AutismKB 2.0

Evidence Details 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; HGNC ID: 16859
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NOS1AP|9722|nucleotide
ATGTCCCTCTCTTCTCTCTGTCCTGTCTTCTCTGCCGCTGCCTCTTCTCTGCAGGTACACTTGCTGAAGGACCAGTTGGCTGCTGAGGCTGCGGCGCGGCTGGAG
GCCCAGGCTCGCGTGCATCAGCTTTTGCTGCAGAACAAGGACATGCTCCAGCACATCTCCCTGCTGGTCAAGCAGGTGCAAGAGCTGGAACTGAAGCTGTCAGGA
CAGAACGCCATGGGCTCCCAGGACAGCTTGCTGGAGATCACCTTCCGCTCCGGAGCCCTGCCCGTGCTCTGTGACCCCACGACCCCTAAGCCAGAGGACCTGCAT
TCGCCGCCGCTGGGCGCGGGCTTGGCTGACTTTGCCCACCCTGCGGGCAGCCCCTTAGGTAGGCGCGACTGCTTGGTGAAGCTGGAGTGCTTTCGCTTTCTTCCG
CCCGAGGACACCCCGCCCCCAGCGCAGGGCGAGGCGCTCCTGGGCGGTCTGGAGCTCATCAAGTTCCGAGAGTCAGGCATCGCCTCGGAGTACGAGTCCAACACG
GACGAGAGCGAGGAGCGCGACTCGTGGTCCCAGGAGGAGCTGCCGCGCCTGCTGAATGTCCTGCAGAGGCAGGAACTGGGCGACGGCCTGGATGATGAGATCGCC
GTGTAG




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>NOS1AP|9722|protein
MSLSSLCPVFSAAASSLQVHLLKDQLAAEAAARLEAQARVHQLLLQNKDMLQHISLLVKQVQELELKLSGQNAMGSQDSLLEITFRSGALPVLCDPTTPKPEDLH
SPPLGAGLADFAHPAGSPLGRRDCLVKLECFRFLPPEDTPPPAQGEALLGGLELIKFRESGIASEYESNTDESEERDSWSQEELPRLLNVLQRQELGDGLDDEIA
V


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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 12 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Ylisaukko-oja, 2006 USA, Finland microsatellite-based genomic screenASD 314 - 314 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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.

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018