AutismKB

Evidence Detail for GBE1


View Evidences View Annotations
Basic Information Top
Gene Symbol:GBE1 ( GBE )
Gene Full Name: glucan (1,4-alpha-), branching enzyme 1
Band: 3p12.3
Quick LinksEntrez ID:2632; OMIM: 607839; Uniprot ID:GLGB_HUMAN; ENSEMBL ID: ENSG00000114480
Sequences Top
>GBE1|2632|nucleotide
Show »

>GBE1|2632|protein
Show »

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) 1 (1) 0 (0) 0 (0) 0 (0) 1 (1) 8 (2)
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
Casey, 2011_1 human bloodASD Homozygous Haplotye mapping
  • Subjects: 2584 trios
  • Normal Controls: -
  • Methods: Illumina 1M/1Mduo Genechip
  • Evidence Details: Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.41).
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Baron, 2006_1 America human EBV-transformed lymphoblastoid cell lines 3
(33.33%)
-autism 3
(33.33%)
1.69 Up 0.02
  • Platform: Human Genome GeneChip U95Av2 (HG-U95Av2, Affymetrix Inc., Santa Clara, CA)
  • ProbeSet: 32643_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: t-test using the bootstrap method, food changes
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
Linkage Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Quick Search:


  (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
  • Click to Download Data

Registered with NIF