TBC1D4 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
TBC1D4
History
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timeline
title Publication timing
2018-10-01 : Arthur : DLBCL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous [@arthurGenomewideDiscoverySomatic2018] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 2.29 |
| DLBCL | Schmitz cohort | 5.11 |
| DLBCL | Reddy cohort | 2.70 |
| DLBCL | Chapuy cohort | 5.56 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 0.792 | 0.000 |
| DLBCL | Yes | No | 1.783 | 6.266 |
| FL | Yes | No | 0.860 | 0.000 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr13 | 75982519 | 75986015 | intron | NA |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
TBC1D4 Expression
