Table of Contents

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a new function (NEO).1

Relevance tier by entity

Entity Tier Description
BL 3 Mutations are unlikely to be relevant to BL
DLBCL 1 High-confidence DLBCL gene

Warnings

The variants reported in this gene in BL failed QC

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 25 0.0230 [0.0141,0.0319]
DLBCL GAMBL with Reddy 2,088 45 0.0216 [0.0153,0.0278]
DLBCL BC 231 3 0.0130 [0,0.0276]
DLBCL Dana-Farber 303 10 0.0330 [0.0129,0.0531]
DLBCL NCI 470 10 0.0213 [0.0082,0.0343]
DLBCL Reddy 999 20 0.0200 [0.0113,0.0287]
DLBCL DLBCL_ICGC 85 2 0.0235 [0,0.0558]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 9 0.0284 [0.0099,0.0469]
BL GAMBL without ICGC/Zhou 320 11 0.0340 [0.0142,0.0539]
BL GAMBL with Panea 410 13 0.0305 [0.0139,0.0472]
BL BLGSP 219 7 0.0320 [0.0087,0.0553]
BL Zhou/ICGC 90 2 0.0222 [0,0.0527]
BL Panea 101 4 0.0396 [0.0016,0.0776]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 2.5596 0.0000 1.0000
FL 0.4356 0.0000 1.0000
DLBCL 1.1060 0.4401 0.9986

SF3B1 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr2 198266833 T>G K700T
chr2 198266832 T>G K700N
chr2 198266821 A>C I704S
Structure with HotMAPS hotspots

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

Representative Mutations

BL

Rating ★ ★ ★ ★ ☆

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2012-12-01 : Love : BL 2017-10-10 : Reddy : DLBCL 2018-05-01 : Chapuy : DLBCL

References

1.
Cazzola M, Rossi M, Malcovati L, Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative. Biologic and clinical significance of somatic mutations of SF3B1 in myeloid and lymphoid neoplasms. Blood. 2013 Jan 10;121(2):260–269. PMCID: PMC3790951
2.
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
3.
Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561
4.
Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481–494.e15. PMCID: PMC5659841

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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