AutismKB 2.0

Annotation 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; HGNC ID: 3776
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Mental retardation, X-linked, FRAXE type
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D008070 Lipopolysaccharides Lipopolysaccharides results in decreased expression of AFF2 mRNAdecreases expression 12057914
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury Lipopolysaccharides 4.7311850527 18653653
MESH:D019446 Endotoxemia Lipopolysaccharides 5.4817637181 15328337 15821434
MESH:D005334 Fever Lipopolysaccharides 4.5911852909 9205823
MESH:D006463 Hemolytic-Uremic Syndrome Lipopolysaccharides 4.9616366002
MESH:D007249 Inflammation Lipopolysaccharides 3.109205823 12878042 17237260 17963957 17255318
MESH:D019189 Iron Metabolism Disorders Lipopolysaccharides 5.3317255318
MESH:D007970 Leukopenia Lipopolysaccharides 5.7915821434
MESH:D008106 Liver Cirrhosis, Experimental Lipopolysaccharides 2.2712878042
MESH:D055370 Lung Injury Lipopolysaccharides 4.9121114838
OMIM:309548 MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE marker/mechanism
MESH:D011014 Pneumonia Lipopolysaccharides 5.6412224865 11605937
MESH:D012130 Respiratory Hypersensitivity Lipopolysaccharides 4.0610835634
MESH:D013921 Thrombocytopenia Lipopolysaccharides 4.7415821434
Pathway ID Pathway Name
KEGG:00020 Citrate cycle (TCA cycle)
KEGG:01100 Metabolic pathways
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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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


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