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