Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 7259
MIM: 604714
HGNC: 12382
Ensembl: ENSG00000189241
Variants:
dbSNP: 7259
ClinVar: 7259
TCGA: ENSG00000189241
COSMIC: TSPYL1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000189241 | ENST00000368608 | Q9H0U9 |
| ENSG00000189241 | ENST00000652202 | Q9H0U9 |
Expression (GTEx)
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166123407 | abiraterone | Chemical | ClinicalAnnotation | associated | PD | ||
| PA445425 | Prostatic Neoplasms | Disease | ClinicalAnnotation | associated | PD | ||
| PA451096 | prednisolone | Chemical | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33075815 | 2020 | Unravelling the disease mechanism for TSPYL1 deficiency. | 2 |
| 33075815 | 2020 | Unravelling the disease mechanism for TSPYL1 deficiency. | 2 |
| 28847364 | 2018 | Spermatogenic phenotype of testis-specific protein, Y-encoded, 1 (TSPY1) dosage deficiency is independent of variations in TSPY-like 1 (TSPYL1) and TSPY-like 5 (TSPYL5): a case-control study in a Han Chinese population. | 9 |
| 28847364 | 2018 | Spermatogenic phenotype of testis-specific protein, Y-encoded, 1 (TSPY1) dosage deficiency is independent of variations in TSPY-like 1 (TSPYL1) and TSPY-like 5 (TSPYL5): a case-control study in a Han Chinese population. | 9 |
| 25449952 | 2015 | Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland. | 1 |
| 25449952 | 2015 | Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland. | 1 |
| 22137496 | 2012 | Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility? | 1 |
| 22137496 | 2012 | Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility? | 1 |
| 19463995 | 2009 | Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. | 4 |
| 19463995 | 2009 | Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. | 4 |
| 16418600 | 2006 | Genetic investigation of the TSPYL1 gene in sudden infant death syndrome. | 1 |
| 16952470 | 2006 | Identification of novel candidate genes for globin regulation in erythroid cells containing large deletions of the human beta-globin gene cluster. | 8 |
| 16418600 | 2006 | Genetic investigation of the TSPYL1 gene in sudden infant death syndrome. | 1 |
| 16952470 | 2006 | Identification of novel candidate genes for globin regulation in erythroid cells containing large deletions of the human beta-globin gene cluster. | 8 |
Citation
Dessen P
TSPYL1 (TSPY like 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75252/tspyl1-(tspy-like-1)
