Human Gene Module / Chromosome 1 / AVPR1B

AVPR1Barginine vasopressin receptor 1B

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
1 / 8
Rare Variants / Common Variants
0 / 5
Aliases
AVPR1B, AVPR3
Associated Syndromes
-
Chromosome Band
1q32.1
Associated Disorders
-
Relevance to Autism

Family-based association testing in 207 families with an ASD proband identified association between two SNPs in the AVPR1B gene (rs28632197, P=0.006 and rs35369693, p=0.025) and a diagnosis of ASD (Francis et al., 2016). Avpr1b knockout mice exhibit a number of behavioral abnormalities, including abnormalities in social behavior and aggression, some of which were gender-specific (Wersinger et al., 2002; Scattoni et al., 2008; DeVito et al., 2009; Caldwell et al., 2010).

Molecular Function

The protein encoded by this gene acts as receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl-inositol-calcium second messenger system.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to AVPR1B (8 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Support Vasopressin V1b receptor knockout reduces aggressive behavior in male mice Wersinger SR , et al. (2002) No -
2 Positive Association Evidence of an association between the vasopressin V1b receptor gene (AVPR1B) and childhood-onset mood disorders Dempster EL , et al. (2007) No -
3 Support Reduced ultrasonic vocalizations in vasopressin 1b knockout mice Scattoni ML , et al. (2007) No -
4 Support Vasopressin 1b receptor knock-out impairs memory for temporal order DeVito LM , et al. (2009) No -
5 Positive Association Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome Chakrabarti B , et al. (2009) No -
6 Support Social dominance in male vasopressin 1b receptor knockout mice Caldwell HK , et al. (2010) No -
7 Support Role of the vasopressin 1b receptor in rodent aggressive behavior and synaptic plasticity in hippocampal area CA2 Pagani JH , et al. (2014) No -
8 Primary ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin- AVPR1A, AVPR1B, and OXTR Francis SM , et al. (2016) Yes -
Rare Variants  

No rare variants reported.

Common Variants   (5)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
- - intergenic_variant - - - 19598235 Chakrabarti B , et al. (2009)
c.*117A>G - 3_prime_UTR_variant - - - 17909131 Dempster EL , et al. (2007)
c.195G>C p.Lys65Asn missense_variant - - - 27920663 Francis SM , et al. (2016)
c.195G>C p.Lys65Asn missense_variant - - - 17909131 Dempster EL , et al. (2007)
c.1091G>A p.Arg364His missense_variant - - - 27920663 Francis SM , et al. (2016)
SFARI Gene score
2

Strong Candidate

Family-based association testing in 207 families with an ASD proband identified association between two SNPs in the AVPR1B gene (rs28632197, P=0.006 and rs35369693, p=0.025) and a diagnosis of ASD (Francis et al., 2016). Avpr1b knockout mice exhibit a number of behavioral abnormalities, including abnormalities in social behavior and aggression, some of which were gender-specific (Wersinger et al., 2002; Scattoni et al., 2008; DeVito et al., 2009; Caldwell et al., 2010).

Score Delta: Score remained at 2

criteria met
See SFARI Gene'scoring criteria
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

Family-based association testing in 207 families with an ASD proband identified association between two SNPs in the AVPR1B gene (rs28632197, P=0.006 and rs35369693, p=0.025) and a diagnosis of ASD (Francis et al., 2016). Avpr1b knockout mice exhibit a number of behavioral abnormalities, including abnormalities in social behavior and aggression, some of which were gender-specific (Wersinger et al., 2002; Scattoni et al., 2008; DeVito et al., 2009; Caldwell et al., 2010).

10/1/2019
4
icon
3

Decreased from 4 to 3

New Scoring Scheme
Description

Family-based association testing in 207 families with an ASD proband identified association between two SNPs in the AVPR1B gene (rs28632197, P=0.006 and rs35369693, p=0.025) and a diagnosis of ASD (Francis et al., 2016). Avpr1b knockout mice exhibit a number of behavioral abnormalities, including abnormalities in social behavior and aggression, some of which were gender-specific (Wersinger et al., 2002; Scattoni et al., 2008; DeVito et al., 2009; Caldwell et al., 2010).

Reports Added
[New Scoring Scheme]
1/1/2017
icon
4

Increased from to 4

Description

Family-based association testing in 207 families with an ASD proband identified association between two SNPs in the AVPR1B gene (rs28632197, P=0.006 and rs35369693, p=0.025) and a diagnosis of ASD (Francis et al., 2016). Avpr1b knockout mice exhibit a number of behavioral abnormalities, including abnormalities in social behavior and aggression, some of which were gender-specific (Wersinger et al., 2002; Scattoni et al., 2008; DeVito et al., 2009; Caldwell et al., 2010).

Krishnan Probability Score

Score 0.49253919669886

Ranking 4502/25841 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.
Original Source
ExAC Score

Score 2.8225537640722E-5

Ranking 13721/18225 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
Original Source
Sanders TADA Score

Score 0.89067660810476

Ranking 5566/18665 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).
Original Source
Zhang D Score

Score -0.16111531816835

Ranking 14460/20870 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.
Original Source
Submit New Gene

Report an Error