AutismKB

Evidence Detail for GFAP


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Basic Information Top
Gene Symbol:GFAP ( FLJ45472 )
Gene Full Name: glial fibrillary acidic protein
Band: 17q21
Quick LinksEntrez ID:2670; OMIM: 137780; Uniprot ID:GFAP_HUMAN; ENSEMBL ID: ENSG00000131095
Sequences Top
>GFAP|2670|nucleotide
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>GFAP|2670|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) 2 (2) 1 (1) 0 (0) 0 (0) 1 (1) 11 (3)
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
Fatemi, 2011_1 human brain--autism expression level
  • Subjects: 20
  • Normal Controls: 10
  • Methods: western blot
  • Evidence Details: We observed significantly reduced levels of protein for FMRP in adults with autism, significantly increased levels of protein for mGluR5 in children with autism and significantly increased levels of GFAP in adults and children with autism. We found no change in expression of GABRb3.
Large Scale Expression Studies Top
Microarray Studies: 2
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Purcell, 2001_1 America cerebellum 4
(-)
-autism 4
(-)
1.52 Up -
  • Platform: Atlas Human Neurobiology array (Clontech Laboratories, Palo Alto, CA)
  • ProbeSet: -
  • RefSeq_ID/ EST: J04569
  • GEO_ID: -
  • Statistic Method: ratio of autism/control
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.57365 Up 0.52772
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1697176
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000690 17 17q21.31 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
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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