KLHL6
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @ganapathiGeneticLandscapeDural2016, @morinFrequentMutationHistonemodifying2011, @choiLossKLHL6Promotes2018,
[[TOC]]
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]
Driver mutations affecting this gene in DLBCL/FL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@choiLossKLHL6Promotes2018]
include:tables/table1_KLHL6.md
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr3 | 183269360 | 183274139 | TSS | active_promoter-strong_enhancer |
| 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
Disclaimer
The content in these pages has been populated, in part, by an automated process. Although we have scrutinized every page to ensure accuracy, errors will inevitably exist. If you find an error please report it as an issue and we will address it.
In particular, let us know if you feel that an important citation is missing or if a paper has been cited incorrectly.
License
This work is licensed under a Creative Commons Attribution 4.0 International License.
You are free to:
Share — copy and redistribute the material in any medium or format for any purpose, even commercially.
Adapt — remix, transform, and build upon the material for any purpose, even commercially. The licensor cannot revoke these freedoms as long as you follow the license terms.