KLHL6 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @ganapathiGeneticLandscapeDural2016, @morinFrequentMutationHistonemodifying2011, @choiLossKLHL6Promotes2018,
Overview
KLHL6 mutations appear to be relatively common in DLBCL, FL and possibly BL.[@morinFrequentMutationHistonemodifying2011] KLHL6 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. KLHL6 mutations lead to the loss of its function as part of a cullin-RING ubiquitin ligase complex. KLHL6 is considered a tumor suppressor gene in DLBCL with mutations tending to disrupt its interaction with cullin3, leading to the loss of its ligase activity.[@choiLossKLHL6Promotes2018]
Experimental Evidence
Driver mutations affecting this gene in DLBCL/FL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@choiLossKLHL6Promotes2018]
Relevance tier by entity
include:tables/table1_KLHL6.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
FL
Mutation pattern and selective pressure estimates
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr3 | 183269360 | 183274139 | TSS | active_promoter-strong_enhancer |
KLHL6 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr3 | 183273284 | C>A | G53V |
| chr3 | 183273275 | A>T | L56* |
| chr3 | 183273274 | T>G | L56F |
| chr3 | 183273248 | A>T | L65Q |
| chr3 | 183273248 | A>G | L65P |
| chr3 | 183273235 | G>C | N69K |
| chr3 | 183273234 | C>G | A70P |
| chr3 | 183273224 | T>G | D73A |
| chr3 | 183273223 | A>C | D73E |
| chr3 | 183273218 | A>C | I75S |
| chr3 | 183273204 | T>C | I80V |
| chr3 | 183273198 | C>G | E82Q |
| chr3 | 183273195 | A>G | F83L |
| chr3 | 183273179 | A>T | V88E |
| chr3 | 183273174 | G>A | L90F |
| chr3 | 183273162 | T>C | S94G |
| chr3 | 183273162 | T>A | S94C |
| chr3 | 183273161 | C>T | S94N |
| chr3 | 183273161 | C>G | S94T |
| chr3 | 183273161 | C>A | S94I |
| chr3 | 183273155 | T>A | Y96F |
| chr3 | 183273153 | A>G | F97L |
include:tables/browser_KLHL6.md
Expression
include:tables/mermaid_KLHL6.md