SF3B1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
SF3B1
<<Warn("The variants reported in this gene in BL failed QC")>>
History
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timeline
title Publication timing
2012-12-01 : Love : BL
2017-10-10 : Reddy : DLBCL
2018-05-01 : Chapuy : DLBCL
Relevance tier by entity
Entity | Tier | Description |
---|---|---|
3 | Retired, Failed QC[@loveGeneticLandscapeMutations2012] | |
1 | high-confidence DLBCL gene [@reddyGeneticFunctionalDrivers2017; @chapuyMolecularSubtypesDiffuse2018b] |
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
Representative Mutations
BL
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