Human Gene Module / Chromosome X / AR

ARandrogen receptor

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
1 / 6
Rare Variants / Common Variants
0 / 3
Aliases
AR, KD,  AIS,  TFM,  DHTR,  SBMA,  NR3C4,  SMAX1,  HUMARA,  AR
Associated Syndromes
-
Chromosome Band
Xq12
Associated Disorders
-
Relevance to Autism

Genetic association has been found between the AR gene and autism (Henningsson et al., 2009).

Molecular Function

The protein functions as a steroid-hormone activated transcription factor.

SFARI Genomic Platforms
Reports related to AR (6 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Highly Cited Sex differences in the brain: implications for explaining autism Baron-Cohen S , et al. (2005) No -
2 Recent Recommendation JHDM2A, a JmjC-containing H3K9 demethylase, facilitates transcription activation by androgen receptor Yamane K , et al. (2006) No -
3 Recent Recommendation The androgen receptor is selectively involved in organization of sexually dimorphic social behaviors in mice Bodo C and Rissman EF (2008) No -
4 Recent Recommendation Growth of white matter in the adolescent brain: role of testosterone and androgen receptor Perrin JS , et al. (2008) No -
5 Primary Possible association between the androgen receptor gene and autism spectrum disorder Henningsson S , et al. (2009) Yes -
6 Highly Cited Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy La Spada AR , et al. (1991) No -
Rare Variants  

No rare variants reported.

Common Variants   (3)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
c.1416_1418CGG[9][11][15][16][17] p.Gly473_Glu474insGlyGlyGlyGlyGly trinucleotide_repeat_microsatellite_feature - - - 19167832 Henningsson S , et al. (2009)
c.172_174CAG(10_36) p.Gln69_Gln80del;p.Gln58_Gln79delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGln trinucleotide_repeat_microsatellite_feature - - - 19167832 Henningsson S , et al. (2009)
c.639G>A p.(=) synonymous_variant - - - 19167832 Henningsson S , et al. (2009)
SFARI Gene score
2

Strong Candidate

Biological candidate. Single association study with equivocal results (PMID: 19167832).

Score Delta: Score remained at 2

2

Strong Candidate

See all Category 2 Genes

We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.

4/1/2022
3
icon
2

Decreased from 3 to 2

Description

Biological candidate. Single association study with equivocal results (PMID: 19167832).

10/1/2019
4
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3

Decreased from 4 to 3

New Scoring Scheme
Description

Biological candidate. Single association study with equivocal results (PMID: 19167832).

Reports Added
[New Scoring Scheme]
7/1/2014
No data
icon
4

Increased from No data to 4

Description

Biological candidate. Single association study with equivocal results (PMID: 19167832).

4/1/2014
No data
icon
4

Increased from No data to 4

Description

Biological candidate. Single association study with equivocal results (PMID: 19167832).

Krishnan Probability Score

Score 0.53462206694282

Ranking 1499/25841 scored genes


[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
ExAC Score

Score 0.99490980991855

Ranking 1533/18225 scored genes


[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle aned_exac_nonTCGA_z_pli_rec_null_data.txt
Sanders TADA Score

Score 0.94109933800701

Ranking 14808/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Larsen Cumulative Evidence Score

Score 2

Ranking 375/461 scored genes


[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size, and variant frequency in the general population. The approach was first presented in Mol Autism 7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from that paper.
Zhang D Score

Score 0.2916067592789

Ranking 2864/20870 scored genes


[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
ARR19 CKLF-like MARVEL transmembrane domain containing 2A Mouse Protein Binding 73381 Q9DAR1
FOXP1 forkhead box P1 Human DNA Binding 27086 Q9H334
GRIP1 glutamate receptor interacting protein 1 Human Protein Binding 23426 Q9Y3R0
HOTAIR HOX transcript antisense RNA Human RNA Binding 100124700
JMJD1C jumonji domain containing 1C Human Protein Binding 221037 Q15652
KDM5B lysine (K)-specific demethylase 5B Human Protein Binding 10765 Q9UGL1
KIF1A kinesin family member 1A Human Protein Binding 547 Q12756
NSD1 nuclear receptor binding SET domain protein 1 Human Protein Binding 64324 Q96L73
PRKCB1 protein kinase C, beta Human Protein Binding 5579 P05771
PTEN phosphatase and tensin homolog Human Protein Binding 5728 F6KD01
TSC2 tuberous sclerosis 2 Human DNA Binding 7249 P49815
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