SPEN

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2012-08-27 : Rossi : MZL 2017-05-01 : Albuquerque : DLBCL 2017-10-10 : Reddy : DLBCL 2018-04-12 : Schmitz : DLBCL 2018-05-01 : Chapuy : DLBCL 2018-10-01 : Arthur : DLBCL 2021-04-01 : Sarkozy : PMBL 2021-05-05 : Hubschmann : DLBCL

Relevance tier by entity

Entity Tier Description
MZL 1 high-confidence MZL generossiCodingGenomeSplenic2012c?
PMBL 1 high-confidence PMBL/cHL/GZL genesarkozyMutationalLandscapeGray2021a?
DLBCL 1 high-confidence DLBCL gene1,albuquerqueEnhancingKnowledgeDiscovery2017a?,schmitzGeneticsPathogenesisDiffuse2018a?

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 4.78
DLBCL Schmitz cohort 10.00
DLBCL Reddy cohort 7.41
DLBCL Chapuy cohort 9.83

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 1.456 0.000
DLBCL No No 0.900 13.083
FL No No 1.765 25.228

SPEN Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr1 16256846 C>T R1371*
chr1 16261814 C>T R3027*

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

SPEN Expression

References

1.
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;171(2):481–494.e15. PMCID: PMC5659841

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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