Evidence Details for NOSTRIN
Basic Information Top
| Gene Symbol: | NOSTRIN ( DaIP2,MGC20702 ) |
|---|---|
| Gene Full Name: | nitric oxide synthase trafficker |
| Band: | 2q24.3 |
| Quick Links | Entrez ID:115677; OMIM: 607496; Uniprot ID:NOSTN_HUMAN; ENSEMBL ID: ENSG00000163072; HGNC ID: 20203 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NOSTRIN|115677|nucleotide
ATGAGGGACCCACTGACAGATTGTCCGTATAATAAAGTATACAAGAACCTAAAGGAGTTTTCTCAAAATGGAGAGAATTTCTGCAAACAGGTCACATCTGTTCTT
CAGCAAAGGGCAAACCTGGAAATTAGCTATGCCAAAGGACTTCAGAAACTGGCAAGCAAGCTGAGCAAAGCATTACAGAACACGAGAAAAAGTTGTGTTAGCAGT
GCCTGGGCCTGGGCCTCAGAGGGAATGAAATCCACAGCGGACCTGCATCAAAAACTTGGCAAAGCAATTGAATTGGAAGCAATAAAACCGACTTATCAAGTCCTA
AATGTACAAGAGAAGAAGAGAAAATCACTTGACAATGAAGTTGAAAAGACAGCAAATCTTGTCATTAGCAACTGGAATCAGCAAATTAAGGCCAAGAAGAAATTA
ATGGTTAGTACCAAGAAACATGAAGCACTTTTCCAGCTTGTAGAAAGCTCCAAGCAATCTATGACTGAGAAGGAGAAGCGGAAGCTCCTCAATAAACTGACAAAA
TCAACTGAAAAGTTGGAAAAGGAAGATGAAAATTACTACCAAAAAAACATGGCGGGTTATTCTACCAGACTGAAATGGGAAAACACACTAGAGAACTGCTACCAG
AGCATTCTGGAGCTGGAGAAGGAAAGAATTCAACTTTTATGCAATAACTTAAACCAGTACAGCCAACATATTTCTCTTTTTGGCCAAACCCTGACCACATGCCAC
ACGCAGATTCACTGTGCCATCAGCAAGATTGACATTGAAAAAGATATCCAGGCTGTAATGGAAGAAACTGCAATTTTATCTACAGAAAACAAATCTGAGTTCCTG
TTAACGGATTACTTTGAAGAAGATCCTAACAGTGCAATGGATAAAGAGAGACGAAAGTCTTTACTAAAACCAAAATTATTGAGACTGCAGAGAGACATTGAAAAA
GCCTCAAAAGACAAGGAAGGCCTGGAACGAATGCTTAAAACGTACTCCAGCACCTCCTCCTTCTCTGATGCAAAGAGCCAGAAAGACACAGCAGCGTTAATGGAT
GAGAACAATTTGAAACTAGACCTTTTGGAAGCGAACTCCTACAAACTGTCATCAATGTTAGCAGAACTTGAGCAAAGACCTCAACCCAGCCATCCTTGTAGTAAT
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ATGAGGGACCCACTGACAGATTGTCCGTATAATAAAGTATACAAGAACCTAAAGGAGTTTTCTCAAAATGGAGAGAATTTCTGCAAACAGGTCACATCTGTTCTT
CAGCAAAGGGCAAACCTGGAAATTAGCTATGCCAAAGGACTTCAGAAACTGGCAAGCAAGCTGAGCAAAGCATTACAGAACACGAGAAAAAGTTGTGTTAGCAGT
GCCTGGGCCTGGGCCTCAGAGGGAATGAAATCCACAGCGGACCTGCATCAAAAACTTGGCAAAGCAATTGAATTGGAAGCAATAAAACCGACTTATCAAGTCCTA
AATGTACAAGAGAAGAAGAGAAAATCACTTGACAATGAAGTTGAAAAGACAGCAAATCTTGTCATTAGCAACTGGAATCAGCAAATTAAGGCCAAGAAGAAATTA
ATGGTTAGTACCAAGAAACATGAAGCACTTTTCCAGCTTGTAGAAAGCTCCAAGCAATCTATGACTGAGAAGGAGAAGCGGAAGCTCCTCAATAAACTGACAAAA
TCAACTGAAAAGTTGGAAAAGGAAGATGAAAATTACTACCAAAAAAACATGGCGGGTTATTCTACCAGACTGAAATGGGAAAACACACTAGAGAACTGCTACCAG
AGCATTCTGGAGCTGGAGAAGGAAAGAATTCAACTTTTATGCAATAACTTAAACCAGTACAGCCAACATATTTCTCTTTTTGGCCAAACCCTGACCACATGCCAC
ACGCAGATTCACTGTGCCATCAGCAAGATTGACATTGAAAAAGATATCCAGGCTGTAATGGAAGAAACTGCAATTTTATCTACAGAAAACAAATCTGAGTTCCTG
TTAACGGATTACTTTGAAGAAGATCCTAACAGTGCAATGGATAAAGAGAGACGAAAGTCTTTACTAAAACCAAAATTATTGAGACTGCAGAGAGACATTGAAAAA
GCCTCAAAAGACAAGGAAGGCCTGGAACGAATGCTTAAAACGTACTCCAGCACCTCCTCCTTCTCTGATGCAAAGAGCCAGAAAGACACAGCAGCGTTAATGGAT
GAGAACAATTTGAAACTAGACCTTTTGGAAGCGAACTCCTACAAACTGTCATCAATGTTAGCAGAACTTGAGCAAAGACCTCAACCCAGCCATCCTTGTAGTAAT
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>NOSTRIN|115677|protein
MRDPLTDCPYNKVYKNLKEFSQNGENFCKQVTSVLQQRANLEISYAKGLQKLASKLSKALQNTRKSCVSSAWAWASEGMKSTADLHQKLGKAIELEAIKPTYQVL
NVQEKKRKSLDNEVEKTANLVISNWNQQIKAKKKLMVSTKKHEALFQLVESSKQSMTEKEKRKLLNKLTKSTEKLEKEDENYYQKNMAGYSTRLKWENTLENCYQ
SILELEKERIQLLCNNLNQYSQHISLFGQTLTTCHTQIHCAISKIDIEKDIQAVMEETAILSTENKSEFLLTDYFEEDPNSAMDKERRKSLLKPKLLRLQRDIEK
ASKDKEGLERMLKTYSSTSSFSDAKSQKDTAALMDENNLKLDLLEANSYKLSSMLAELEQRPQPSHPCSNSIFRWREKEHTHSYVKISRPFLMKRLENIVSKASS
GGQSNPGSSTPAPGAAQLSSRLCKALYSFQARQDDELNLEKGDIVIIHEKKEGGWWFGSLNGKKGHFPAAYVEELPSNAGNTATKA
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MRDPLTDCPYNKVYKNLKEFSQNGENFCKQVTSVLQQRANLEISYAKGLQKLASKLSKALQNTRKSCVSSAWAWASEGMKSTADLHQKLGKAIELEAIKPTYQVL
NVQEKKRKSLDNEVEKTANLVISNWNQQIKAKKKLMVSTKKHEALFQLVESSKQSMTEKEKRKLLNKLTKSTEKLEKEDENYYQKNMAGYSTRLKWENTLENCYQ
SILELEKERIQLLCNNLNQYSQHISLFGQTLTTCHTQIHCAISKIDIEKDIQAVMEETAILSTENKSEFLLTDYFEEDPNSAMDKERRKSLLKPKLLRLQRDIEK
ASKDKEGLERMLKTYSSTSSFSDAKSQKDTAALMDENNLKLDLLEANSYKLSSMLAELEQRPQPSHPCSNSIFRWREKEHTHSYVKISRPFLMKRLENIVSKASS
GGQSNPGSSTPAPGAAQLSSRLCKALYSFQARQDDELNLEKGDIVIIHEKKEGGWWFGSLNGKKGHFPAAYVEELPSNAGNTATKA
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Evidence summary TopClick 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Maestrini, 2009_1 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 126 | 126 (-) |  | | ASD | - - |
- - | ||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | ||||||||||||
| Maestrini, 2009_4 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 126 (18.25%) | | | ASD | - - |
- | 188 (18.09%) |
- - | ||
CNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.