AutismKB 2.0

Evidence Details for OR2AT4


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Basic Information Top
Gene Symbol:OR2AT4 ( OR11-265 )
Gene Full Name: olfactory receptor, family 2, subfamily AT, member 4
Band: 11q13.4
Quick LinksEntrez ID:341152; OMIM: NA; Uniprot ID:O2AT4_HUMAN; ENSEMBL ID: ENSG00000171561; HGNC ID: 19620
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OR2AT4|341152|nucleotide
ATGGATGCCACAGCCTGTAATGAATCAGTGGATGGCTCACCCGTCTTCTATCTATTGGGCATCCCCTCTCTGCCAGAGACCTTCTTCCTCCCTGTGTTTTTTATT
TTCCTCCTCTTCTACCTTCTCATCCTGATGGGTAATGCCCTGATCCTGGTGGCCGTGGTGGCAGAGCCCAGCCTCCACAAGCCCATGTACTTCTTTCTGATCAAT
CTCTCCACCTTGGACATCCTTTTCACCACAACCACTGTCCCCAAGATGCTGTCCTTATTCTTGCTTGGGGACCGCTTCCTCAGCTTTTCTTCCTGCTTACTGCAG
ATGTACCTCTTCCAAAGTTTTACATGTTCAGAAGCCTTCATCCTGGTGGTCATGGCCTATGACCGCTATGTGGCTATCTGCCACCCACTGCACTACCCTGTCCTC
ATGAACCCACAGACCAATGCTACCTTGGCAGCCAGTGCCTGGCTAACTGCCCTCCTCCTGCCCATCCCAGCAGTAGTAAGGACCTCCCAGATGGCATATAACAGC
ATTGCCTACATCTACCACTGCTTCTGTGATCATCTGGCTGTGGTCCAGGCCTCCTGCTCTGACACCACCCCCCAGACCCTCATGGGCTTCTGCATCGCCATGGTG
GTGTCCTTCCTCCCCCTTCTCCTGGTGCTTCTCTCCTATGTCCACATCCTGGCCTCAGTGCTTCGCATCAGTTCCCTAGAAGGACGGGCAAAAGCCTTCTCCACC
TGCAGCTCCCACCTTCTGGTCGTGGGCACCTACTACTCATCTATTGCCATAGCCTACGTGGCCTACAGGGCTGACCTGCCCCTTGACTTCCATATCATGGGCAAT
GTGGTATATGCCATTCTCACACCAATTCTCAACCCCCTCATTTACACGCTGAGAAACAGGGATGTAAAGGCAGCCATCACCAAAATCATGTCTCAAGACCCAGGC
TGTGACAGGAGCATTTGA

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>OR2AT4|341152|protein
MDATACNESVDGSPVFYLLGIPSLPETFFLPVFFIFLLFYLLILMGNALILVAVVAEPSLHKPMYFFLINLSTLDILFTTTTVPKMLSLFLLGDRFLSFSSCLLQ
MYLFQSFTCSEAFILVVMAYDRYVAICHPLHYPVLMNPQTNATLAASAWLTALLLPIPAVVRTSQMAYNSIAYIYHCFCDHLAVVQASCSDTTPQTLMGFCIAMV
VSFLPLLLVLLSYVHILASVLRISSLEGRAKAFSTCSSHLLVVGTYYSSIAIAYVAYRADLPLDFHIMGNVVYAILTPILNPLIYTLRNRDVKAAITKIMSQDPG
CDRSI

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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
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