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 |
|---|---|---|
| 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 |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
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


