POU2AF1

Overview

POU2AF1 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2017-01-26 : Krysiak : FL 2018-05-01 : Chapuy : DLBCL

Relevance tier by entity

Entity Tier Description
MZL 1 high-confidence MZL gene
DLBCL 1 high-confidence DLBCL gene, hypermutated1
FL 1 high-confidence FL gene, hypermutated2

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 5.16
DLBCL Schmitz cohort 2.34
DLBCL Reddy cohort 3.30
DLBCL Chapuy cohort 5.56
FL GAMBL genomes 12.24

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 0.000 0.000
DLBCL Yes No 6.798 74.689
FL Yes Yes 0.000 659.924

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr11 111248078 111250224 TSS active_promoter

POU2AF1 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr11 111249894 C>T W3*
chr11 111249899 G>A L2F
chr11 111249900 C>T M1?
chr11 111275352 T>C R6G

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

POU2AF1 Expression

References

1.
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
2.
Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390

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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