Evidence Detail for AP1S2

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Basic Information Top
Gene Symbol:AP1S2 ( MGC:1902,MRX59,SIGMA1B )
Gene Full Name: adaptor-related protein complex 1, sigma 2 subunit
Band: Xp22.2
Quick LinksEntrez ID:8905; OMIM: 300629; Uniprot ID:AP1S2_HUMAN; ENSEMBL ID: ENSG00000182287
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 2 (0)
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 59 (300630)
DescriptionX-linked ID and autism syndrome characterized by hypotonia, speech delay, aggressive behavior, and brain calcifications
LevelLevel 2: The gene has been reported in a single family with 2-3 males with ASD/autistic features. Additional evidences are needed.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000671 X Xp22.1-p22.3 loss 1 - CNVs Only Present In Patients; Vazna, 2010
AutCNV0000713 X Xp11.2-p22.33 gain 1 - CNVs Only Present In Patients; Edens, 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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