AutismKB 2.0

Evidence Details for OAS3


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Basic Information Top
Gene Symbol:OAS3 ( MGC133260,p100 )
Gene Full Name: 2'-5'-oligoadenylate synthetase 3, 100kDa
Band: 12q24.13
Quick LinksEntrez ID:4940; OMIM: 603351; Uniprot ID:OAS3_HUMAN; ENSEMBL ID: ENSG00000111331; HGNC ID: 8088
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OAS3|4940|nucleotide
ATGGACTTGTACAGCACCCCGGCCGCTGCGCTGGACAGGTTCGTGGCCAGAAGGCTGCAGCCGCGGAAGGAGTTCGTAGAGAAGGCGCGGCGCGCTCTGGGCGCC
CTGGCCGCTGCCCTGAGGGAGCGCGGGGGCCGCCTCGGTGCTGCTGCCCCGCGGGTGCTGAAAACTGTCAAGGGAGGCTCCTCGGGCCGGGGCACAGCTCTCAAG
GGTGGCTGTGATTCTGAACTTGTCATCTTCCTCGACTGCTTCAAGAGCTATGTGGACCAGAGGGCCCGCCGTGCAGAGATCCTCAGTGAGATGCGGGCATCGCTG
GAATCCTGGTGGCAGAACCCAGTCCCTGGTCTGAGACTCACGTTTCCTGAGCAGAGCGTGCCTGGGGCCCTGCAGTTCCGCCTGACATCCGTAGATCTTGAGGAC
TGGATGGATGTTAGCCTGGTGCCTGCCTTCAATGTCCTGGGTCAGGCCGGCTCCGGCGTCAAACCCAAGCCACAAGTCTACTCTACCCTCCTCAACAGTGGCTGC
CAAGGGGGCGAGCATGCGGCCTGCTTCACAGAGCTGCGGAGGAACTTTGTGAACATTCGCCCAGCCAAGTTGAAGAACCTAATCTTGCTGGTGAAGCACTGGTAC
CACCAGGTGTGCCTACAGGGGTTGTGGAAGGAGACGCTGCCCCCGGTCTATGCCCTGGAATTGCTGACCATCTTCGCCTGGGAGCAGGGCTGTAAGAAGGATGCT
TTCAGCCTAGCCGAAGGCCTCCGAACTGTCCTGGGCCTGATCCAACAGCATCAGCACCTGTGTGTTTTCTGGACTGTCAACTATGGCTTCGAGGACCCTGCAGTT
GGGCAGTTCTTGCAGCGGCAGCTTAAGAGACCCAGGCCTGTGATCCTGGACCCAGCTGACCCCACATGGGACCTGGGGAATGGGGCAGCCTGGCACTGGGATTTG
CTAGCCCAGGAGGCAGCATCCTGCTATGACCACCCATGCTTTCTGAGGGGGATGGGGGACCCAGTGCAGTCTTGGAAGGGGCCGGGCCTTCCACGTGCTGGATGC
TCAGGTTTGGGCCACCCCATCCAGCTAGACCCTAACCAGAAGACCCCTGAAAACAGCAAGAGCCTCAATGCTGTGTACCCAAGAGCAGGGAGCAAACCTCCCTCA
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>OAS3|4940|protein
MDLYSTPAAALDRFVARRLQPRKEFVEKARRALGALAAALRERGGRLGAAAPRVLKTVKGGSSGRGTALKGGCDSELVIFLDCFKSYVDQRARRAEILSEMRASL
ESWWQNPVPGLRLTFPEQSVPGALQFRLTSVDLEDWMDVSLVPAFNVLGQAGSGVKPKPQVYSTLLNSGCQGGEHAACFTELRRNFVNIRPAKLKNLILLVKHWY
HQVCLQGLWKETLPPVYALELLTIFAWEQGCKKDAFSLAEGLRTVLGLIQQHQHLCVFWTVNYGFEDPAVGQFLQRQLKRPRPVILDPADPTWDLGNGAAWHWDL
LAQEAASCYDHPCFLRGMGDPVQSWKGPGLPRAGCSGLGHPIQLDPNQKTPENSKSLNAVYPRAGSKPPSCPAPGPTGAASIVPSVPGMALDLSQIPTKELDRFI
QDHLKPSPQFQEQVKKAIDIILRCLHENCVHKASRVSKGGSFGRGTDLRDGCDVELIIFLNCFTDYKDQGPRRAEILDEMRAQLESWWQDQVPSLSLQFPEQNVP
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (3)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
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