AutismKB

Evidence Detail for CPLX1


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Basic Information Top
Gene Symbol:CPLX1 ( CPX-I,CPX1 )
Gene Full Name: complexin 1
Band: 4p16.3
Quick LinksEntrez ID:10815; OMIM: 605032; Uniprot ID:CPLX1_HUMAN; ENSEMBL ID: ENSG00000168993
Sequences Top
>CPLX1|10815|nucleotide
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>CPLX1|10815|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) 1 (2) 1 (1) 0 (0) 0 (0) 4 (2)
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%)
0.70168 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1801703
  • 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
AutCNV0000019 4 4p15.32-16.3 loss 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0004234 4 4p16.2-p16.3 gain 1 - CNVs Only Present In Patients; Sanders, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000019 4p16.3 4 D4S2936 1.52 - - Bailey, 1998

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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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