AutismKB 2.0

Evidence Details for OR2M3


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Basic Information Top
Gene Symbol:OR2M3 ( OR1-54,OR2M3P,OR2M6,OST003 )
Gene Full Name: olfactory receptor, family 2, subfamily M, member 3
Band: 1q44
Quick LinksEntrez ID:127062; OMIM: NA; Uniprot ID:OR2M3_HUMAN; ENSEMBL ID: ENSG00000228198; HGNC ID: 8269
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OR2M3|127062|nucleotide
ATGGCAAGGGAGAATTCGACCTTCAACTCCGACTTCATCCTCCTGGGAATCTTCAATCACAGCCCCACCCACACCTTCCTCTTCTTTCTGGTCCTGGCCATCTTT
TCAGTGGCCTTCATGGGAAACTCTGTCATGGTTCTCCTCATCTACCTGGACACCCAGCTCCACACCCCCATGTACCTCCTCCTCAGCCAACTGTCCCTCATGGAC
CTCATGCTCATCTGCACCACCGTACCCAAGATGGCCTTCAACTACCTGTCTGGCAGCAAGTCCATTTCTATGGCTGGTTGTGCCACACAAATTTTCTTCTATACA
TCACTGCTTGGCTCTGAGTGCTTTCTTTTGGCTGTTATGGCTTATGACCGCTACACTGCCATTTGCCACCCTCTAAGATACACCAATCTCATGAGCCCTAAAATT
TGTGGACTTATGACTGCCTTTTCCTGGATCCTGGGCTCTACGGATGGAATTATTGATGTTGTAGCAACATTTTCCTTCTCCTACTGTGGGTCTCGGGAAATAGCC
CACTTCTTCTGTGACTTCCCCTCCCTACTAATCCTCTCATGCAGTGACACATCAATATTTGAAAAGATTCTTTTCATCTGCTGTATAGTAATGATTGTTTTCCCT
GTTGCAATCATCATTGCTTCCTATGCTCGAGTTATCCTGGCTGTCATTCACATGGGATCTGGAGAGGGTCGTCGCAAAGCTTTTACTACTTGTTCCTCTCACCTC
TTGGTGGTGGGAATGTACTATGGAGCAGCTTTGTTCATGTACATACGGCCCACATCTGATCGCTCCCCAACACAGGACAAGATGGTGTCTGTATTCTACACCATC
CTCACTCCCATGTTGAATCCCCTCATCTACAGCCTCCGCAACAAGGAGGTGACCAGAGCATTCATGAAGATCTTAGGAAAGGGCAAGTCTGGAGAGTGA


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>OR2M3|127062|protein
MARENSTFNSDFILLGIFNHSPTHTFLFFLVLAIFSVAFMGNSVMVLLIYLDTQLHTPMYLLLSQLSLMDLMLICTTVPKMAFNYLSGSKSISMAGCATQIFFYT
SLLGSECFLLAVMAYDRYTAICHPLRYTNLMSPKICGLMTAFSWILGSTDGIIDVVATFSFSYCGSREIAHFFCDFPSLLILSCSDTSIFEKILFICCIVMIVFP
VAIIIASYARVILAVIHMGSGEGRRKAFTTCSSHLLVVGMYYGAALFMYIRPTSDRSPTQDKMVSVFYTILTPMLNPLIYSLRNKEVTRAFMKILGKGKSGE


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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 1 (1) 0 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 6 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
No Evidence.
Case Control Based Association Studies: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
MIXED/OTHERS
Kuo PH, 2015_1 Discovery Affymetrix SNP array 6.0 597
(-)
ASD -
-
- 1595
(-)
-
-
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 - - - - -
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
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
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