ZFP36L1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib'
csl: 'NLM.csl'
link-citations: true
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
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timeline
title Publication timing
2011-07-27 : Morin : DLBCL
2015-02-12 : Reichel : PMBL
2017-05-01 : Albuquerque : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-05-01 : Chapuy : DLBCL
2018-10-01 : Arthur : DLBCL
2019-09-26 : Panea : BL
2021-05-05 : Hubschmann : DLBCL
Relevance tier by entity
Entity |
Tier |
Description |
![MCL](https://github.com/morinlab/LLMPP/wiki/images/icons/MCL_tier2.png) |
2 |
relevance in MCL not firmly established |
![PMBL](https://github.com/morinlab/LLMPP/wiki/images/icons/PMBL_tier1.png) |
1 |
high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015a] |
![BL](https://github.com/morinlab/LLMPP/wiki/images/icons/BL_tier2.png) |
2-a |
aSHM target; Although recurrent, the relevance of mutations in BL is tenuous [@paneaWholeGenomeLandscape2019] |
![DLBCL](https://github.com/morinlab/LLMPP/wiki/images/icons/DLBCL_tier1.png) |
1-a |
aSHM target and high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011] |
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
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/ZFP36L1_NM_004926.svg)
View all variants in GenomePaint hg19 or hg38
![](https://github.com/morinlab/LLMPP/wiki/images/proteinpaint/ZFP36L1.svg)
ZFP36L1 Expression
![](https://github.com/morinlab/LLMPP/wiki/images/gene_expression/ZFP36L1_by_pathology.svg)
References