NOTCH2

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2008-07-01 : Troen : DLBCL 2012-08-27 : Rossi : MZL 2013-11-05 : Bea : MCL

Relevance tier by entity

Entity Tier Description
MZL 1 high-confidence MZL generossiCodingGenomeSplenic2012c?
DLBCL 1 high-confidence DLBCL gene1
MCL 1 high-confidence MCL gene2

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 5.74
DLBCL Schmitz cohort 11.28
DLBCL Reddy cohort 3.70
DLBCL Chapuy cohort 7.26
MCL GAMBL genomes 2.84

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 0.000 0.000
DLBCL No Yes 0.527 60.245
FL No No 0.000 0.000

NOTCH2 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr1 120458147 G>A R2400*

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

NOTCH2 Expression

References

1.
Trøen G, Wlodarska I, Warsame A, Hernández Llodrà S, De Wolf-Peeters C, Delabie J. NOTCH2 mutations in marginal zone lymphoma. Haematologica. 2008 Jul;93(7):1107–1109.
2.
Beà S, Valdés-Mas R, Navarro A, Salaverria I, Martín-Garcia D, Jares P, Giné E, Pinyol M, Royo C, Nadeu F, Conde L, Juan M, Clot G, Vizán P, Croce LD, Puente DA, López-Guerra M, Moros A, Roue G, Aymerich M, Villamor N, Colomo L, Martínez A, Valera A, Martín-Subero JI, Amador V, Hernández L, Rozman M, Enjuanes A, Forcada P, Muntañola A, Hartmann EM, Calasanz MJ, Rosenwald A, Ott G, Hernández-Rivas JM, Klapper W, Siebert R, Wiestner A, Wilson WH, Colomer D, López-Guillermo A, López-Otín C, Puente XS, Campo E. Landscape of somatic mutations and clonal evolution in mantle cell lymphoma. PNAS. 2013;110(45):18250–18255.

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.

Disclaimer

The content in these pages has been populated, in part, by an automated process. Although we have scrutinized every page to ensure accuracy, errors will inevitably exist. If you find an error please report it as an issue and we will address it.

License

This work is licensed under a Creative Commons Attribution 4.0 International License.

You are free to:

Share — copy and redistribute the material in any medium or format for any purpose, even commercially.

Adapt — remix, transform, and build upon the material for any purpose, even commercially. The licensor cannot revoke these freedoms as long as you follow the license terms.