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Human Gene Module / Chromosome 20 / AVP

AVPArginine vasopressin

Score
5
Hypothesized Criteria 5.1
Autism Reports / Total Reports
1 / 4
Rare Variants / Common Variants
0 / 1
Aliases
AVP, ADH,  ARVP-NPII,  AVRP,  VP, AVP
Associated Syndromes
-
Genetic Category
Genetic Association, Functional
Chromosome Band
20p13
Associated Disorders
-
Relevance to Autism

Brattleboro rats, which have a spontaneous mutation disrupting the AVP gene, were shown to display a natural deficit in social discrimination that could be reversed by treatment with clozapine or a neurotensin analog (Feifel et al., 2009). One of the receptors for arginine vasopressin is the protein encoded by the ASD-associated gene AVPR1.

Molecular Function

This gene encodes a member of the vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products, including the neuropeptide hormone arginine vasopressin. Arginine vasopressin plays a role in many biological processes, including cognition, tolerance, adaptation and complex sexual and maternal behaviour.

Reports related to AVP (4 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary The brattleboro rat displays a natural deficit in social discrimination that is restored by clozapine and a neurotensin analog. Feifel D , et al. (2009) No -
2 Support Atypical Social Development in Vasopressin-Deficient Brattleboro Rats. Paul MJ , et al. (2016) No -
3 Positive Association Variants in Adjacent Oxytocin/Vasopressin Gene Region and Associations with ASD Diagnosis and Other Autism Related Endophenotypes. Francis SM , et al. (2016) Yes -
4 Support The vasopressin precursor in the Brattleboro (di/di) rat. Birkett SD and Pickering BT (1988) No -
Rare Variants  

No rare variants reported.

Common Variants   (1)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
- - intergenic_variant - - - 27242401 Francis SM , et al. (2016)
SFARI Gene score
5

Hypothesized

5

Score Delta: Score remained at 5.1

5

Hypothesized

See all Category 5 Genes

Category 5.1 includes genes for which the only evidence comes from studies of model organisms, without statistical or genetic support in human studies.

7/1/2016
5
icon
5

Score remained at 5

Description

Brattleboro rats, which have a spontaneous mutation disrupting the AVP gene, were shown to display a natural deficit in social discrimination that could be reversed by treatment with clozapine or a neurotensin analog (Feifel et al., 2009). One of the receptors for arginine vasopressin is the protein encoded by the ASD-associated gene AVPR1.

4/1/2016
5
icon
5

Score remained at 5

Description

Brattleboro rats, which have a spontaneous mutation disrupting the AVP gene, were shown to display a natural deficit in social discrimination that could be reversed by treatment with clozapine or a neurotensin analog (Feifel et al., 2009). One of the receptors for arginine vasopressin is the protein encoded by the ASD-associated gene AVPR1.

10/1/2015
icon
5

Increased from to 5

Description

Brattleboro rats, which have a spontaneous mutation disrupting the AVP gene, were shown to display a natural deficit in social discrimination that could be reversed by treatment with clozapine or a neurotensin analog (Feifel et al., 2009). One of the receptors for arginine vasopressin is the protein encoded by the ASD-associated gene AVPR1.

Krishnan Probability Score

Score 0.44834739002528

Ranking 11615/25841 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 0.18314510245394

Ranking 7133/18225 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 0.90056614059315

Ranking 6437/18665 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 -0.021338745720889

Ranking 9399/20870 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.
CNVs associated with AVP(1 CNVs)
20p13 30 Deletion-Duplication 50  /  98
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