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 Top