Table of Contents
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | Role of TRAF6 mutations in DLBCL requires confirmation |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 1.34 |
| DLBCL | Schmitz cohort | 1.49 |
| DLBCL | Reddy cohort | 0.90 |
| DLBCL | Chapuy cohort | 1.28 |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 0.0000 | 0.0000 | 1.0000 |
| FL | 1.7288 | 17.7767 | 1.0000 |
| DLBCL | 0.0000 | 0.0000 | 0.9986 |
TRAF6 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr11 | 36511924 | C>A | E345* |
| chr11 | 36511915 | G>A | Q348* |
| chr11 | 36511893 | C>T | W355* |
| chr11 | 36511892 | C>T | W355* |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
Expression
All Mutations
SP116630 SP193005 SP193312 SP59456
History
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timeline
title Publication timing
2021-05-05 : Hübschmann : DLBCL
References
1.
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de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann
ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C,
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