Evidence Detail for ARX

View Evidences View Annotations
Basic Information Top
Gene Symbol:ARX ( CT121,ISSX,MRX29,MRX32,MRX33,MRX36,MRX38,MRX43,MRX54,MRX76,MRX87,MRXS1,PRTS )
Gene Full Name: aristaless related homeobox
Band: Xp21
Quick LinksEntrez ID:170302; OMIM: 300382; Uniprot ID:ARX_HUMAN; ENSEMBL ID: ENSG00000004848
Sequences Top
Show »

Show »

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) 2 (3) 16 (3)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
OMIMMental retardation, X-linked 36/43/54 (300419)
DescriptionLarge spectrum of ID phenotypes, including X-linked lissencephaly and abnormal genitalia, West syndrome, Partington syndrome, and non-syndromic ID
Reference(s)16523516; 15200506; 19085879; 12376946;
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
Turner, 2002_1 human ---AD case report
  • Subjects: 1
  • Normal Controls: -
  • Methods: -
  • Evidence Details: 24-bp duplication (428-45 1dup(24bp)) in the ARX gene was found in one individual who had autism and two who had autistic behavior, one of whom had epilepsy
Chaste, 2007_1 human blood--ASD genetics: mutation screen
  • Subjects: 226 male
  • Normal Controls: -
  • Methods: sequencing
  • Evidence Details: No ARX mutations were identified in any of the patients tested.
Piton, 2010_1 human bloodASD genetics: 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 116 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
AutCNV0000713 X Xp11.2-p22.33 gain 1 - CNVs Only Present In Patients; Edens, 2011
Linkage Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Quick Search:

  (e.g. NLGN4X)

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
  • Click to Download Data

Registered with NIF