JAK1

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2013-01-01 : Zhang : DLBCL 2019-09-05 : Mottok : PMBL

Relevance tier by entity

Entity Tier Description
PMBL 1 high-confidence PMBL/cHL/GZL genemottokIntegrativeGenomicAnalysis2019b?
DLBCL 2 relevance in DLBCL not firmly established1

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

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. Proceedings of the National Academy of Sciences of the United States of America. 2013;110:1398–1403. PMCID: PMC3557051

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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