AutismKB

Evidence Detail for NOS1AP


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Basic Information Top
Gene Symbol:NOS1AP ( 6330408P19Rik,CAPON,MGC138500 )
Gene Full Name: nitric oxide synthase 1 (neuronal) adaptor protein
Band: 1q23.3
Quick LinksEntrez ID:9722; OMIM: 605551; Uniprot ID:CAPON_HUMAN; ENSEMBL ID: ENSG00000198929
Sequences Top
>NOS1AP|9722|nucleotide
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>NOS1AP|9722|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) 0 (0) 1 (1) 0 (0) 1 (1) 8 (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
Delorme, 2010_1 human bloodASD genetics: mutation screen
  • Subjects: 81
  • Normal Controls: 93
  • Methods: RT-PCR
  • Evidence Details: Two non-synonymous variations of NOS1AP, V37I and D423N were identified in two families, one with two siblings with OCD and the other with two brothers with ASD. These rare variations apparently segregate with the presence of psychiatric conditions.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000052 1 1q23.3 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000053 1 1q23.3 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000104 1q23.3 1 D1S1677 - 2.25 - Ylisaukko-oja, 2006

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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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