Annotation Detail
Information
- Associated Genes
- PRPS1
- Associated Variants
-
PRPS1 N144S
PRPS1 N144S - Associated Disease
- childhood B-cell acute lymphoblastic leukemia
- Source Database
- CIViC Evidence
- Description
- Lentiviral-mediated overexpression of PRPS1 N144S in Reh cells resulted no difference in response to Methotrexate, Daunorubicin, or L-Asparginase compared to empty vector and wildtype PRPS1 overexpression controls as indicated similar cytotoxicity curves and IC50s.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7930
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4566
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2923
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Childhood B-cell Acute Lymphoblastic Leukemia
- Evidence Direction
- Does Not Support
- Drug
- Daunorubicin,Methotrexate,Asparaginase
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 25962120
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Asparaginase | Resitance or Non-Reponse | false |
| Daunorubicin | Resitance or Non-Reponse | false |
| Methotrexate | Resitance or Non-Reponse | false |