COL4A2 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
COL4A2
Overview
Due to minimal support in the original primary data and very few mutations reported in subsequent studies, this gene is very unlikely to be relevant in BL.
<<Warn("The variants reported in this gene failed QC")>>
History
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timeline
title Publication timing
2012-12-01 : Love : BL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
3 | Retired, Failed QC[@loveGeneticLandscapeMutations2012] |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 4.16 |
| BL | Thomas cohort | NA |
| BL | Panea cohort | NA |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 0.564 | 0 |
| DLBCL | No | No | 1.209 | 0 |
| FL | No | No | 1.043 | 0 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
COL4A2 Expression
Representative Mutation
Rating
★ ☆ ☆ ☆ ☆