Table of Contents
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.
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | Role of ZFP36L1 mutations in BL requires confirmation | |
| 1 | High-confidence DLBCL gene | |
| 1 | High-confidence PMBL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
| Entity | Collection | N | mutated | Incidence | 95% CI |
|---|---|---|---|---|---|
| DLBCL | GAMBL without Reddy | 1,089 | 82 | 0.0753 | [0.0596,0.091] |
| DLBCL | GAMBL with Reddy | 2,088 | 138 | 0.0661 | [0.0554,0.0767] |
| DLBCL | BC | 231 | 9 | 0.0390 | [0.014,0.0639] |
| DLBCL | Dana-Farber | 303 | 24 | 0.0792 | [0.0488,0.1096] |
| DLBCL | NCI | 470 | 40 | 0.0851 | [0.0599,0.1103] |
| DLBCL | Reddy | 999 | 56 | 0.0561 | [0.0418,0.0703] |
| DLBCL | DLBCL_ICGC | 85 | 9 | 0.1059 | [0.0405,0.1713] |
BL
| pathology | Collection | N | mutated | Incidence | CI |
|---|---|---|---|---|---|
| BL | GAMBL without Panea | 309 | 4 | 0.0034 | [0,0.0098] |
| BL | GAMBL without ICGC/Zhou | 320 | 7 | 0.0208 | [0.0052,0.0364] |
| BL | GAMBL with Panea | 410 | 7 | 0.0043 | [0,0.0106] |
| BL | BLGSP | 219 | 4 | 0.0183 | [5e-04,0.036] |
| BL | Zhou/ICGC | 90 | 0 | 0.0011 | [0,0.008] |
| BL | Panea | 101 | 3 | 0.0297 | [0,0.0628] |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 1.4428 | 108.9442 | 0.0012 |
| FL | 3.0952 | 92.5587 | 0.0000 |
| DLBCL | 1.1243 | 15.4958 | 0.0000 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr14 | 69257848 | 69259739 | TSS | active_promoter |
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Expression
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
References
1.
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Horsman DE, Moore R, Jones SJM, Connors JM, Hirst M, Gascoyne RD, Marra
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2.
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3.
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