Evidence Detail for CTTNBP2

View Evidences View Annotations
Basic Information Top
Gene Symbol:CTTNBP2 ( C7orf8,CORTBP2,FLJ34229,KIAA1758,MGC104579,Orf4 )
Gene Full Name: cortactin binding protein 2
Band: 7q31
Quick LinksEntrez ID:83992; OMIM: 609772; Uniprot ID:CTTB2_HUMAN; ENSEMBL ID: ENSG00000077063
Sequences Top
Show »

Show »

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 (0) 0 (0) 1 (4) 1 (1) 0 (0) 1 (1) 10 (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
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Iossifov, 2012_1 human bloodASD Mutation screen
  • Subjects: 343 simplex pedigrees
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: De novo functional mutation was found in this gene locus
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000142 7 7q31.1-31.31 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0000143 7 7q31.1-32.2 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0003257 7 7q31.2-31.31 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0004266 7 7q31.1-q31.31 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004269 7 7q31.1-q32.1 loss 1 - CNVs Only Present In Patients; Sanders, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000153 7q31.31-q32.3 7 rs1990790 1.97 - - Allen-Brady, 2010

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Quick Search:

  (e.g. NLGN4X)

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

Registered with NIF