AutismKB 2.0

Evidence Details for OR2M4


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Basic Information Top
Gene Symbol:OR2M4 ( HSHTPCRX18,HTPCRX18,OR1-55,OST710,TPCR100 )
Gene Full Name: olfactory receptor, family 2, subfamily M, member 4
Band: 1q44
Quick LinksEntrez ID:26245; OMIM: NA; Uniprot ID:OR2M4_HUMAN; ENSEMBL ID: ENSG00000171180; HGNC ID: 8270
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OR2M4|26245|nucleotide
ATGGTGTGGGAAAACCAGACCTTCAACTCCATCTTCATCCTGCTGGGAATCTTCAATCACAGTCCCACCCACACCTTCCTTTTTTCTCTGGTCCTGGGCATCTTC
TCACTGGCATTGATGGAAAATATTTCCATGGTTCTCCTCATCTACATAGAGAAACAGCTCCACACCCCCATGTACTTCCTCCTCAGTCAACTGTCCCTTATGGAC
CTCATGCTCATCTGCACCACTCTACCCAAGATGATCTTCAGCTACTTGTCTGGGAAGAAATCTATCTCTCTGGCAGGTTGTGGAACTCAGATATTCTTCTATGTG
TCCCTGCTTGGAGCTGAATGTTTCTTGTTGGCTGTCATGGCTTATGACCGCTATGTGGCTATATGTCACCCTCTTCAGTACACCATCCTCATGAATCCGAAACTC
TGTGTCTTCATGACTGTTGCTTCCTGGACCTTGGGGTCTCTTGATGGGATCATAGTGCTTGCAGCTGTCCTGTCATTTTCTTACTGCAGCTCTCTGGAAATTCAT
CACTTTTTCTGTGATGTTGCTGCCCTTTTACCTCTATCCTGCACAGAAACATCTGCATTTGAAAGACTACTTGTCATTTGTTGTGTGGTAATGCTAATCTTTCCA
GTTTCAGTTATCATACTTTCCTATTCCCATGTCCTTCGAGCCGTCATCCACATGGGCTCTGGGGAAAGTCGTCGCAAGGCCTTCACTACCTGCTCCTCCCACCTG
TCTGTGGTCGGACTCTACTACGGTGCTGCTATGTTCATGTACATGAGACCAGCTTCTAAACATACGCCAGACCAGGACAAGATGGTGTCGGCCTTCTACACTATT
CTCACCCCTATGCTGAACCCTCTCATTTATAGCCTCCGCAACAAAGAAGTGTTCAGGGCACTACAGAAGGTACTGAAGAAAAGAAAGTTAATATGA


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>OR2M4|26245|protein
MVWENQTFNSIFILLGIFNHSPTHTFLFSLVLGIFSLALMENISMVLLIYIEKQLHTPMYFLLSQLSLMDLMLICTTLPKMIFSYLSGKKSISLAGCGTQIFFYV
SLLGAECFLLAVMAYDRYVAICHPLQYTILMNPKLCVFMTVASWTLGSLDGIIVLAAVLSFSYCSSLEIHHFFCDVAALLPLSCTETSAFERLLVICCVVMLIFP
VSVIILSYSHVLRAVIHMGSGESRRKAFTTCSSHLSVVGLYYGAAMFMYMRPASKHTPDQDKMVSAFYTILTPMLNPLIYSLRNKEVFRALQKVLKKRKLI


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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 (0) 0 (0) 0 (1) 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
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
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