TMEM30A - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @zhangGeneticHeterogeneityDiffuse2013, @morinMutationalStructuralAnalysis2013, @morinFrequentMutationHistonemodifying2011,
Experimental Evidence
Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@ennishiTMEM30ALossoffunctionMutations2020]
Relevance tier by entity
include:tables/table1_TMEM30A.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
include:tables/DLBCL_TMEM30A.md
FL
Mutation pattern and selective pressure estimates
include:tables/dnds_TMEM30A.md
TMEM30A Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 75969072 | G>A | R226* |
| chr6 | 75965985 | G>A | R307* |
| chr6 | 75965975 | A>T | M310K |
include:tables/browser_TMEM30A.md
Expression
include:tables/mermaid_TMEM30A.md