Evidence Detail for PLEKHA8

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Basic Information Top
Gene Symbol:PLEKHA8 ( DKFZp313M1034,DKFZp686J09164,FAPP2,MGC3358 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8
Band: 7p21-p11.2
Quick LinksEntrez ID:84725; OMIM: 608639; Uniprot ID:PKHA8_HUMAN; ENSEMBL ID: ENSG00000106086
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) 0 (0) 0 (0) 0 (0) 1 (1) 7 (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
O'Roak, 2012_1 human bloodASD Mutation screen
  • Subjects: 209 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
CNV Studies Top
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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