AutismKB

Evidence Detail for PLD5


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Basic Information Top
Gene Symbol:PLD5 ( FLJ40773,MGC120565,MGC120566,MGC120567,PLDC )
Gene Full Name: phospholipase D family, member 5
Band: 1q43
Quick LinksEntrez ID:200150; OMIM: ; Uniprot ID:PLD5_HUMAN; ENSEMBL ID: ENSG00000180287
Sequences Top
>PLD5|200150|nucleotide
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>PLD5|200150|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 1 (2) 0 (0) 1 (3) 1 (1) 0 (0) 0 (0) 9 (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: 2
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Anney, 2010_3 Discovery 6 (detail) 897 909
(-)
ASD -
-
-
-
Anney, 2010_4 Replication 6 (detail) 476 702
(-)
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
AutCNV0001187 1 1q43 loss 1 - maternal Pinto, 2010
AutCNV0003798 1 1q43 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0004197 1 1q43 gain 1 - CNVs Only Present In Patients; Sanders, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000069 1q43 1 D1S2842 1.17 - - Buxbaum, 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
  • Click to Download Data

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