JAK1
History
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene |
 |
2 | relevance in DLBCL not firmly established |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 2.49 |
| DLBCL | Schmitz cohort | 1.91 |
| DLBCL | Reddy cohort | 2.20 |
| DLBCL | Chapuy cohort | 2.14 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.067 | 0 |
| DLBCL | No | No | 4.294 | 0 |
| FL | No | No | 0.000 | 0 |
[!NOTE] First described in DLBCL in 2013 by Zhang J
## JAK1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr1 | 65301158 | C>A | G1097V |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## JAK1
Expression 
## References 1.
Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA,
Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS,
Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI,
Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL,
Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson
D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. 2013
Jan; 2. Mottok A, Hung SS, Chavez EA, Woolcock B, Telenius A, Chong LC,
Meissner B, Nakamura H, Rushton C, Viganò E, Sarkozy C, Gascoyne RD,
Connors JM, Ben-Neriah S, Mungall A, Marra MA, Siebert R, Scott DW,
Savage KJ, Steidl C. Integrative genomic analysis identifies key
pathogenic mechanisms in primary mediastinal large B-cell lymphoma.
Blood. 2019 Sep 5;134(10):802–813. PMID: 31292115
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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