STS |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- STS (HGNC:11425) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- steroid sulfatase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ARSC1
- Alias symbols
- ARSC
- %HI
- 40.89(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.81(Read more about gnomAD pLI score)
- LOEUF
- 0.44(Read more about gnomAD LOEUF score)
- Cytoband
- Xp22.31
- Genomic Coordinates
-
GRCh37/hg19: chrX:7065331-7272682 NCBI Ensembl UCSC GRCh38/hg38: chrX:7147290-7354641 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001320752.2 ENST00000674429.1 (Read more about MANE Select)
- Function
- Catalyzes the conversion of sulfated steroid precursors, such as dehydroepiandrosterone sulfate (DHEA-S) and estrone sulfate to the free steroid. {ECO:0000269|PubMed:10844566, ECO:0000269|PubMed:23466819, ECO:0000269|PubMed:9252398}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- recessive X-linked ichthyosis Monarch
-
PUBMED:
2813406
Shapiro et al. (1989) describe an individual with X-linked ichthyosis (XLI) and a 40 kb deletion involving exons 2-5 of STS.
-
PUBMED:
10692123
Valdes-Flores et al. (2000) describe an XLI patient with a deletion of exons 2-10 in STS.
-
PUBMED:
9252398
Alperin and Shapiro (1997) discuss six point mutations identified in STS, including one frameshift resulting in premature truncation. In vitro functional expression studies showed that all 6 mutants lacked STS enzymatic activity.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.