chrX:106871658:> Detail (hg19) (PRPS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:106,871,658-106,894,256 |
| hg38 | chrX:107,628,428-107,651,026 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| childhood B-cell acute lymphoblastic leukemia | B |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 3 | 25962120 | Detail | |
| childhood B-cell acute lymphoblastic leukemia | Thioguanine,Mercaptopurine | D |
Predictive
|
Supports
|
Resistance | Somatic | 5 | 25962120 | Detail |
| childhood B-cell acute lymphoblastic leukemia | Mercaptopurine,Lometrexol | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 25962120 | Detail |
| childhood B-cell acute lymphoblastic leukemia | Daunorubicin,Asparaginase,Cytarabine,Methotrexate | D |
Predictive
|
Does Not Support
|
Resistance | Somatic | 3 | 25962120 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| PRPS1 exons were sequenced in the diagnosis and relapse samples of 358 B-Cell Childhood Acute Lympho... | CIViC Evidence | Detail |
| Lentiviral-mediated overexpression of PRPS1 A190T in Reh cells resulted in significant resistance ag... | CIViC Evidence | Detail |
| Treatment with the GART inhibitor, Lometrexol (de novo purine synthesis inhibitor), sensitized Reh c... | CIViC Evidence | Detail |
| Lentiviral-mediated overexpression of PRPS1 A190T in Reh cells resulted no difference in response to... | CIViC Evidence | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chrX:106,871,658-106,894,256
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- A190V
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2928
- Variant (CIViC) (CIViC Variant)
- A190T
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2929
Genome browser