AutismKB 2.0

Evidence Details for NOS1


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Basic Information Top
Gene Symbol:NOS1 ( IHPS1,N-NOS,NC-NOS,NOS,bNOS,nNOS )
Gene Full Name: nitric oxide synthase 1 (neuronal)
Band: 12q24.22
Quick LinksEntrez ID:4842; OMIM: 163731; Uniprot ID:NOS1_HUMAN; ENSEMBL ID: ENSG00000089250; HGNC ID: 7872
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NOS1|4842|nucleotide
ATGGAGGATCACATGTTCGGTGTTCAGCAAATCCAGCCCAATGTCATTTCTGTTCGTCTCTTCAAGCGCAAAGTTGGGGGCCTGGGATTTCTGGTGAAGGAGCGG
GTCAGTAAGCCGCCCGTGATCATCTCTGACCTGATTCGTGGGGGCGCCGCAGAGCAGAGTGGCCTCATCCAGGCCGGAGACATCATTCTTGCGGTCAACGGCCGG
CCCTTGGTGGACCTGAGCTATGACAGCGCCCTGGAGGTACTCAGAGGCATTGCCTCTGAGACCCACGTGGTCCTCATTCTGAGGGGCCCTGAAGGTTTCACCACG
CACCTGGAGACCACCTTTACAGGTGATGGGACCCCCAAGACCATCCGGGTGACACAGCCCCTGGGTCCCCCCACCAAAGCCGTGGATCTGTCCCACCAGCCACCG
GCCGGCAAAGAACAGCCCCTGGCAGTGGATGGGGCCTCGGGTCCCGGGAATGGGCCTCAGCATGCCTACGATGATGGGCAGGAGGCTGGCTCACTCCCCCATGCC
AACGGCCTGGCCCCCAGGCCCCCAGGCCAGGACCCCGCGAAGAAAGCAACCAGAGTCAGCCTCCAAGGCAGAGGGGAGAACAATGAACTGCTCAAGGAGATAGAG
CCTGTGCTGAGCCTTCTCACCAGTGGGAGCAGAGGGGTCAAGGGAGGGGCACCTGCCAAGGCAGAGATGAAAGATATGGGAATCCAGGTGGACAGAGATTTGGAC
GGCAAGTCACACAAACCTCTGCCCCTCGGCGTGGAGAACGACCGAGTCTTCAATGACCTATGGGGGAAGGGCAATGTGCCTGTCGTCCTCAACAACCCATATTCA
GAGAAGGAGCAGCCCCCCACCTCAGGAAAACAGTCCCCCACAAAGAATGGCAGCCCCTCCAAGTGTCCACGCTTCCTCAAGGTCAAGAACTGGGAGACTGAGGTG
GTTCTCACTGACACCCTCCACCTTAAGAGCACATTGGAAACGGGATGCACTGAGTACATCTGCATGGGCTCCATCATGCATCCTTCTCAGCATGCAAGGAGGCCT
GAAGACGTCCGCACAAAAGGACAGCTCTTCCCTCTCGCCAAAGAGTTTATTGATCAATACTATTCATCAATTAAAAGATTTGGCTCCAAAGCCCACATGGAAAGG
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>NOS1|4842|protein
MEDHMFGVQQIQPNVISVRLFKRKVGGLGFLVKERVSKPPVIISDLIRGGAAEQSGLIQAGDIILAVNGRPLVDLSYDSALEVLRGIASETHVVLILRGPEGFTT
HLETTFTGDGTPKTIRVTQPLGPPTKAVDLSHQPPAGKEQPLAVDGASGPGNGPQHAYDDGQEAGSLPHANGLAPRPPGQDPAKKATRVSLQGRGENNELLKEIE
PVLSLLTSGSRGVKGGAPAKAEMKDMGIQVDRDLDGKSHKPLPLGVENDRVFNDLWGKGNVPVVLNNPYSEKEQPPTSGKQSPTKNGSPSKCPRFLKVKNWETEV
VLTDTLHLKSTLETGCTEYICMGSIMHPSQHARRPEDVRTKGQLFPLAKEFIDQYYSSIKRFGSKAHMERLEEVNKEIDTTSTYQLKDTELIYGAKHAWRNASRC
VGRIQWSKLQVFDARDCTTAHGMFNYICNHVKYATNKGNLRSAITIFPQRTDGKHDFRVWNSQLIRYAGYKQPDGSTLGDPANVQFTEICIQQGWKPPRGRFDVL
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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 (4) 0 (0) 0 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (6)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top