SETD1B - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @reddyGeneticFunctionalDrivers2017, @albuquerqueEnhancingKnowledgeDiscovery2017, @schmitzGeneticsPathogenesisDiffuse2018,
Experimental Evidence
Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).
Relevance tier by entity
include:tables/table1_SETD1B.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
include:tables/DLBCL_SETD1B.md
Mutation pattern and selective pressure estimates
SETD1B Hotspots
Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
---|---|---|---|
chr12 | 122242755 | C>A | P38T |
chr12 | 122243045 | G>A | E66K |
chr12 | 122243058 | A>G | D70G |
chr12 | 122243060 | C>T | P71S |
chr12 | 122265950 | G>A | A1858T |
chr12 | 122265953 | C>T | R1859C |
include:tables/browser_SETD1B.md
Expression
All Mutations
Reddy_2079T Reddy_2101T Reddy_2103T Reddy_2120T Reddy_2145T Reddy_2146T Reddy_2152T Reddy_2159T Reddy_2203T Reddy_2259T Reddy_2270T Reddy_2461T Reddy_2479T Reddy_2488T Reddy_2522T Reddy_2550T Reddy_2554T Reddy_2613T Reddy_2634T Reddy_2684T Reddy_2698T Reddy_2707T Reddy_2788T Reddy_2790T Reddy_2792T Reddy_2830T Reddy_2834T Reddy_2840T Reddy_2871T Reddy_2921T Reddy_2922T Reddy_2931T Reddy_2933T Reddy_2955T Reddy_3385T Reddy_3423T Reddy_3455T Reddy_3461T Reddy_3462T Reddy_3529T Reddy_3532T Reddy_3545T Reddy_3582T Reddy_3607T Reddy_3609T Reddy_3610T Reddy_3613T Reddy_3620T Reddy_3627T Reddy_3631T Reddy_3647T Reddy_3665T Reddy_3675T Reddy_3682T Reddy_3701T Reddy_3716T Reddy_3724T Reddy_3732T Reddy_3740T Reddy_3742T Reddy_3756T Reddy_3781T Reddy_3837T Reddy_3852T Reddy_3867T Reddy_3893T Reddy_3905T Reddy_3916T Reddy_3930T Reddy_3932T Reddy_3980T Reddy_3990T Reddy_3998T Reddy_790T
include:tables/mermaid_SETD1B.md