AutismKB 2.0

Evidence Details for OR51A2


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Basic Information Top
Gene Symbol:OR51A2 ( - )
Gene Full Name: olfactory receptor, family 51, subfamily A, member 2
Band: 11p15.4
Quick LinksEntrez ID:401667; OMIM: NA; Uniprot ID:O51A2_HUMAN; ENSEMBL ID: ENSG00000205496; HGNC ID: 14764
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OR51A2|401667|nucleotide
ATGTCCATTATCAACACATCATATGTTGAAATCACCACCTTCTTCTTGGTTGGGATGCCAGGGCTAGAATATGCACACATCTGGATCTCTATCCCCATCTGCAGC
ATGTATCTTATTGCTATTCTAGGAAATGGCACCATTCTTTTTATCATCAAGACAGAGCCCTCCTTGCATGGGCCCATGTACTATTTTCTTTCCATGTTGGCTATG
TCAGACTTGGGTTTGTCTTTATCATCTCTGCCCACTGTGTTAAGCATCTTCCTGTTCAATGCCCCTGAAACTTCTTCTAGTGCCTGCTTTGCCCAGGAATTCTTC
ATTCATGGATTCTCAGTACTGGAGTCCTCAGTCCTCCTGATCATGTCATTTGATAGATTCCTAGCCATCCACAATCCTCTGAGATACACCTCAATCCTGACAACT
GTCAGAGTTGCCCAAATAGGGATAGTATTCTCCTTTAAGAGCATGCTCCTGGTTCTTCCCTTCCCTTTCACTTTAAGAAGCTTGAGATATTGCAAGAAAAACCAA
TTATCCCATTCCTACTGTCTCCACCAGGATGTCATGAAGTTGGCCTGTTCTGACAACAGAATTGATGTTATCTATGGCTTTTTTGGAGCACTCTGCCTTATGGTA
GACTTTATTCTCATTGCTGTGTCTTACACCCTGATCCTCAAGACTGTACCGGGAATTGCATCCAAAAAGGAGGAGCTTAAGGCTCTCAATACTTGTGTTTCACAC
ATCTGTGCAGTGATCATCTTCTACCTGCCCATCATCAACCTGGCCGTTGTCCACCGCTTTGCCGGGCATGTCTCTCCCCTCATTAATGTTCTCATGGCAAATGTT
CTCCTACTTGTACCTCCGCTGATGAAACCAATTGTTTATTGTGTAAAAACTAAACAGATTAGAGTGAGAGTTGTAGCAAAATTGTGTCAATGGAAGATTTAA


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>OR51A2|401667|protein
MSIINTSYVEITTFFLVGMPGLEYAHIWISIPICSMYLIAILGNGTILFIIKTEPSLHGPMYYFLSMLAMSDLGLSLSSLPTVLSIFLFNAPETSSSACFAQEFF
IHGFSVLESSVLLIMSFDRFLAIHNPLRYTSILTTVRVAQIGIVFSFKSMLLVLPFPFTLRSLRYCKKNQLSHSYCLHQDVMKLACSDNRIDVIYGFFGALCLMV
DFILIAVSYTLILKTVPGIASKKEELKALNTCVSHICAVIIFYLPIINLAVVHRFAGHVSPLINVLMANVLLLVPPLMKPIVYCVKTKQIRVRVVAKLCQWKI


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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Fromer M, 2014 - - 94 De novo mutations in schizophrenia implicate synaptic networks.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018