AutismKB 2.0

Evidence Details for OR4A16


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Basic Information Top
Gene Symbol:OR4A16 ( OR11-117,OR4A16Q )
Gene Full Name: olfactory receptor, family 4, subfamily A, member 16
Band: 11q11
Quick LinksEntrez ID:81327; OMIM: NA; Uniprot ID:O4A16_HUMAN; ENSEMBL ID: ENSG00000181961; HGNC ID: 15153
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OR4A16|81327|nucleotide
ATGAGACCAAGCAGCAATGTTACAGAATTTGTCCTCCTGGGCCTCACTCAAGATCCTGATGTGAAAAAAACATTATTTGTCATGTTTTTACTCATATACATTGTG
ACAATGGTGGGAAACCTCCTCATTTGGGTGACTACTATTGGCAGCCCCTCCTTGGGCTCCCTAATGTACTTCTTCCTTGCCTACTTGTCACTTATGGATGCCATA
TATTCCACTGCCATGTCACCCAAATTGATGATAGACTTACTCTGTGATAAAATCGCTATTTCCTTGTCAGCTTGCATGGGTCAGCTCTTCATAGAACACTTACTT
GGTGGTGCAGAGGTCTTCCTTTTGGTGGTGATGGCCTATGATCGCTATGTGGCTATCTCTAAGCCGCTGCACTATTTGAACATCATGAATCGACTGGTTTGCATC
CTTCTGTTGGTGGTGGCCATGATTGGAGGTTTTGTGCACTCTGTGGTTCAAATTGTCTTTCTGTACAGTCTACCAATCTGTGGCCCCAATGTTATTGACCACTCT
GTCTGTGACATGTACCCATTGTTGGAACTGTTGTGCCTTGACACCTACTTTATAGGACTCACTGTGGTTGCCAATGGTGGAATAATTTGTATGGTCATCTTTACC
TTTCTGCTAATCTCCTGTGGAGTCATCCTAAACTTCCTTAAAACTTACAGTCAGGAAGAGAGGCATAAAGCCCTGCCTACCTGCATCTCCCACATCATTGTGGTT
GCCCTCGTTTTTGTTCCCTGTATTTTTATGTATGTTAGACCCGTTTCCAACTTTCCCTTTGATAAATTAATGACTGTGTTTTATTCAATTATCACACTCATGTTG
AATCCTTTAATATACTCGTTGAGACAATCAGAGATGAAAAATGCTATGAAAAATCTCTGGTGTGAAAAGTTAAGTATAGTTAGAAAAAGAGTATCTCCCACACTG
AACATATTTATTCCTAGTTCTAAGGCAACAAATAGGCGGTAA

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>OR4A16|81327|protein
MRPSSNVTEFVLLGLTQDPDVKKTLFVMFLLIYIVTMVGNLLIWVTTIGSPSLGSLMYFFLAYLSLMDAIYSTAMSPKLMIDLLCDKIAISLSACMGQLFIEHLL
GGAEVFLLVVMAYDRYVAISKPLHYLNIMNRLVCILLLVVAMIGGFVHSVVQIVFLYSLPICGPNVIDHSVCDMYPLLELLCLDTYFIGLTVVANGGIICMVIFT
FLLISCGVILNFLKTYSQEERHKALPTCISHIIVVALVFVPCIFMYVRPVSNFPFDKLMTVFYSIITLMLNPLIYSLRQSEMKNAMKNLWCEKLSIVRKRVSPTL
NIFIPSSKATNRR

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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
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