Evidence Detail for NBEA

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Basic Information Top
Gene Symbol:NBEA ( BCL8B,LYST2 )
Gene Full Name: neurobeachin
Band: 13q13
Quick LinksEntrez ID:26960; OMIM: 604889; Uniprot ID:NBEA_HUMAN; ENSEMBL ID: ENSG00000172915
Sequences Top
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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 (1) 0 (0) 0 (0) 1 (1) 9 (1)
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
Castermans, 2003_1 human blood--ASD case report
  • Subjects: 525
  • Normal Controls: -
  • Methods: cytogenetic
  • Evidence Details: The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000265 13 13q12-13 loss 1 - CNVs Only Present In Patients; Smith, 2002
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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