Aliases: OR11-11P, OR52M3P,OR52M1
Chromosome No: 11
Chromosome Band: 11p15.4
Genetic Category: Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 2
Evidence score: 2
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.
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.