HLA-DMB

Overview

HLA-DMB, along with HLA-DMA, plays a critical role in the proper functioning of HLA class II molecules. These genes are essential for the loading of antigenic peptides onto HLA class II molecules, facilitating the presentation of these peptides to CD4+ T cells. Mutations in this gene were first described in DLBCL by Hübschmann et al.1

Relevance tier by entity

Entity Tier Description
DLBCL 1 High-confidence DLBCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 43 0.0395 [0.0279,0.0511]
DLBCL GAMBL with Reddy 2,088 43 0.0206 [0.0145,0.0267]
DLBCL BC 231 9 0.0390 [0.014,0.0639]
DLBCL Dana-Farber 303 6 0.0198 [0.0041,0.0355]
DLBCL NCI 470 24 0.0511 [0.0312,0.071]
DLBCL Reddy 999 0 0.0001 [0,7e-04]
DLBCL DLBCL_ICGC 85 4 0.0471 [0.002,0.0921]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 0.0000 0.0000 1
FL 39.1286 192.8799 0
DLBCL 4.3468 19.7448 0

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Expression

References

1.
Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491