Human Gene Module / Chromosome 1 / OR2M4

OR2M4Olfactory receptor, family 2, subfamily M, member 4

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
1 / 1
Rare Variants / Common Variants
0 / 1
Aliases
OR2M4, HSHTPCRX18,  HTPCRX18,  OR1-55,  OST710,  TPCR100
Associated Syndromes
-
Chromosome Band
1q44
Associated Disorders
-
Relevance to Autism

A total of four SNPs within 100 kb of the OR2M4 gene showed association with ASD in a case-control analysis in the Taiwanese Han population (Kuo et al., 2015).

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.

SFARI Genomic Platforms
Reports related to OR2M4 (1 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population Kuo PH , et al. (2015) Yes -
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 - - - 26398136 Kuo PH , et al. (2015)
SFARI Gene score
2

Strong Candidate

A total of four SNPs within 100 kb of the OR2M4 gene showed association with ASD in a case-control analysis in the Taiwanese Han population (Kuo et al., 2015).

Score Delta: Score remained at 2

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
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2

Decreased from 3 to 2

Description

A total of four SNPs within 100 kb of the OR2M4 gene showed association with ASD in a case-control analysis in the Taiwanese Han population (Kuo et al., 2015).

10/1/2019
4
icon
3

Decreased from 4 to 3

New Scoring Scheme
Description

A total of four SNPs within 100 kb of the OR2M4 gene showed association with ASD in a case-control analysis in the Taiwanese Han population (Kuo et al., 2015).

Reports Added
[New Scoring Scheme]
10/1/2015
icon
4

Increased from to 4

Description

A total of four SNPs within 100 kb of the OR2M4 gene showed association with ASD in a case-control analysis in the Taiwanese Han population (Kuo et al., 2015).

Krishnan Probability Score

Score 0.49035106537269

Ranking 6156/25841 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 0.0002248777654079

Ranking 12642/18225 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 0.90943537907754

Ranking 7454/18665 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).
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