DNM2 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @hubschmannMutationalMechanismsShaping2021,
Overview
Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021]
Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 2.29 |
| DLBCL | Schmitz cohort | 1.70 |
| DLBCL | Reddy cohort | 1.80 |
| DLBCL | Chapuy cohort | 1.28 |
Mutation pattern and selective pressure estimates
DNM2 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr19 | 10934492 | G>A | E604K |
include:tables/browser_DNM2.md
Expression
All Mutations
SP124975 SP116624 SP59412 SP124969 SP116649 SP124975 SP193130
include:tables/mermaid_DNM2.md