Table of Contents
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.1
Relevance tier by entity
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Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 1.91 |
| DLBCL | Schmitz cohort | 5.32 |
| DLBCL | Reddy cohort | 1.60 |
| DLBCL | Chapuy cohort | 0.43 |
| MCL | GAMBL genomes | 4.27 |
Mutation pattern and selective pressure estimates
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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 |
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Expression
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References
1.
Pararajalingam P, Coyle KM, Arthur SE, Thomas
N, Alcaide M, Meissner B, Boyle M, Qureshi Q, Grande BM, Rushton C,
Slack GW, Mungall AJ, Tam CS, Agarwal R, Dawson SJ, Lenz G,
Balasubramanian S, Gascoyne RD, Steidl C, Connors J, Villa D, Audas TE,
Marra MA, Johnson NA, Scott DW, Morin RD. Coding and noncoding drivers
of mantle cell lymphoma identified through exome and genome sequencing.
Blood. 2020 Jul 30;136(5):572–584. PMCID: PMC7440974