DAZAP1
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
| Entity | Tier | Description |
|---|---|---|
| DLBCL | 1 | high-confidence DLBCL gene |
| MCL | 1 | high-confidence MCL gene |
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
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 0 | 0.000 |
| DLBCL | No | No | 0 | 35.642 |
| FL | No | No | 0 | 53.351 |
[!NOTE] First described in MCL in 2020 by Pararajalingam P
## 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 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
References
-
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. doi: 10.1182/blood.2019002385. PMID: 32160292; PMCID:
PMC7440974.## DAZAP1 Expression
