BTBD3 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
BTBD3
History
Mutations in this gene were first described in DLBCL in 2013[@zhangGeneticHeterogeneityDiffuse2013] and by the same group in a subsequent study.[@reddyGeneticFunctionalDrivers2017] It remains in Tier 2 because other exome and genome-wide studies of DLBCL did not reproduce this observation.
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timeline
title Publication timing
2013-01-01 : Zhang : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in DLBCL not firmly established[@zhangGeneticHeterogeneityDiffuse2013] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 0.57 |
| DLBCL | Schmitz cohort | 1.91 |
| DLBCL | Reddy cohort | 1.80 |
| DLBCL | Chapuy cohort | 0.85 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 5.604 | 0 |
| DLBCL | No | No | 0.722 | 0 |
| FL | No | No | 2.655 | 0 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
BTBD3 Expression
Representative Mutations
Rating
★ ★ ☆ ☆ ☆
All Mutations
Reddy_2193T Reddy_2219T Reddy_2240T Reddy_2475T Reddy_2603T Reddy_2698T Reddy_2838T Reddy_2950T Reddy_3387T Reddy_3479T Reddy_3548T Reddy_3566T Reddy_3594T Reddy_3706T Reddy_3708T Reddy_3759T Reddy_3916T Reddy_3918T Reddy_759T