AutismKB

Evidence Detail for SLC1A1


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Basic Information Top
Gene Symbol:SLC1A1 ( EAAC1,EAAT3 )
Gene Full Name: solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
Band: 9p24
Quick LinksEntrez ID:6505; OMIM: 133550; Uniprot ID:EAA3_HUMAN; ENSEMBL ID: ENSG00000106688
Sequences Top
>SLC1A1|6505|nucleotide
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>SLC1A1|6505|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) 1 (2) 0 (0) 5 (3)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 1
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Kantojarvi, 2010_1 Finland 6 (detail) 175
(21.14%)
ASD -
-
- 216
(50.00%)
50
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000084 9 9p13.3-24.3 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000726 9 9p24.1-p24.2 gain 1 - CNVs Only Present In Patients; Bremer, 2011
AutCNV0002711 9 9p24.2 loss 1 - maternal Pinto, 2010
Linkage Studies Top

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  (e.g. CDH8)

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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