AutismKB

Evidence Detail for SHANK2


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Basic Information Top
Gene Symbol:SHANK2 ( AUTS17,CORTBP1,CTTNBP1,ProSAP1,SHANK,SPANK-3 )
Gene Full Name: SH3 and multiple ankyrin repeat domains 2
Band: 11q13.2
Quick LinksEntrez ID:22941; OMIM: 603290; Uniprot ID:SHAN2_HUMAN; ENSEMBL ID: ENSG00000162105
Sequences Top
>SHANK2|22941|nucleotide
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>SHANK2|22941|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) 0 (0) 1 (5) 0 (0) 0 (0) 2 (2) 16 (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
Berkel, 2010_1 human blood leukocytesASD/MR genetics: mutation screen
  • Subjects: 396 ASD cases and 184 MR cases
  • Normal Controls: 659
  • Methods: sanger-based DNA sequencing
  • Evidence Details: One de novo nonsense mutation and seven rare inherited changes were found in the coding region of SHANK2.
Sanders, 2012_1 human bloodASD Mutation screen
  • Subjects: 238 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
AutCNV0000705 11 11q13.3 Loss - - CNVs Not Present In Control; Denovo CNVs; Berkel, 2010
AutCNV0000702 11 11q13.3 Loss - - CNVs Not Present In Control; Denovo CNVs; Berkel, 2010
AutCNV0000806 11 11q13.3 loss 1 - DeNovo Pinto, 2010
AutCNV0000822 11 11q13.3 loss 1 - DeNovo Pinto, 2010
AutCNV0004293 11 11q13.3 loss 1 - Overlapping/Recurrent CNVs; DeNovo Sanders, 2011
AutCNV0004294 11 11q13.3 loss 1 - Overlapping/Recurrent CNVs; DeNovo Sanders, 2011
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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