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POU2AF1

Ryan Morin edited this page Dec 16, 2024 · 24 revisions

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

[[TOC]]

Overview

POU2AF1 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.

Relevance tier by entity

Entity Tier Description
MZL 1 high-confidence MZL gene
DLBCL 1 high-confidence DLBCL gene, hypermutated[@chapuyMolecularSubtypesDiffuse2018]
FL 1 high-confidence FL gene, hypermutated [@krysiakRecurrentSomaticMutations2017]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

include:DLBCL_POU2AF1.md include:FL_POU2AF1.md

Mutation pattern and selective pressure estimates

include:dnds_POU2AF1.md

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr11 111248078 111250224 TSS active_promoter

POU2AF1 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr11 111249894 C>T W3*
chr11 111249899 G>A L2F
chr11 111249900 C>T M1?
chr11 111275352 T>C R6G

include:browser_POU2AF1.md

Expression

include:mermaid_POU2AF1.md

References

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