AutismKB

Evidence Detail for PRKCA


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Basic Information Top
Gene Symbol:PRKCA ( AAG6,MGC129900,MGC129901,PKC-alpha,PKCA,PRKACA )
Gene Full Name: protein kinase C, alpha
Band: 17q22-q23.2
Quick LinksEntrez ID:5578; OMIM: 176960; Uniprot ID:KPCA_HUMAN; ENSEMBL ID: ENSG00000154229
Sequences Top
>PRKCA|5578|nucleotide
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>PRKCA|5578|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) 0 (0) 1 (2) 0 (0) 0 (0) 1 (1) 9 (2)
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
O'Roak, 2012_1 human bloodASD Mutation screen
  • Subjects: 209 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000893 17 17q24.2 loss 1 - maternal Pinto, 2010
AutCNV0002136 17 17q24.2 gain 1 - paternal Pinto, 2010
AutCNV0003735 17 17q24.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003736 17 17q24.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
Linkage Studies Top

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  (e.g. NLGN4X)

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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