AutismKB

Evidence Detail for PRKCE


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Basic Information Top
Gene Symbol:PRKCE ( MGC125656,MGC125657,PKCE,nPKC-epsilon )
Gene Full Name: protein kinase C, epsilon
Band: 2p21
Quick LinksEntrez ID:5581; OMIM: 176975; Uniprot ID:KPCE_HUMAN; ENSEMBL ID: ENSG00000171132
Sequences Top
>PRKCE|5581|nucleotide
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>PRKCE|5581|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) 2 (2) 1 (3) 0 (0) 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)
ASIAN
Cho, 2011_1 - 2 (detail) 42 42
(-)
ASD 77.7±22.6 months
(49-149) months
46.2±12.2
(31-65)
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: 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%)
0.7152 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1717799
  • 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%)
0.777998 Down 0.100372
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1717799
  • 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
AutCNV0000203 2 2p21 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0003480 2 2p21 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003481 2 2p21 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0004042 2 2p21 gain 1 1 CNVs Only Present In Patients; Levy, 2011
Linkage Studies Top

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  (e.g. CDH8)

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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