AutismKB 2.0

Evidence Details for OR2W3


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Basic Information Top
Gene Symbol:OR2W3 ( OR2W3P,OR2W8P,OST718 )
Gene Full Name: olfactory receptor, family 2, subfamily W, member 3
Band: 1q44
Quick LinksEntrez ID:343171; OMIM: NA; Uniprot ID:OR2W3_HUMAN; ENSEMBL ID: ENSG00000238243; HGNC ID: 15021
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OR2W3|343171|nucleotide
ATGGATGGAACCAATGGCAGCACCCAAACCCATTTCATCCTACTGGGATTCTCTGACCGACCCCATCTGGAGAGGATCCTCTTTGTGGTCATCCTGATCGCGTAC
CTCCTGACCCTCGTAGGCAACACCACCATCATCCTGGTGTCCCGGCTGGACCCCCACCTCCACACCCCCATGTACTTCTTCCTCGCCCACCTTTCCTTCCTGGAC
CTCAGTTTCACCACCAGCTCCATCCCCCAGCTGCTCTACAACCTTAATGGATGTGACAAGACCATCAGCTACATGGGCTGTGCCATCCAGCTCTTCCTGTTCCTG
GGTCTGGGTGGTGTGGAGTGCCTGCTTCTGGCTGTCATGGCCTATGACCGGTGTGTGGCTATCTGCAAGCCCCTGCACTACATGGTGATCATGAACCCCAGGCTC
TGCCGGGGCTTGGTGTCAGTGACCTGGGGCTGTGGGGTGGCCAACTCCTTGGCCATGTCTCCTGTGACCCTGCGCTTACCCCGCTGTGGGCACCACGAGGTGGAC
CACTTCCTGCGTGAGATGCCCGCCCTGATCCGGATGGCCTGCGTCAGCACTGTGGCCATCGAAGGCACCGTCTTTGTCCTGGCGGTGGGTGTTGTGCTGTCCCCC
TTGGTGTTTATCCTGCTCTCTTACAGCTACATTGTGAGGGCTGTGTTACAAATTCGGTCAGCATCAGGAAGGCAGAAGGCCTTCGGCACCTGCGGCTCCCATCTC
ACTGTGGTCTCCCTTTTCTATGGAAACATCATCTACATGTACATGCAGCCAGGAGCCAGTTCTTCCCAGGACCAGGGCATGTTCCTCATGCTCTTCTACAACATT
GTCACCCCCCTCCTCAATCCTCTCATCTACACCCTCAGAAACAGAGAGGTGAAGGGGGCACTGGGAAGGTTGCTTCTGGGGAAGAGAGAGCTAGGAAAGGAGTAA


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>OR2W3|343171|protein
MDGTNGSTQTHFILLGFSDRPHLERILFVVILIAYLLTLVGNTTIILVSRLDPHLHTPMYFFLAHLSFLDLSFTTSSIPQLLYNLNGCDKTISYMGCAIQLFLFL
GLGGVECLLLAVMAYDRCVAICKPLHYMVIMNPRLCRGLVSVTWGCGVANSLAMSPVTLRLPRCGHHEVDHFLREMPALIRMACVSTVAIEGTVFVLAVGVVLSP
LVFILLSYSYIVRAVLQIRSASGRQKAFGTCGSHLTVVSLFYGNIIYMYMQPGASSSQDQGMFLMLFYNIVTPLLNPLIYTLRNREVKGALGRLLLGKRELGKE


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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 (3) 1 (1) 0 (0) 1 (1) 0 (0) 2 (2) 0 (0) 0 (0) 5 (7)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Risch, 1999 USA microsatellite-based genomic screenPDD 90 - 90 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Kuwano, 2011_2 Japan Mother with ASD children 21
(100.00%)
---- 21
(100.00%)
2.15 Up 0.015
  • Platform: Agilent
  • ProbeSet: -
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE26415
  • Statistic Method: unpaired t test with Benjamini-Hochberg corrrection for multiple comparisons at the 0.05 FDR
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Dou Y, 2017 - 2361 230 Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

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