Evidence Details for NACA
Basic Information Top
| Gene Symbol: | NACA ( MGC117224,NACA1 ) |
|---|---|
| Gene Full Name: | nascent polypeptide-associated complex alpha subunit |
| Band: | 12q23-q24.1 |
| Quick Links | Entrez ID:4666; OMIM: 601234; Uniprot ID:NACA_HUMAN; ENSEMBL ID: ENSG00000196531; HGNC ID: 7629 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NACA|4666|nucleotide
ATGCCCGGCGAAGCCACAGAAACCGTCCCTGCTACAGAGCAGGAGTTGCCGCAGCCCCAGGCTGAGACAGGGTCTGGAACAGAATCTGACAGTGATGAATCAGTA
CCAGAGCTTGAAGAACAGGATTCCACCCAGGCAACCACACAACAAGCCCAGCTGGCGGCAGCAGCTGAAATTGATGAAGAACCAGTCAGTAAAGCAAAACAGAGT
CGGAGTGAAAAGAAGGCACGGAAGGCTATGTCCAAACTGGGTCTTCGGCAGGTTACAGGAGTTACTAGAGTCACTATCCGGAAATCTAAGAATATCCTCTTTGTC
ATCACAAAACCAGATGTCTACAAGAGCCCTGCTTCAGATACTTACATAGTTTTTGGGGAAGCCAAGATCGAAGATTTATCCCAGCAAGCACAACTAGCAGCTGCT
GAGAAATTCAAAGTTCAAGGTGAAGCTGTCTCAAACATTCAAGAAAACACACAGACTCCAACTGTACAAGAGGAGAGTGAAGAGGAAGAGGTCGATGAAACAGGT
GTAGAAGTTAAGGACATTGAATTGGTCATGTCACAAGCAAATGTGTCGAGAGCAAAGGCAGTCCGAGCCCTGAAGAACAACAGTAATGATATTGTAAATGCGATT
ATGGAATTAACAATGTAA
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ATGCCCGGCGAAGCCACAGAAACCGTCCCTGCTACAGAGCAGGAGTTGCCGCAGCCCCAGGCTGAGACAGGGTCTGGAACAGAATCTGACAGTGATGAATCAGTA
CCAGAGCTTGAAGAACAGGATTCCACCCAGGCAACCACACAACAAGCCCAGCTGGCGGCAGCAGCTGAAATTGATGAAGAACCAGTCAGTAAAGCAAAACAGAGT
CGGAGTGAAAAGAAGGCACGGAAGGCTATGTCCAAACTGGGTCTTCGGCAGGTTACAGGAGTTACTAGAGTCACTATCCGGAAATCTAAGAATATCCTCTTTGTC
ATCACAAAACCAGATGTCTACAAGAGCCCTGCTTCAGATACTTACATAGTTTTTGGGGAAGCCAAGATCGAAGATTTATCCCAGCAAGCACAACTAGCAGCTGCT
GAGAAATTCAAAGTTCAAGGTGAAGCTGTCTCAAACATTCAAGAAAACACACAGACTCCAACTGTACAAGAGGAGAGTGAAGAGGAAGAGGTCGATGAAACAGGT
GTAGAAGTTAAGGACATTGAATTGGTCATGTCACAAGCAAATGTGTCGAGAGCAAAGGCAGTCCGAGCCCTGAAGAACAACAGTAATGATATTGTAAATGCGATT
ATGGAATTAACAATGTAA
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>NACA|4666|protein
MPGEATETVPATEQELPQPQAETGSGTESDSDESVPELEEQDSTQATTQQAQLAAAAEIDEEPVSKAKQSRSEKKARKAMSKLGLRQVTGVTRVTIRKSKNILFV
ITKPDVYKSPASDTYIVFGEAKIEDLSQQAQLAAAEKFKVQGEAVSNIQENTQTPTVQEESEEEEVDETGVEVKDIELVMSQANVSRAKAVRALKNNSNDIVNAI
MELTM
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MPGEATETVPATEQELPQPQAETGSGTESDSDESVPELEEQDSTQATTQQAQLAAAAEIDEEPVSKAKQSRSEKKARKAMSKLGLRQVTGVTRVTIRKSKNILFV
ITKPDVYKSPASDTYIVFGEAKIEDLSQQAQLAAAEKFKVQGEAVSNIQENTQTPTVQEESEEEEVDETGVEVKDIELVMSQANVSRAKAVRALKNNSNDIVNAI
MELTM
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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 | 0 (0) | 0 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV 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 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
NGS 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.