AutismKB 2.0

Evidence Details for OR52A1


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Basic Information Top
Gene Symbol:OR52A1 ( HPFH1OR )
Gene Full Name: olfactory receptor, family 52, subfamily A, member 1
Band: 11p15.4
Quick LinksEntrez ID:23538; OMIM: NA; Uniprot ID:O52A1_HUMAN; ENSEMBL ID: ENSG00000182070; HGNC ID: 8318
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OR52A1|23538|nucleotide
ATGTCCATTTCCAACATCACAGTCTACATGCCCTCTGTGTTGACACTAGTAGGGATCCCAGGCCTAGAATCTGTGCAGTGCTGGATTGGGATTCCATTCTGTGCC
ATTTATCTCATTGCTATGATTGGAAATTCCTTGCTTCTGAGCATCATCAAATCTGAGCGCAGTCTCCATGAGCCCTTGTACATTTTCTTAGGCATGCTAGGAGCC
ACAGACATTGCACTTGCTAGCAGCATTATGCCAAAGATGCTTGGAATATTCTGGTTTAATGTGCCTGAAATCTATTTTGATTCCTGCTTGCTTCAAATGTGGTTC
ATCCACACATTGCAGGGTATAGAGTCAGGCATCCTTGTGGCCATGGCCCTGGACCGTTATGTGGCCATCTGTTATCCACTAAGACATGCCAACATCTTCACCCAC
CAGCTTGTCATTCAGATAGGAACTATGGTCGTACTCAGGGCTGCTATTCTTGTAGCCCCATGCCTAGTACTGATAAAGTGCCGGTTTCAATTTTATCACACAACA
GTCATCTCCCACTCCTACTGTGAGCATATGGCCATTGTGAAACTAGCAGCAGCAAATGTTCAAGTCAACAAAATCTATGGTTTGTTTGTGGCCTTCACTGTAGCA
GGATTTGACCTCACATTCATCACATTGTCCTACATCCAGATATTTATCACAGTTTTTCGTTTGCCCCAGAAGGAGGCTAGGTTTAAAGCATTCAATACCTGCATT
GCTCACATCTGTGTCTTCCTCCAGTTCTACCTCCTTGCCTTCTTCTCCTTCTTCACACATAGGTTTGGGTCTCACATCTCCCCTTATATCCATATTCTCTTTTCT
AGCATTTACTTGCTGGTCCCTCCATTTCTCAATCCACTTGTCTATGGTGCAAAGACCACACAGATTCGCATTCATGTGGTAAAAATGTTCTGTTCATAA


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>OR52A1|23538|protein
MSISNITVYMPSVLTLVGIPGLESVQCWIGIPFCAIYLIAMIGNSLLLSIIKSERSLHEPLYIFLGMLGATDIALASSIMPKMLGIFWFNVPEIYFDSCLLQMWF
IHTLQGIESGILVAMALDRYVAICYPLRHANIFTHQLVIQIGTMVVLRAAILVAPCLVLIKCRFQFYHTTVISHSYCEHMAIVKLAAANVQVNKIYGLFVAFTVA
GFDLTFITLSYIQIFITVFRLPQKEARFKAFNTCIAHICVFLQFYLLAFFSFFTHRFGSHISPYIHILFSSIYLLVPPFLNPLVYGAKTTQIRIHVVKMFCS


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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 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top