AutismKB

Evidence Detail for AGAP1


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Basic Information Top
Gene Symbol:AGAP1 ( CENTG2,GGAP1,KIAA1099,MGC71657 )
Gene Full Name: ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
Band: 2q37
Quick LinksEntrez ID:116987; OMIM: 608651; Uniprot ID:AGAP1_HUMAN; ENSEMBL ID: ENSG00000157985
Sequences Top
>AGAP1|116987|nucleotide
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>AGAP1|116987|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) No 0 (0) 0 (0) 1 (3) 0 (0) 0 (0) 1 (1) 9 (1)
Syndromic Autism Gene Top
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
Wassink, 2005_1 human bloodautism genetics: mutation screen
  • Subjects: 199
  • Normal Controls: 160
  • Methods: single-strand conformational polymorphism (SSCP) analysis
  • Evidence Details: Sixteen variants were identified: four non-synonymous and six synonymous coding sequence variants, and six intronic variants.
Wassink, 2005_1 human bloodautism genetics: linkage analysis
  • Subjects: 199
  • Normal Controls: 160
  • Methods: linkage analysis
  • Evidence Details: Two-point linkage analyses revealed, under the recessive model, strong evidence in favor of linkage at two markers: D2S1397 and CENTG2.32112
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000002 2 2q37.2-q37.3 loss 1 - Denovo CNVs; Sebat, 2007
AutCNV0002414 2 2q37.2 loss 1 - maternal Pinto, 2010
AutCNV0002415 2 2q37.2 gain 1 - maternal Pinto, 2010
AutCNV0004213 2 2q37.2-q37.3 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
Linkage Studies Top

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  (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
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