CIITA

---

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @mottokGenomicAlterationsCIITA2015, @morinFrequentMutationHistonemodifying2011,

[[TOC]]

Overview

CIITA encodes the major histocompatibility complex (MHC) class II transactivator. CIITA mutations are frequent in PMBCL. These mutations often include structural genomic rearrangements, missense, nonsense, and frameshift mutations. In PMBCL, these mutations are thought to contribute to loss of MHC expression.[@mottokGenomicAlterationsCIITA2015] Although loss of CIITA and MHC Class II Expression is commonly observed in DLBCL, the role of mutations and methylation affecting this locus remains unclear.[@morinFrequentMutationHistonemodifying2011] CIITA is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. The relevance of CIITA mutations in DLBCL remains unclear. Selective pressure analysis did not identify this gene as significantly enriched for either missense or truncating mutations, indicating that many of these mutations may represent passengers.

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@mottokGenomicAlterationsCIITA2015]

Relevance tier by entity

include:tables/table1_CIITA.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

include:tables/DLBCL_CIITA.md

FL

include:tables/FL_CIITA.md

Mutation pattern and selective pressure estimates

include:tables/dnds_CIITA.md

aSHM regions

chr_name	hg19_start	hg19_end	region	regulatory_comment
chr16	10970795	10975465	TSS	active_promoter-strong_enhancer

include:tables/browser_CIITA.md

Expression

include:tables/mermaid_CIITA.md

References