ZFP36L1
Overview
ZFP36L1 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. ## History
| Entity | Tier | Description |
|---|---|---|
| 2 | relevance in MCL not firmly established | |
| 1 | high-confidence PMBL/cHL/GZL gene | |
| 2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous | |
| 1-a | aSHM target and high-confidence DLBCL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 2.08 |
| BL | Thomas cohort | 2.10 |
| BL | Panea cohort | 3.00 |
| DLBCL | GAMBL genomes | 6.69 |
| DLBCL | Schmitz cohort | 8.51 |
| DLBCL | Reddy cohort | 5.61 |
| DLBCL | Chapuy cohort | 8.12 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | Yes | 2.453 | 185.809 |
| DLBCL | Yes | Yes | 1.293 | 14.964 |
| FL | Yes | Yes | 7.622 | 419.109 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr14 | 69257848 | 69259739 | TSS | active_promoter |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## ZFP36L1
Expression
## References
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