DAZAP1 - morinlab/LLMPP GitHub Wiki
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
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timeline
title Publication timing
2020-07-30 : Pararajalingam : MCL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence DLBCL gene[@pararajalingamCodingNoncodingDrivers2020] |
 |
1 | high-confidence MCL gene [@pararajalingamCodingNoncodingDrivers2020] |
| 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 |
| 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 |
| 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
