SF3B1 - morinlab/LLMPP GitHub Wiki

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @chapuyMolecularSubtypesDiffuse2018, @loveGeneticLandscapeMutations2012, @reddyGeneticFunctionalDrivers2017,

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a new function (NEO).[@cazzolaBiologicClinicalSignificance2013]

Relevance tier by entity

include:tables/table1_SF3B1.md

Warnings

<<Warn("The variants reported in this gene in BL failed QC")>>

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_SF3B1.md

BL

include:tables/BL_SF3B1.md

Mutation pattern and selective pressure estimates

include:tables/dnds_SF3B1.md

SF3B1 Hotspots

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

include:tables/browser_SF3B1.md

Expression

Representative Mutations

BL

Rating ★ ★ ★ ★ ☆

include:tables/mermaid_SF3B1.md