AutismKB

Evidence Detail for PLCXD3


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Basic Information Top
Gene Symbol:PLCXD3 ( - )
Gene Full Name: phosphatidylinositol-specific phospholipase C, X domain containing 3
Band: 5p13.1
Quick LinksEntrez ID:345557; OMIM: ; Uniprot ID:PLCX3_HUMAN; ENSEMBL ID: ENSG00000182836
Sequences Top
>PLCXD3|345557|nucleotide
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>PLCXD3|345557|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 1 (1) 0 (0) 2 (4) 0 (0) 0 (0) 3 (5)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
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
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.738824 Down 0.45437
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1798841
  • 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
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000013 5p13.1 5 D5S2494 2.54 - - Yonan, 2003
AutLD0000057 5p13.1 5 D5S2494 2.55 - - Liu, 2001
AutLD0000087 5p13.1 5 D5S2494 - 2.18 - Buxbaum, 2004
AutLD0000106 5p13.1 5 D5S1490 - 1.82 - Ylisaukko-oja, 2006

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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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