SF3B1

The variants reported in this gene failed QC

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2012-12-01 : Love : BL

Relevance tier by entity

Entity Tier Description
BL 2-F Failed QC1
DLBCL 1 high-confidence DLBCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 3.00
BL Thomas cohort NA
BL Panea cohort NA
DLBCL GAMBL genomes 2.87
DLBCL Schmitz cohort 2.13
DLBCL Reddy cohort 2.00
DLBCL Chapuy cohort 2.99

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 2.277 0.000
DLBCL No No 3.245 7.004
FL No No 2.408 0.000

SF3B1 Hotspots

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

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

SF3B1 Expression

Representative Mutations

BL

Rating ★ ★ ★ ★ ☆

References

1.
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

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.

Disclaimer

The content in these pages has been populated, in part, by an automated process. Although we have scrutinized every page to ensure accuracy, errors will inevitably exist. If you find an error please report it as an issue and we will address it.

License

This work is licensed under a Creative Commons Attribution 4.0 International License.

You are free to:

Share — copy and redistribute the material in any medium or format for any purpose, even commercially.

Adapt — remix, transform, and build upon the material for any purpose, even commercially. The licensor cannot revoke these freedoms as long as you follow the license terms.