AutismKB

Evidence Detail for STX1A


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Basic Information Top
Gene Symbol:STX1A ( HPC-1,P35-1,STX1,SYN1A )
Gene Full Name: syntaxin 1A (brain)
Band: 7q11.23
Quick LinksEntrez ID:6804; OMIM: 186590; Uniprot ID:STX1A_HUMAN; ENSEMBL ID: ENSG00000106089
Sequences Top
>STX1A|6804|nucleotide
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>STX1A|6804|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) 2 (5) 1 (1) 15 (6)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 5
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Nakamura, 2008_1 human lymphocyteASD RNA expression
  • Subjects: 12(age 21.4±2.31 yr)
  • Normal Controls: 13(22.3
  • Methods: quantitative reverse transcriptase polymerase chain reaction (qRT
  • Evidence Details: STX1A expression in the HFA group was significantly higher (p=0.001) than that of controls. Thus, we suggest a possible role of STX1A in the pathogenesis of HFA.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000132 7 7q11 loss 1 - Denovo CNVs; Jacquemont, 2006
AutCNV0003814 7 7q11.23 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0003815 7 7q11.23 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0004261 7 7q11.23 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004262 7 7q11.23 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004263 7 7q11.23 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004264 7 7q11.23 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004612 7 7q11.23 Gain 1 - Denovo CNVs; Malenfant, 2011
AutCNV0004632 7 7q11.23 Gain - - Cai, 2008
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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