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rdmorin edited this page Jun 4, 2024 · 26 revisions

SF3B1

History

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timeline
    title Publication timing
      2012-12-01 : Love : BL
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Relevance tier by entity

Entity Tier Description
BL 2 relevance in BL not firmly established
DLBCL 1 high-confidence DLBCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 3.00
BL Thomas cohort NA
BL Panea cohort NA
DLBCL GAMBL genomes 2.87
DLBCL Schmitz cohort 2.13
DLBCL Reddy cohort 2.00
DLBCL Chapuy cohort 2.99

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 2.277 0.000
DLBCL No No 3.245 7.004
FL No No 2.408 0.000

SF3B1 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr2 198266833 T>G K700T
chr2 198266832 T>G K700N
chr2 198266821 A>C I704S

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

SF3B1 Expression

References

  1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561

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