Human Gene Module / Chromosome 1 / AVPR1B

AVPR1Barginine vasopressin receptor 1B

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
1 / 8
Rare Variants / Common Variants
0 / 5
Aliases
AVPR1B, AVPR3
Associated Syndromes
-
Genetic Category
Genetic Association, Functional
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.

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
3

Suggestive Evidence

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 4

3

Suggestive Evidence

See all Category 3 Genes

The literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.

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.
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
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).
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.
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