AutismKB

Evidence Detail for CADM1


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Basic Information Top
Gene Symbol:CADM1 ( BL2,DKFZp686F1789,IGSF4,IGSF4A,MGC149785,MGC51880,NECL2,Necl-2,RA175,ST17,SYNCAM,TSLC1,sTSLC-1,sgIGSF,synCAM1 )
Gene Full Name: cell adhesion molecule 1
Band: 11q23.2
Quick LinksEntrez ID:23705; OMIM: 605686; Uniprot ID:CADM1_HUMAN; ENSEMBL ID: ENSG00000182985
Sequences Top
>CADM1|23705|nucleotide
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>CADM1|23705|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 (1) 0 (0) 0 (0) 3 (3) 24 (4)
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
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Zhiling, 2008_1 human -ASD genetics: mutation screen
  • Subjects: 195 Caucasian patients, 170 males and 25 females
  • Normal Controls: 197
  • Methods: PCR, sequence
  • Evidence Details: We found two missense mutations, C739A(H246N) and A755C(Y251S), in the CADM1 gene of male Caucasian ASD patients and their family members. Both mutations were located in the third immunoglobulin domain, which is essential for trans-active interaction.
Zhiling, 2008_2 human C2C5 cells (P19 EC cells constitutively expressing c-jun)--- protein function
  • Subjects: -
  • Normal Controls: -
  • Methods: site-specific mutagenesis, intracellular localization and cleavage and or degradation of the CADM1 molecules were examined by immunostaining and immunoblot analysis with rabbit anti-His
  • Evidence Details: The mutated CADM1 exhibited less amount of high molecular weight with the matured oligosaccharide, defective trafficking to the cell surface, and more susceptibility to the cleavage and or degradation.
Fujita, 2011_1 mouse neurons--- expression level
  • Subjects: -
  • Normal Controls: -
  • Methods: pull-down, western blot
  • Evidence Details: Both mutated CADM1 and NLGN3(R451C) induced upregulation of C/EBP-homologous protein(CHOP), an ER stress marker, suggesting that in addition to the trafficking impairment, this CHOP upregulation may also be involved in ASD pathogenesis
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%)
1.38641 Up -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1680132
  • 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
AutCNV0000093 11 11q23.2-25 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
Linkage Studies Top

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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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