Human Gene Module / Chromosome 20 / OXT

OXToxytocin/neurophysin I prepropeptide

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
4 / 5
Rare Variants / Common Variants
1 / 7
Aliases
OXT, OT,  OT-NPI-NPI, OXT
Associated Syndromes
-
Chromosome Band
20p13
Associated Disorders
ASD
Relevance to Autism

OXT polymorphisms have been found to associate with a diagnosis of ASD (Chakrabarti et al., 2009; Francis et al., 2016), ASD subphenotypes (Yrigollen et al., 2008; Francis et al., 2016), and autistic-like traits in the general population (Hovey et al., 2014).

Molecular Function

This gene encodes a precursor protein that is processed to produce oxytocin and neurophysin I. Oxytocin is a hormone involved in a number of processses, including contraction of smooth muscle during parturition and lactation, cognition, tolerance, adaptation, complex sexual and maternal behaviour, and the regulation of water excretion and cardiovascular functions.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
Mouse
Entrez GeneMouse Genome InformaticsAllen Brain Atlas
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to OXT (5 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Positive Association Genes controlling affiliative behavior as candidate genes for autism Yrigollen CM , et al. (2008) Yes -
2 Primary Arginine vasopressin and oxytocin modulate human social behavior Ebstein RP , et al. (2009) Yes Asperger syndrome
3 Positive Association Associations between oxytocin-related genes and autistic-like traits Hovey D , et al. (2014) No -
4 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 -
5 Support Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks Ruzzo EK , et al. (2019) Yes -
Rare Variants   (1)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.322+2T>C - splice_site_variant Familial Maternal Multiplex 31398340 Ruzzo EK , et al. (2019)
Common Variants   (7)
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)
- - intergenic_variant - - - 18207134 Yrigollen CM , et al. (2008)
c.-90+120G>C - intron_variant - - - 27242401 Francis SM , et al. (2016)
c.*450G>A - 500B_downstream_variant - - - 24635660 Hovey D , et al. (2014)
c.-1195G>A - 2_KB_upstream_variant - - - 27242401 Francis SM , et al. (2016)
c.-2001A>G - 2_KB_upstream_variant - - - 27242401 Francis SM , et al. (2016)
c.*450G>A - 500B_downstream_variant - - - 19598235 Chakrabarti B , et al. (2009)
SFARI Gene score
2

Strong Candidate

OXT polymorphisms have been found to associate with a diagnosis of ASD (Chakrabarti et al., 2009; Francis et al., 2016), ASD subphenotypes (Yrigollen et al., 2008; Francis et al., 2016), and autistic-like traits in the general population (Hovey et al., 2014).

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

OXT polymorphisms have been found to associate with a diagnosis of ASD (Chakrabarti et al., 2009; Francis et al., 2016), ASD subphenotypes (Yrigollen et al., 2008; Francis et al., 2016), and autistic-like traits in the general population (Hovey et al., 2014).

10/1/2019
4
icon
3

Decreased from 4 to 3

New Scoring Scheme
Description

OXT polymorphisms have been found to associate with a diagnosis of ASD (Chakrabarti et al., 2009; Francis et al., 2016), ASD subphenotypes (Yrigollen et al., 2008; Francis et al., 2016), and autistic-like traits in the general population (Hovey et al., 2014).

Reports Added
[New Scoring Scheme]
7/1/2019
4
icon
4

Decreased from 4 to 4

Description

OXT polymorphisms have been found to associate with a diagnosis of ASD (Chakrabarti et al., 2009; Francis et al., 2016), ASD subphenotypes (Yrigollen et al., 2008; Francis et al., 2016), and autistic-like traits in the general population (Hovey et al., 2014).

Reports Added
[Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.2019]
7/1/2016
icon
4

Increased from to 4

Description

OXT polymorphisms have been found to associate with a diagnosis of ASD (Chakrabarti et al., 2009; Francis et al., 2016), ASD subphenotypes (Yrigollen et al., 2008; Francis et al., 2016), and autistic-like traits in the general population (Hovey et al., 2014).

Krishnan Probability Score

Score 0.45547602359786

Ranking 10022/25841 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 0.62795746033166

Ranking 4863/18225 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 0.90778025832886

Ranking 7243/18665 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 -0.11942273828891

Ranking 13112/20870 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
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