 |
AR |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- AR (HGNC:644) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- androgen receptor
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DHTR, SBMA
- Alias symbols
- AIS, NR3C4, SMAX1, HUMARA
- %HI
- 0.35(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.99(Read more about gnomAD pLI score)
- LOEUF
- 0.29(Read more about gnomAD LOEUF score)
- Cytoband
- Xq12
- Genomic Coordinates
-
GRCh37/hg19: chrX:66763863-66950461 NCBI Ensembl UCSC GRCh38/hg38: chrX:67544021-67730619 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000044.6 ENST00000374690.9 (Read more about MANE Select)
- Function
- Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues (PubMed:19022849). Transcription factor activity is modulated by bound coactivator and corepressor proteins like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Tran... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- androgen insensitivity syndrome Monarch
-
PUBMED:
22334387
Gottlieb et al. (2012) provide an update on the mutational spectrum of AR based on the current AR variant database. This database includes over 500 AR variants in androgen insensitivity syndrome (AIS) patients, including 54 premature stop codons and 21 partial gene deletions.
-
PUBMED:
27994190
Saranya et al. (2016) identified three novel AR mutations, including two LOF variants p.Q68X and p D266fs295ter, associated with androgen insensitivity syndrome in sex-reversed XY female patients.
-
PUBMED:
30742848
Liu et al. (2019) identified a de novo LOF variant (c.192_193insTAGCAG, p.Gln65*) in a patient with severe forms of complete androgen insensitivity syndrome.
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.
