JUNB - morinlab/LLMPP GitHub Wiki
JUNB has been reported to be frequently mutated in T-cell/histiocyte-rich large B-cell lymphoma (THRLBCL).1 Mutations have also been reported in DLBCL but the mutation rate in the earliest study2 was likely an over-estimate.3 According to one study, mutations are often enriched at somatic hypermutation hotspot sites, indicating the involvement of aberrant somatic hypermutation in the pathogenesis of these lymphomas.1
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timeline
title Publication timing
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2021-05-05 : Hubschmann : DLBCL
2019-09-05 : Mottok : PMBL
Entity | Tier | Description |
---|---|---|
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2 | relevance in PMBL/cHL/GZL not firmly established[@mottokIntegrativeGenomicAnalysis2019b] |
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1 | high-confidence DLBCL gene[@reddyGeneticFunctionalDrivers2017; @hubschmannMutationalMechanismsShaping2021b] |
Entity | source | frequency (%) |
---|---|---|
DLBCL | GAMBL genomes | 3.25 |
DLBCL | Schmitz cohort | 3.19 |
DLBCL | Reddy cohort | 3.50 |
DLBCL | Chapuy cohort | 2.14 |
Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
---|---|---|---|---|
BL | No | No | 1.009 | 0.00 |
DLBCL | No | No | 1.285 | 8.88 |
FL | No | No | 0.000 | 0.00 |
Warning
Mutations in this gene were reported to be inflated in the original results according to Dreval K
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
- Schuhmacher, B., Bein, J., Rausch, T., Beneš, V., Tousseyn, T., Vornanen, M., Ponzoni, M., Thurner, L., Gascoyne, R., Steidl, C., Küppers, R., Hansmann, M., & Hartmann, S. (2018). JUNB, DUSP2, SGK1, SOCS1 and CREBBP are frequently mutated in T-cell/histiocyte-rich large B-cell lymphoma. Haematologica, 104, 330 - 337. https://doi.org/10.3324/haematol.2018.203224.
- 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 5;171(2):481-494.e15. doi: 10.1016/j.cell.2017.09.027. PMID: 28985567; PMCID: PMC5659841.
- Revisiting Reddy: A DLBCL Do-over Kostiantyn Dreval, Manuela Cruz, Christopher Rushton, Nina Liuta, Houman Layegh Mirhosseini, Callum Brown, Ryan D. Morin, the GAMBL consortium bioRxiv 2023.11.21.567983; doi: https://doi.org/10.1101/2023.11.21.567983