DAZAP1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @pararajalingamCodingNoncodingDrivers2020,
Overview
This gene has some recurrent sites of mutations (hot spots). The mutation pattern in DLBCL and FL implies the preferential accumulation of inactivating mutations however the pattern is notable. These mutations often result in truncations affecting the DAZAP1 C-terminus, which are predicted to alter protein sub-cellular localization and disrupt protein-protein interactions.[@pararajalingamCodingNoncodingDrivers2020]
Relevance tier by entity
include:tables/table1_DAZAP1.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
MCL
Mutation pattern and selective pressure estimates
DAZAP1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr19 | 1434897 | C>T | P404S |
| chr19 | 1434900 | T>A | Y405N |
| chr19 | 1434903 | C>G | R406G |
| chr19 | 1434903 | C>T | R406* |
| chr19 | 1434906 | C>T | R407C |
include:tables/browser_DAZAP1.md
Expression
include:tables/mermaid_DAZAP1.md