AutismKB

Evidence Detail for PEBP4


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Basic Information Top
Gene Symbol:PEBP4 ( CORK-1,CORK1,GWTM1933,MGC22776,PEBP-4,PRO4408,hPEBP4 )
Gene Full Name: phosphatidylethanolamine-binding protein 4
Band: 8p21.3
Quick LinksEntrez ID:157310; OMIM: 612473; Uniprot ID:PEBP4_HUMAN; ENSEMBL ID: ENSG00000134020
Sequences Top
>PEBP4|157310|nucleotide
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>PEBP4|157310|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 (3) 1 (1) 0 (0) 0 (0) 3 (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
Large Scale Expression Studies Top
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
AutCNV0000700 8 8p21 Loss - - CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000021 8p21.3 8 D8S1786 1.43 - - Bailey, 1998

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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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