KLHL6 - morinlab/LLMPP GitHub Wiki
KLHL6 mutations appear to be relatively common in DLBCL, FL and possibly BL.1 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.2
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timeline
title Publication timing
2011-07-27 : Morin : FL
2016-05-27 : Ganapathi : MZL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence MZL gene[@ganapathiGeneticLandscapeDural2016] |
 |
1-a | aSHM target and high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011] |
 |
1-a | aSHM target and high-confidence FL gene [@morinFrequentMutationHistonemodifying2011] |
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 5.35 |
| DLBCL | Schmitz cohort | 9.15 |
| DLBCL | Reddy cohort | 6.41 |
| DLBCL | Chapuy cohort | 8.97 |
| FL | GAMBL genomes | 7.16 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 4.630 | 0.000 |
| DLBCL | Yes | No | 7.379 | 6.684 |
| FL | Yes | Yes | 20.169 | 55.914 |
| 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 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
