AutismKB

Evidence Detail for SGCZ


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Basic Information Top
Gene Symbol:SGCZ ( MGC149397,ZSG1 )
Gene Full Name: sarcoglycan, zeta
Band: 8p22
Quick LinksEntrez ID:137868; OMIM: 608113; Uniprot ID:SGCZ_HUMAN; ENSEMBL ID: ENSG00000185053
Sequences Top
>SGCZ|137868|nucleotide
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>SGCZ|137868|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 (4) 1 (1) 0 (0) 0 (0) 4 (3)
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
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
Hu, 2009_1 mixed lymphoblastoid cell lines 21
(-)
autism with nonaffected sib pairsautism 17
(-)
0.71 Down -
  • Platform: a custom printed microarray containing 39,936 human PCR amplicon probes derived from cDNA clones purchased from Research Genetics (Invitrogen )
  • ProbeSet: -
  • RefSeq_ID/ EST: AI122714
  • GEO_ID: GSE15451
  • Statistic Method: one-class SAM by MeV
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
AutCNV0000264 8 8p21-23 gain 1 - CNVs Only Present In Patients; Papanikolaou, 2006
AutCNV0000680 8 8p21.2-p23.1 gain 1 - Overlapping/Recurrent CNVs; Ozgen, 2009
AutCNV0000704 8 8p22 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0003618 8 8p22 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003279 8 8p22 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003619 8 8p22 gain 1 - CNVs Only Present In Patients; Gai, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000032 8p22 8 D8S261 1.12 - - Monaco, 2001

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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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