276(20):5892–5905.
2.
Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L, Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR, Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C, Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001. PMCID: PMC6167379
3.
Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M, Staiger AM, Wala JA, Ducar MD, Leshchiner I, Rheinbay E, Taylor-Weiner A, Coughlin CA, Hess JM, Pedamallu CS, Livitz D, Rosebrock D, Rosenberg M, Tracy AA, Horn H, van Hummelen P, Feldman AL, Link BK, Novak AJ, Cerhan JR, Habermann TM, Siebert R, Rosenwald A, Thorner AR, Meyerson ML, Golub TR, Beroukhim R, Wulf GG, Ott G, Rodig SJ, Monti S, Neuberg DS, Loeffler M, Pfreundschuh M, Trümper L, Getz G, Shipp MA. Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat Med. 2018 May;24(5):679–690. PMCID: PMC6613387

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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