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: 79029
HGNC: 28762
Ensembl: ENSG00000171763
Variants:
dbSNP: 79029
ClinVar: 79029
TCGA: ENSG00000171763
COSMIC: SPATA5L1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000171763 | ENST00000305560 | Q9BVQ7 |
| ENSG00000171763 | ENST00000525552 | H0YL79 |
| ENSG00000171763 | ENST00000531624 | H0YCA5 |
| ENSG00000171763 | ENST00000531970 | Q9BVQ7 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34626583 | 2021 | Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. | 9 |
| 34626583 | 2021 | Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. | 9 |
| 19430482 | 2009 | Multiple loci associated with indices of renal function and chronic kidney disease. | 338 |
| 19430482 | 2009 | Multiple loci associated with indices of renal function and chronic kidney disease. | 338 |
Citation
Dessen P
SPATA5L1 (spermatogenesis associated 5 like 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74143/spata5l1-(spermatogenesis-associated-5-like-1)
