Evidence Details for NOS1AP
Basic Information Top
Gene Symbol: | NOS1AP ( 6330408P19Rik,CAPON,MGC138500 ) |
---|---|
Gene Full Name: | nitric oxide synthase 1 (neuronal) adaptor protein |
Band: | 1q23.3 |
Quick Links | Entrez 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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ATGTCCCTCTCTTCTCTCTGTCCTGTCTTCTCTGCCGCTGCCTCTTCTCTGCAGGTACACTTGCTGAAGGACCAGTTGGCTGCTGAGGCTGCGGCGCGGCTGGAG
GCCCAGGCTCGCGTGCATCAGCTTTTGCTGCAGAACAAGGACATGCTCCAGCACATCTCCCTGCTGGTCAAGCAGGTGCAAGAGCTGGAACTGAAGCTGTCAGGA
CAGAACGCCATGGGCTCCCAGGACAGCTTGCTGGAGATCACCTTCCGCTCCGGAGCCCTGCCCGTGCTCTGTGACCCCACGACCCCTAAGCCAGAGGACCTGCAT
TCGCCGCCGCTGGGCGCGGGCTTGGCTGACTTTGCCCACCCTGCGGGCAGCCCCTTAGGTAGGCGCGACTGCTTGGTGAAGCTGGAGTGCTTTCGCTTTCTTCCG
CCCGAGGACACCCCGCCCCCAGCGCAGGGCGAGGCGCTCCTGGGCGGTCTGGAGCTCATCAAGTTCCGAGAGTCAGGCATCGCCTCGGAGTACGAGTCCAACACG
GACGAGAGCGAGGAGCGCGACTCGTGGTCCCAGGAGGAGCTGCCGCGCCTGCTGAATGTCCTGCAGAGGCAGGAACTGGGCGACGGCCTGGATGATGAGATCGCC
GTGTAG
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>NOS1AP|9722|protein
MSLSSLCPVFSAAASSLQVHLLKDQLAAEAAARLEAQARVHQLLLQNKDMLQHISLLVKQVQELELKLSGQNAMGSQDSLLEITFRSGALPVLCDPTTPKPEDLH
SPPLGAGLADFAHPAGSPLGRRDCLVKLECFRFLPPEDTPPPAQGEALLGGLELIKFRESGIASEYESNTDESEERDSWSQEELPRLLNVLQRQELGDGLDDEIA
V
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MSLSSLCPVFSAAASSLQVHLLKDQLAAEAAARLEAQARVHQLLLQNKDMLQHISLLVKQVQELELKLSGQNAMGSQDSLLEITFRSGALPVLCDPTTPKPEDLH
SPPLGAGLADFAHPAGSPLGRRDCLVKLECFRFLPPEDTPPPAQGEALLGGLELIKFRESGIASEYESNTDESEERDSWSQEELPRLLNVLQRQELGDGLDDEIA
V
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
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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 microarray | ASD | 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 screen | ASD | 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
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