TMEM30A - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
TMEM30A
History
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timeline
title Publication timing
2011-07-27 : Morin : DLBCL
2013-01-01 : Zhang : DLBCL
2013-08-15 : Morin : DLBCL
2017-05-01 : Albuquerque : DLBCL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011; @zhangGeneticHeterogeneityDiffuse2013; @morinMutationalStructuralAnalysis2013] |
 |
2 | relevance in FL not firmly established[@morinFrequentMutationHistonemodifying2011] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 4.78 |
| DLBCL | Schmitz cohort | 7.66 |
| DLBCL | Reddy cohort | 2.80 |
| DLBCL | Chapuy cohort | 5.56 |
| FL | GAMBL genomes | 0.92 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 4.270 | 46.360 |
| DLBCL | No | Yes | 0.000 | 221.848 |
| FL | No | No | 5.098 | 0.000 |
TMEM30A Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 75969072 | G>A | R226* |
| chr6 | 75965985 | G>A | R307* |
| chr6 | 75965975 | A>T | M310K |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
TMEM30A Expression
