OR52M1Olfactory receptor, family 52, subfamily M, member 1
Autism Reports / Total Reports
3 / 3Rare Variants / Common Variants
2 / 0Aliases
OR52M1, OR11-11P, OR52M3P, OR52M1Associated Syndromes
-Chromosome Band
11p15.4Associated Disorders
-Relevance to Autism
This gene was identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (Sanders et al., 2015); among the variants identified in this gene was one de novo loss-of-function (LoF) variant.
Molecular Function
This gene encodes an olfactory receptor, which interacts with odorant molecules in the nose to initiate a neuronal response that triggers the perception of a smell.
External Links
SFARI Genomic Platforms
Reports related to OR52M1 (3 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Support | The contribution of de novo coding mutations to autism spectrum disorder | Iossifov I et al. (2014) | Yes | - |
2 | Primary | Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci | Sanders SJ , et al. (2015) | Yes | - |
3 | Support | - | Woodbury-Smith M et al. (2022) | Yes | - |
Rare Variants (2)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.244A>T | p.Lys82Ter | stop_gained | De novo | - | Simplex | 25363768 | Iossifov I et al. (2014) | |
c.461G>A | p.Gly154Asp | missense_variant | Unknown | - | - | 35205252 | Woodbury-Smith M et al. (2022) |
Common Variants
No common variants reported.
SFARI Gene score
Strong Candidate


This gene was identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of < 0.1 (Sanders et al., 2015); among the variants identified in this gene was one de novo loss-of-function (LoF) variant.
Score Delta: Score remained at 2
criteria met
See SFARI Gene'scoring criteriaWe 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.
10/1/2019

Decreased from 3 to 2
New Scoring Scheme
Description
This gene was identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of < 0.1 (Sanders et al., 2015); among the variants identified in this gene was one de novo loss-of-function (LoF) variant.
Reports Added
[New Scoring Scheme]10/1/2015

Increased from to 3
Description
This gene was identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (Sanders et al., 2015); among the variants identified in this gene was one de novo loss-of-function (LoF) variant.
Krishnan Probability Score
Score 0.44740613612277
Ranking 12481/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 4.6916455451095E-6
Ranking 14512/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.072770192954344
Ranking 55/18665 scored genes
[Show Scoring Methodology]