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
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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) 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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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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