ACTG1 - morinlab/LLMPP GitHub Wiki
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ACTG1
ACTG1 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas. The function of mutations in ACTB and ACTG1 have not yet been determined.[@witjesPrevalenceCytoplasmicActin2020b]
History
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timeline
title Publication timing
2016-09-08 : Spina : MZL
2019-08-20 : Desch : PMBL
2021-05-05 : Hübschmann : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in PMBL/cHL/GZL not firmly established[@deschGenotypingCirculatingTumor2020] |
 |
2 | relevance in MZL not firmly established[@spinaGeneticsNodalMarginal2016b] |
 |
2 | relevance in FL not firmly established[@hubschmannMutationalMechanismsShaping2021b] |
 |
1 | aSHM target and high-confidence DLBCL gene[@hubschmannMutationalMechanismsShaping2021b] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 5.35 |
| DLBCL | Schmitz cohort | 7.45 |
| DLBCL | Reddy cohort | 4.70 |
| DLBCL | Chapuy cohort | 2.99 |
| FL | GAMBL genomes | 3.00 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 2.063 | 8.011 |
| DLBCL | Yes | No | 2.125 | 0.000 |
| FL | Yes | No | 8.128 | 0.000 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr17 | 79478289 | 79479959 | intron | NA |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
ACTG1 Expression
