OXTRoxytocin receptor

SFARI Gene Score

Strong Candidate Criteria 2.1

Autism Reports / Total Reports

23 / 50

Rare Variants / Common Variants

3 / 43

Aliases

OXTR, OT-R

Associated Syndromes

Chromosome Band

3p25.3

Associated Disorders

ASD

Relevance to Autism

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. Genetic association has also been found between OXTR and lower levels of difficulty hearing and understanding people in noisy environments (Tops et al., 2011).

Molecular Function

The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system.

SFARI Genomic Platforms

GPF browser SFARI genome browser

Reports (50)
Variants (46)
Gene Score
Protein Interactions (3)

Reports related to OXTR (50 Reports)

#	Type	Title	Author, Year	Autism Report	Associated Disorders
1	Highly Cited	Structure and expression of a human oxytocin receptor	Kimura T , et al. (1992)	No	-
2	Primary	Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population	Wu S , et al. (2005)	Yes	-
3	Recent Recommendation	Gonadal steroid modulation of stress-induced hypothalamo-pituitary-adrenal activity and anxiety behavior: role of central oxytocin	Windle RJ , et al. (2006)	No	-
4	Recent Recommendation	Oxytocin receptor signaling in myoepithelial and cancer cells	Reversi A , et al. (2006)	No	-
5	Recent Recommendation	CD38 is critical for social behaviour by regulating oxytocin secretion	Jin D , et al. (2007)	No	-
6	Positive Association	Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism	Jacob S , et al. (2007)	Yes	-
7	Recent Recommendation	G-protein coupled receptors & autism -- reflections on a double-edged sword at the example of the oxytocin receptor system	Rojas Walh RU (2007)	No	-
8	Positive Association	Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition	Lerer E , et al. (2007)	Yes	-
9	Positive Association	Genes controlling affiliative behavior as candidate genes for autism	Yrigollen CM , et al. (2008)	Yes	-
10	Recent Recommendation	A conditional knockout mouse line of the oxytocin receptor	Lee HJ , et al. (2008)	No	-
11	Positive Association	Evidence for the involvement of genetic variation in the oxytocin receptor gene (OXTR) in the etiology of autistic disorders on high-functioning level	Wermter AK , et al. (2009)	Yes	-
12	Support	Genomic and epigenetic evidence for oxytocin receptor deficiency in autism	Gregory SG , et al. (2009)	Yes	-
13	Positive Association	Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population	Liu X , et al. (2010)	Yes	-
14	Negative Association	Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: genetic and molecular studies	Tansey KE , et al. (2010)	Yes	-
15	Recent Recommendation	Association between the oxytocin receptor gene and amygdalar volume in healthy adults	Inoue H , et al. (2010)	No	-
16	Recent Recommendation	Pharmacologic rescue of impaired cognitive flexibility, social deficits, increased aggression, and seizure susceptibility in oxytocin receptor null mice: a neurobehavioral model of autism	Sala M , et al. (2011)	No	-
17	Positive Association	Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder	Campbell DB , et al. (2011)	Yes	-
18	Recent Recommendation	Oxytocin receptor gene associated with the efficiency of social auditory processing	Tops M , et al. (2011)	No	-
19	Recent Recommendation	Variant in OXTR gene and functional connectivity of the hypothalamus in normal subjects	Wang J , et al. (2013)	No	-
20	Positive Association	Non-synonymous single-nucleotide variations of the human oxytocin receptor gene and autism spectrum disorders: a case-control study in a Japanese population and functional analysis	Ma WJ , et al. (2013)	Yes	-
21	Support	Neural correlate of autistic-like traits and a common allele in the oxytocin receptor gene	Saito Y , et al. (2013)	No	-
22	Recent Recommendation	Common polymorphism in the oxytocin receptor gene (OXTR) is associated with human social recognition skills	Skuse DH , et al. (2013)	No	-
23	Recent Recommendation	Possible association between the oxytocin receptor gene and N-acetylaspartate of the right medial temporal lobe in autism spectrum disorders	Egawa J , et al. (2014)	No	-
24	Recent Recommendation	Association between the oxytocin receptor (OXTR) gene and mesolimbic responses to rewards	Damiano CR , et al. (2014)	No	-
25	Positive Association	The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis	LoParo D and Waldman ID (2014)	Yes	-
26	Positive Association	Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder	Parker KJ , et al. (2014)	No	-
27	Positive Association	Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome	Di Napoli A , et al. (2014)	Yes	Asperger syndrome
28	Negative Association	Association study in siblings and case-controls of serotonin- and oxytocin-related genes with high functioning autism	Nyffeler J , et al. (2014)	Yes	-
29	Positive Association	Association between Genetic Variation in the Oxytocin Receptor Gene and Emotional Withdrawal, but not between Oxytocin Pathway Genes and Diagnosis in Psychotic Disorders	Haram M , et al. (2015)	No	Emotional withdrawal
30	Recent Recommendation	Hypomethylation of miR-142 promoter and upregulation of microRNAs that target the oxytocin receptor gene in the autism prefrontal cortex	Mor M , et al. (2015)	No	-
31	Positive Association	Genetic variation in the oxytocin receptor gene is associated with a social phenotype in autism spectrum disorders	Harrison AJ , et al. (2015)	Yes	Social behavior, repetitive behavior
32	Positive Association	Meta-analysis and association of two common polymorphisms of the human oxytocin receptor gene in autism spectrum disorder	Kranz TM , et al. (2016)	Yes	-
33	Support	Variation in the oxytocin receptor gene (OXTR) is associated with differences in moral judgment	Bernhard RM , et al. (2016)	No	-
34	Recent Recommendation	Prenatal stress exposure, oxytocin receptor gene (OXTR) methylation, and child autistic traits: The moderating role of OXTR rs53576 genotype	Rijlaarsdam J , et al. (2016)	No	-
35	Positive Association	ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin- AVPR1A, AVPR1B, and OXTR	Francis SM , et al. (2016)	Yes	ASD subphenotypes
36	Support	Relationship of a common OXTR gene variant to brain structure and default mode network function in healthy humans	Wang J , et al. (2016)	No	-
37	Positive Association	Serum Oxytocin Levels and an Oxytocin Receptor Gene Polymorphism (rs2254298) Indicate Social Deficits in Children and Adolescents with Autism Spectrum Disorders	Yang S , et al. (2017)	Yes	"Stereotypes and object use" subscale in the Autis
38	Positive Association	Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders	Baribeau DA , et al. (2017)	Yes	Severity of social deficits
39	Positive Association	A functional polymorphism of the OXTR gene is associated with autistic traits in Caucasian and Asian populations	Montag C , et al. (2017)	No	-
40	Positive Association	The oxytocin receptor gene polymorphism -rs237902- is associated with the severity of autism spectrum disorder: A pilot study	Ocakolu FT , et al. (2018)	Yes	ASD severity (based on CARS scores)
41	Negative Association	No Association between Polymorphisms of Vitamin D and Oxytocin Receptor Genes and Autistic Spectrum Disorder in a Sample of Turkish Children	Bozdogan ST , et al. (2018)	Yes	-
42	Support	Oxytocin receptor knockout prairie voles generated by CRISPR/Cas9 editing show reduced preference for social novelty and exaggerated repetitive behaviors	Horie K , et al. (2019)	No	-
43	Support	A common variant in OXTR rs53576 impacts topological patterns of brain functional networks	Wang J , et al. (2019)	No	-
44	Recent recommendation	Epigenetic modification of the oxytocin receptor gene: implications for autism symptom severity and brain functional connectivity	Andari E , et al. (2020)	No	-
45	Support	Imaging-genetics of sex differences in ASD: distinct effects of OXTR variants on brain connectivity	Hernandez LM , et al. (2020)	No	-
46	Support	-	Ohashi K et al. (2021)	Yes	-
47	Support	-	Meyer M et al. (2022)	Yes	ASD subphenotypes
48	Support	-	Zhou X et al. (2022)	Yes	-
49	Highly Cited	Alteration of the myometrial plasma membrane cholesterol content with beta-cyclodextrin modulates the binding affinity of the oxytocin receptor	Klein U , et al. (1995)	No	-
50	Highly Cited	Inhibition of oxytocin receptor function by direct binding of progesterone	Grazzini E , et al. (1998)	No	-

Rare Variants (3)

Allele Change	Residue Change	Variant Type	Inheritance Pattern	Parental Transmission	Family Type	PubMed ID	Author, Year
c.121G>T	p.Val41Leu	missense_variant	De novo	-	-	35982159	Zhou X et al. (2022)
-	-	copy_number_loss	Familial	Maternal	Multiplex	19845972	Gregory SG , et al. (2009)
c.1126C>G	p.Arg376Gly	missense_variant	Familial	Maternal	-	33590427	Ohashi K et al. (2021)

Common Variants (43)

Allele Change	Residue Change	Variant Type	Inheritance Pattern	Paternal Transmission	Family Type	PubMed ID	Author, Year
c.*1078C>T	-	500B_downstream_variant, 3_prime_UTR_variant	-	-	-	26365303	Harrison AJ , et al. (2015)
-	-	downstream_gene_variant	-	-	-	20303388	Tansey KE , et al. (2010)
c.922+6724C>T	-	intron_variant	-	-	-	28484366	Yang S , et al. (2017)
c.922+6724C>T	G/A	intron_variant	-	-	-	15992526	Wu S , et al. (2005)
c.922+6724C>T	-	intron_variant	-	-	-	17383819	Jacob S , et al. (2007)
c.922+4581T>C	-	intron_variant	-	-	-	25667571	Haram M , et al. (2015)
c.922+667T>C	-	intron_variant	-	-	-	26788924	Kranz TM , et al. (2016)
-	-	downstream_gene_variant	-	-	-	26365303	Harrison AJ , et al. (2015)
c.922+6724C>T	G/A	intron_variant	-	-	-	20094064	Liu X , et al. (2010)
c.923-2132C>T	N/A	intron_variant	-	-	-	20094064	Liu X , et al. (2010)
c.*118C>A	-	3_prime_UTR_variant	-	-	-	17893705	Lerer E , et al. (2007)
c.922+6469A>G	-	intron_variant	-	-	-	26788924	Kranz TM , et al. (2016)
-	N/A	downstream_gene_variant	-	-	-	20303388	Tansey KE , et al. (2010)
c.922+4581T>C	N/A	intron_variant	-	-	-	22069391	Tops M , et al. (2011)
c.922+4581T>C	G to A	intron_variant	-	-	-	15992526	Wu S , et al. (2005)
c.922+6724C>T	-	intron_variant	-	-	-	27920663	Francis SM , et al. (2016)
c.923-5930A>G	-	intron_variant	-	-	-	27920663	Francis SM , et al. (2016)
-	C to G	upstream_gene_variant	-	-	-	19777562	Wermter AK , et al. (2009)
-	N/A	downstream_gene_variant	-	-	-	21484202	Campbell DB , et al. (2011)
c.922+1417C>T	G to A	intron_variant	-	-	-	20094064	Liu X , et al. (2010)
c.923-5488G>A	C to T	intron_variant	-	-	-	20094064	Liu X , et al. (2010)
c.*118C>A	-	3_prime_UTR_variant	-	-	-	27920663	Francis SM , et al. (2016)
c.922+4581T>C	-	intron_variant	-	-	-	28912494	Baribeau DA , et al. (2017)
c.922+6724C>T	-	intron_variant	-	-	-	28912494	Baribeau DA , et al. (2017)
c.923-2132C>T	-	intron_variant	-	-	-	28912494	Baribeau DA , et al. (2017)
c.-238-131C>G	N/A	intron_variant	-	-	-	20303388	Tansey KE , et al. (2010)
c.922+4581T>C	G/A	intron_variant	-	-	-	25092315	Parker KJ , et al. (2014)
c.922+6724C>T	G/A	intron_variant	-	-	-	25092315	Parker KJ , et al. (2014)
c.*118C>A	-	3_prime_UTR_variant	-	-	-	21484202	Campbell DB , et al. (2011)
c.922+6906A>T	A to T	intron_variant	-	-	-	17893705	Lerer E , et al. (2007)
c.923-3676G>A	C to T	intron_variant	-	-	-	17893705	Lerer E , et al. (2007)
c.1126C>G	c.Arg376Gly	missense_variant	-	-	-	23815867	Ma WJ , et al. (2013)
c.*939G>T	A to C	3_prime_UTR_variant	-	-	-	17893705	Lerer E , et al. (2007)
c.690C>T	p.(=)	synonymous_variant	-	-	-	29428512	Ocakolu FT , et al. (2018)
c.923-5930A>G	C/T	intron_variant	-	-	-	25264479	Di Napoli A , et al. (2014)
c.923-5930A>G	T to C	intron_variant	-	-	-	21484202	Campbell DB , et al. (2011)
c.652G>A	p.Ala218Thr	missense_variant	-	-	-	27920663	Francis SM , et al. (2016)
c.923-5930A>G	T to C	intron_variant	-	-	-	18207134	Yrigollen CM , et al. (2008)
c.-1733A>G;c.-1710A>G	-	2_KB_upstream_variant	-	-	-	29027364	Montag C , et al. (2017)
-	Minor allele, A	downstream_gene_variant	-	-	-	25092245	LoParo D and Waldman ID (2014)
c.922+6724C>T	Minor allele, A	intron_variant	-	-	-	25092245	LoParo D and Waldman ID (2014)
c.923-2132C>T	Minor allele, G	intron_variant	-	-	-	25092245	LoParo D and Waldman ID (2014)
c.923-5488G>A	Minor allele, T	intron_variant	-	-	-	25092245	LoParo D and Waldman ID (2014)

Current Score
Scoring History
3rd Party Scoring

SFARI Gene score

Strong Candidate

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. In addition, association has been found with social cognition and through methylation and expression data.

Score Delta: Score remained at 2

criteria met

See SFARI Gene'scoring criteria

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.

1/1/2021

Score remained at 2

Description

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added

[Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings2021]

1/1/2020

Score remained at 2

Description

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added

[A common variant in OXTR rs53576 impacts topological patterns of brain functional networks.2019] [Epigenetic modification of the oxytocin receptor gene: implications for autism symptom severity and brain functional connectivity.2020] [Imaging-genetics of sex differences in ASD: distinct effects of OXTR variants on brain connectivity.2020]

10/1/2019

Decreased from 3 to 2

New Scoring Scheme

Description

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added

[New Scoring Scheme]

1/1/2019

Decreased from 3 to 3

Description

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added

[Oxytocin receptor knockout prairie voles generated by CRISPR/Cas9 editing show reduced preference for social novelty and exaggerated repetitive beh...2019]

10/1/2018

Decreased from 3 to 3

Description

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added

[No Association between Polymorphisms of Vitamin D and Oxytocin Receptor Genes and Autistic Spectrum Disorder in a Sample of Turkish Children.2018]

10/1/2017

Decreased from 3 to 3

Description

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added

[Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders.2017] [A functional polymorphism of the OXTR gene is associated with autistic traits in Caucasian and Asian populations.2017]

4/1/2017

Decreased from 3 to 3

Description

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added

1/1/2017

Decreased from 3 to 3

Description

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added

[ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin-AVPR1A, AVPR1B, and OXTR.2016] [Relationship of a common OXTR gene variant to brain structure and default mode network function in healthy humans.2016]

7/1/2016

Decreased from 3 to 3

Description

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added

[Variation in the oxytocin receptor gene (OXTR) is associated with differences in moral judgment.2016] [Prenatal stress exposure, oxytocin receptor gene (OXTR) methylation and child autistic traits: The moderating role of OXTR rs53576 genotype.2016]

1/1/2016

Decreased from 3 to 3

Description

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added

7/1/2015

Decreased from 3 to 3

Description

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added

1/1/2015

Decreased from 3 to 3

Description

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added

[Association study in siblings and case-controls of serotonin- and oxytocin-related genes with high functioning autism.2014] [Association between Genetic Variation in the Oxytocin Receptor Gene and Emotional Withdrawal, but not between Oxytocin Pathway Genes and Diagnosis ...2015]

10/1/2014

Decreased from 3 to 3

Description

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added

[Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome.2014]

7/1/2014

No data

Increased from No data to 3

Description

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. In addition, association has been found with social cognition and through methylation and expression data.

Reports Added

4/1/2014

No data

Increased from No data to 3

Description

A number of studies have focused on the genetic association of the OXTR gene with autism, including negative association. Cohorts and populations that have shown positive associations include AGRE, Chinese Han, Caucasian, Japanese, Irish, Portuguese, US and the United Kingdom. In addition, one study (Gregory et al., 2009) found a rare deletion in the OXTR gene in an autistic family. In addition, association has been found with social cognition and through methylation and expression data.

Krishnan Probability Score

Score 0.49255038812638

Ranking 4494/25841 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 5.7432273989359E-5

Ranking 13391/18225 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 0.92460741899387

Ranking 10026/18665 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

Larsen Cumulative Evidence Score

Score 43.25

Ranking 44/461 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.

Original Source

Zhang D Score

Score 0.21037770439889

Ranking 4106/20870 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

External PIN Data

BioGRID Human Protein Reference Database

Interaction Table

Interactor Symbol	Interactor Name	Interactor Organism	Interactor Type	Entrez ID	Uniprot ID
MIR21	microRNA 21	Human	Direct Regulation	406991	N/A
MIR451A	microRNA 451a	Human	Direct Regulation	574411
OXT	oxytocin, prepropeptide	Human	Protein Binding	5020	P01178

Human Gene Module / Chromosome 3 / OXTR

OXTRoxytocin receptor

SFARI Gene Score

Autism Reports / Total Reports

Rare Variants / Common Variants

Aliases

Associated Syndromes

Chromosome Band

Associated Disorders

Relevance to Autism

Molecular Function

External Links

Human

Mouse

SFARI Genomic Platforms

Reports related to OXTR (50 Reports)

Rare Variants (3)

Common Variants (43)

SFARI Gene score

Strong Candidate

Score Delta: Score remained at 2

criteria met

Strong Candidate

1/1/2021

Score remained at 2

Description

Reports Added

1/1/2020

Score remained at 2

Description

Reports Added

10/1/2019

Decreased from 3 to 2

New Scoring Scheme

Description

Reports Added

1/1/2019

Decreased from 3 to 3

Description

Reports Added

10/1/2018

Decreased from 3 to 3

Description

Reports Added

10/1/2017

Decreased from 3 to 3

Description

Reports Added

4/1/2017

Decreased from 3 to 3

Description

Reports Added

1/1/2017

Decreased from 3 to 3

Description

Reports Added

7/1/2016

Decreased from 3 to 3

Description

Reports Added

1/1/2016

Decreased from 3 to 3

Description

Reports Added

7/1/2015

Decreased from 3 to 3

Description

Reports Added

1/1/2015

Decreased from 3 to 3

Description

Reports Added

10/1/2014

Decreased from 3 to 3

Description

Reports Added

7/1/2014

Increased from No data to 3

Description

Reports Added