AutismKB

Evidence Detail for SPATA13


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Basic Information Top
Gene Symbol:SPATA13 ( ARHGEF29,ASEF2,FLJ31208,FLJ35435,MGC129988,MGC129989 )
Gene Full Name: spermatogenesis associated 13
Band: 13q12.12
Quick LinksEntrez ID:221178; OMIM: 613324; Uniprot ID:SPT13_HUMAN; ENSEMBL ID: ENSG00000182957
Sequences Top
>SPATA13|221178|nucleotide
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>SPATA13|221178|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 (1) 1 (1) 1 (1) 1 (1) 0 (0) 1 (1) 11 (4)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Iossifov, 2012_1 human bloodASD Mutation screen
  • Subjects: 343 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: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
(35.00%)
-AD 22
(13.64%)
1.17 Up 0.0123
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_1742824
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
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
AutCNV0000044 13 13q12.12 gain 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000154 13q12.11-q12.3 13 rs6490970 1.93 - - Allen-Brady, 2010

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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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