AutismKB

Evidence Detail for AFF2


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Basic Information Top
Gene Symbol:AFF2 ( FMR2,FRAXE,MRX2,OX19 )
Gene Full Name: AF4/FMR2 family, member 2
Band: Xq28
Quick LinksEntrez ID:2334; OMIM: 300806; Uniprot ID:AFF2_HUMAN; ENSEMBL ID: ENSG00000155966
Sequences Top
>AFF2|2334|nucleotide
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>AFF2|2334|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 1 (1) 9 (1)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMMental retardation, X-linked, FRAXE type (309548)
DescriptionFragile X mental retardation 2 (FRAXE)
Reference(s)9034011; 9032643; 9602188;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Piton, 2010_1 human bloodASD mutation screen
  • Subjects: 142( 122 males and 20 females)
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: Exonic variants identified during the the screening of the 111 X-linked synapic genes
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0004544 X Xq28 loss - - CNVs Only Present In Patients; Nord, 2011
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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