AutismKB

Evidence Detail for STXBP1


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Basic Information Top
Gene Symbol:STXBP1 ( FLJ37475,MUNC18-1,NSEC1,P67,RBSEC1,UNC18 )
Gene Full Name: syntaxin binding protein 1
Band: 9q34.1
Quick LinksEntrez ID:6812; OMIM: 602926; Uniprot ID:STXB1_HUMAN; ENSEMBL ID: ENSG00000136854
Sequences Top
>STXBP1|6812|nucleotide
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>STXBP1|6812|protein
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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) 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
Neale, 2012_1 human bloodASD Mutation screen
  • Subjects: 175 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
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
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.746771 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1728747
  • 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.
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.715846 Down 1.1752
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2414878
  • 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.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)
-autism 6
(0.00%)
0.850226 Down 0.23231
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_2414878
  • 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
AutCNV0000545 9 9q33.3-34.11 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000546 9 9q33.3-34.11 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
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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