TSPYL1 (TSPY like 1)

2014-11-01  

Identity

HGNC
LOCATION
6q22.1
LOCUSID
ALIAS
TSPYL

Other Information

Locus ID:

NCBI: 7259
MIM: 604714
HGNC: 12382
Ensembl: ENSG00000189241

Variants:

dbSNP: 7259
ClinVar: 7259
TCGA: ENSG00000189241
COSMIC: TSPYL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000189241ENST00000368608Q9H0U9
ENSG00000189241ENST00000652202Q9H0U9

Expression (GTEx)

0
50
100
150
200
250

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166123407abirateroneChemicalClinicalAnnotationassociatedPD
PA445425Prostatic NeoplasmsDiseaseClinicalAnnotationassociatedPD
PA451096prednisoloneChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
288473642018Spermatogenic 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.7
169524702006Identification of novel candidate genes for globin regulation in erythroid cells containing large deletions of the human beta-globin gene cluster.4
194639952009Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility.4
164186002006Genetic investigation of the TSPYL1 gene in sudden infant death syndrome.1
221374962012Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?1
254499522015Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland.1

Citation

Dessen P

TSPYL1 (TSPY like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75252/tspyl1