Evidence Details for NAPG
Basic Information Top
| Gene Symbol: | NAPG ( GAMMASNAP ) |
|---|---|
| Gene Full Name: | N-ethylmaleimide-sensitive factor attachment protein, gamma |
| Band: | 18p11.22 |
| Quick Links | Entrez ID:8774; OMIM: 603216; Uniprot ID:SNAG_HUMAN; ENSEMBL ID: ENSG00000134265; HGNC ID: 7642 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NAPG|8774|nucleotide
ATGGCGGCTCAGAAGATAAACGAGGGGCTGGAACACCTCGCCAAAGCAGAGAAATACCTGAAAACTGGTTTTTTAAAATGGAAGCCAGATTATGACAGTGCCGCT
TCTGAATATGGAAAAGCAGCTGTTGCTTTTAAAAATGCCAAACAGTTTGAGCAAGCAAAAGATGCCTGCCTGAGGGAAGCTGTTGCCCATGAAAATAATAGGGCT
CTTTTTCATGCTGCCAAAGCTTATGAGCAAGCTGGAATGATGTTGAAGGAGATGCAGAAACTACCAGAGGCCGTTCAGCTAATTGAGAAGGCCAGCATGATGTAT
CTAGAAAACGGCACCCCAGACACAGCAGCCATGGCTTTGGAGCGAGCTGGAAAGCTTATAGAAAATGTTGATCCAGAGAAGGCTGTACAGTTATATCAACAGACA
GCTAATGTGTTTGAAAATGAAGAACGCTTACGACAGGCAGTTGAATTACTAGGAAAAGCCTCCAGACTACTAGTACGAGGACGTAGGTTTGATGAGGCGGCACTC
TCTATTCAGAAAGAAAAAAATATTTATAAGGAAATTGAGAATTATCCAACTTGTTATAAGAAAACAATTGCTCAAGTCTTAGTTCATCTACACAGAAATGACTAT
GTAGCTGCAGAAAGATGTGTCCGGGAGAGCTATAGCATCCCTGGGTTCAATGGCAGTGAAGACTGTGCTGCCCTGGAACAGCTTCTTGAAGGTTATGACCAGCAA
GACCAAGATCAGGTGTCAGATGTCTGCAACTCACCGCTTTTCAAGTACATGGACAATGATTATGCTAAGCTGGGCCTGAGTTTGGTGGTTCCAGGAGGGGGAATC
AAGAAGAAATCACCTGCAACACCACAGGCCAAGCCTGATGGTGTCACTGCCACGGCTGCTGATGAAGAGGAAGATGAATACTCAGGAGGACTATGCTAG
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ATGGCGGCTCAGAAGATAAACGAGGGGCTGGAACACCTCGCCAAAGCAGAGAAATACCTGAAAACTGGTTTTTTAAAATGGAAGCCAGATTATGACAGTGCCGCT
TCTGAATATGGAAAAGCAGCTGTTGCTTTTAAAAATGCCAAACAGTTTGAGCAAGCAAAAGATGCCTGCCTGAGGGAAGCTGTTGCCCATGAAAATAATAGGGCT
CTTTTTCATGCTGCCAAAGCTTATGAGCAAGCTGGAATGATGTTGAAGGAGATGCAGAAACTACCAGAGGCCGTTCAGCTAATTGAGAAGGCCAGCATGATGTAT
CTAGAAAACGGCACCCCAGACACAGCAGCCATGGCTTTGGAGCGAGCTGGAAAGCTTATAGAAAATGTTGATCCAGAGAAGGCTGTACAGTTATATCAACAGACA
GCTAATGTGTTTGAAAATGAAGAACGCTTACGACAGGCAGTTGAATTACTAGGAAAAGCCTCCAGACTACTAGTACGAGGACGTAGGTTTGATGAGGCGGCACTC
TCTATTCAGAAAGAAAAAAATATTTATAAGGAAATTGAGAATTATCCAACTTGTTATAAGAAAACAATTGCTCAAGTCTTAGTTCATCTACACAGAAATGACTAT
GTAGCTGCAGAAAGATGTGTCCGGGAGAGCTATAGCATCCCTGGGTTCAATGGCAGTGAAGACTGTGCTGCCCTGGAACAGCTTCTTGAAGGTTATGACCAGCAA
GACCAAGATCAGGTGTCAGATGTCTGCAACTCACCGCTTTTCAAGTACATGGACAATGATTATGCTAAGCTGGGCCTGAGTTTGGTGGTTCCAGGAGGGGGAATC
AAGAAGAAATCACCTGCAACACCACAGGCCAAGCCTGATGGTGTCACTGCCACGGCTGCTGATGAAGAGGAAGATGAATACTCAGGAGGACTATGCTAG
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>NAPG|8774|protein
MAAQKINEGLEHLAKAEKYLKTGFLKWKPDYDSAASEYGKAAVAFKNAKQFEQAKDACLREAVAHENNRALFHAAKAYEQAGMMLKEMQKLPEAVQLIEKASMMY
LENGTPDTAAMALERAGKLIENVDPEKAVQLYQQTANVFENEERLRQAVELLGKASRLLVRGRRFDEAALSIQKEKNIYKEIENYPTCYKKTIAQVLVHLHRNDY
VAAERCVRESYSIPGFNGSEDCAALEQLLEGYDQQDQDQVSDVCNSPLFKYMDNDYAKLGLSLVVPGGGIKKKSPATPQAKPDGVTATAADEEEDEYSGGLC
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MAAQKINEGLEHLAKAEKYLKTGFLKWKPDYDSAASEYGKAAVAFKNAKQFEQAKDACLREAVAHENNRALFHAAKAYEQAGMMLKEMQKLPEAVQLIEKASMMY
LENGTPDTAAMALERAGKLIENVDPEKAVQLYQQTANVFENEERLRQAVELLGKASRLLVRGRRFDEAALSIQKEKNIYKEIENYPTCYKKTIAQVLVHLHRNDY
VAAERCVRESYSIPGFNGSEDCAALEQLLEGYDQQDQDQVSDVCNSPLFKYMDNDYAKLGLSLVVPGGGIKKKSPATPQAKPDGVTATAADEEEDEYSGGLC
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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 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (2) |
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 | ||||||
| Cusco, 2008 | Spanish | aCGH |  |  | ASD | - | - | - | - | 96 | 100 | 196 |
Linkage Studies Top