--- bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true --- [[_TOC_]] ## Overview ACTB is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas. The function of mutations in ACTB and ACTG1 have not yet been determined.[@witjesPrevalenceCytoplasmicActin2020] ## Relevance tier by entity |Entity|Tier|Description | |:------:|:----:|--------------------------| |![MZL](images/icons/MZL_tier1.png)|1|high-confidence MZL gene| |![PMBL](images/icons/PMBL_tier1.png)|1|high-confidence PMBL/cHL/GZL gene[@wienandGenomicAnalysesFlowsorted2019]| |![DLBCL](images/icons/DLBCL_tier1.png) |1 |high-confidence DLBCL gene, hypermutated[@lohrDiscoveryPrioritizationSomatic2012]| |![FL](images/icons/FL_tier1.png) |1 |high-confidence FL gene, hypermutated | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) [[include:DLBCL_ACTB.md]] [[include:FL_ACTB.md]] ## Mutation pattern and selective pressure estimates [[include:dnds_ACTB.md]] ## aSHM regions |chr_name|hg19_start|hg19_end|region |regulatory_comment| |:--------:|:----------:|:--------:|:-------------------------------------------:|:------------------:| |chr7 |5568297 |5570856 |[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr7%3A5568297%2D5570856)|active_promoter | ## ACTB Hotspots | Chromosome |Coordinate (hg19) | ref>alt | HGVSp | | :---:| :---: | :--: | :---: | | chr7 | 5569176 | G>A | P38L | | chr7 | 5569024 | A>C | M44R | | chr7 | 5569018 | C>T | G46D | | chr7 | 5569006 | T>C | K50R | | chr7 | 5568978 | C>A | Q59H | | chr7 | 5568975 | G>C | S60R | | chr7 | 5568958 | G>A | T66I | | chr7 | 5568955 | A>G | L67P | | chr7 | 5568950 | A>T | Y69N | | chr7 | 5568923 | T>C | N78D | | chr7 | 5568920 | A>C | W79G | [[include:browser_ACTB.md]] ## Expression ![](images/gene_expression/ACTB_by_pathology.svg) [[include:mermaid_ACTB.md]] ## References