Evidence Details for NAGPA
Basic Information Top
| Gene Symbol: | NAGPA ( APAA,UCE ) |
|---|---|
| Gene Full Name: | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
| Band: | 16p13.3 |
| Quick Links | Entrez ID:51172; OMIM: 607985; Uniprot ID:NAGPA_HUMAN; ENSEMBL ID: ENSG00000103174; HGNC ID: 17378 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NAGPA|51172|nucleotide
ATGGCGACCTCCACGGGTCGCTGGCTTCTCCTCCGGCTTGCACTATTCGGCTTCCTCTGGGAAGCGTCCGGCGGCCTCGACTCGGGGGCCTCCCGCGACGACGAC
TTGCTACTGCCCTATCCACGCGCGCGCGCGCGCCTCCCCCGGGACTGCACACGGGTGCGCGCCGGCAACCGCGAGCACGAGAGTTGGCCTCCGCCTCCCGCGACT
CCCGGCGCCGGCGGTCTGGCCGTGCGCACCTTCGTGTCGCACTTCAGGGACCGCGCGGTGGCCGGCCACCTGACGCGGGCCGTTGAGCCCCTGCGCACCTTCTCG
GTGCTGGAGCCCGGTGGACCCGGCGGCTGCGCGGCGAGACGACGCGCCACCGTGGAGGAGACGGCGCGGGCGGCCGACTGCCGTGTCGCCCAGAACGGCGGCTTC
TTCCGCATGAACTCGGGCGAGTGCCTGGGGAACGTGGTGAGCGACGAGCGGCGGGTGAGCAGCTCCGGGGGGCTGCAGAACGCGCAGTTCGGGATCCGCCGCGAC
GGGACCCTGGTCACCGGGTACCTGTCTGAGGAGGAGGTGCTGGACACTGAGAACCCATTTGTGCAGCTGCTGAGTGGGGTCGTGTGGCTGATTCGTAATGGAAGC
ATCTACATCAACGAGAGCCAAGCCACAGAGTGTGACGAGACACAGGAGACAGGTTCCTTTAGCAAATTTGTGAATGTGATATCAGCCAGGACGGCCATTGGCCAC
GACCGGAAAGGGCAGCTGGTGCTCTTTCATGCAGACGGCCAAACGGAGCAGCGTGGCATCAACCTGTGGGAAATGGCGGAGTTCCTGCTGAAACAGGACGTGGTC
AACGCCATCAACCTGGATGGGGGTGGCTCTGCCACCTTTGTGCTCAACGGGACCTTGGCCAGTTACCCGTCAGATCACTGCCAGGACAACATGTGGCGCTGTCCC
CGCCAAGTGTCCACCGTGGTGTGTGTGCACGAACCCCGCTGCCAGCCGCCTGACTGCCACGGCCACGGGACCTGCGTGGACGGGCACTGCCAATGCACCGGGCAC
TTCTGGCGGGGTCCCGGCTGTGATGAGCTGGACTGTGGCCCCTCTAACTGCAGCCAGCACGGACTGTGCACGGAGACCGGCTGCCGCTGTGATGCCGGATGGACC
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ATGGCGACCTCCACGGGTCGCTGGCTTCTCCTCCGGCTTGCACTATTCGGCTTCCTCTGGGAAGCGTCCGGCGGCCTCGACTCGGGGGCCTCCCGCGACGACGAC
TTGCTACTGCCCTATCCACGCGCGCGCGCGCGCCTCCCCCGGGACTGCACACGGGTGCGCGCCGGCAACCGCGAGCACGAGAGTTGGCCTCCGCCTCCCGCGACT
CCCGGCGCCGGCGGTCTGGCCGTGCGCACCTTCGTGTCGCACTTCAGGGACCGCGCGGTGGCCGGCCACCTGACGCGGGCCGTTGAGCCCCTGCGCACCTTCTCG
GTGCTGGAGCCCGGTGGACCCGGCGGCTGCGCGGCGAGACGACGCGCCACCGTGGAGGAGACGGCGCGGGCGGCCGACTGCCGTGTCGCCCAGAACGGCGGCTTC
TTCCGCATGAACTCGGGCGAGTGCCTGGGGAACGTGGTGAGCGACGAGCGGCGGGTGAGCAGCTCCGGGGGGCTGCAGAACGCGCAGTTCGGGATCCGCCGCGAC
GGGACCCTGGTCACCGGGTACCTGTCTGAGGAGGAGGTGCTGGACACTGAGAACCCATTTGTGCAGCTGCTGAGTGGGGTCGTGTGGCTGATTCGTAATGGAAGC
ATCTACATCAACGAGAGCCAAGCCACAGAGTGTGACGAGACACAGGAGACAGGTTCCTTTAGCAAATTTGTGAATGTGATATCAGCCAGGACGGCCATTGGCCAC
GACCGGAAAGGGCAGCTGGTGCTCTTTCATGCAGACGGCCAAACGGAGCAGCGTGGCATCAACCTGTGGGAAATGGCGGAGTTCCTGCTGAAACAGGACGTGGTC
AACGCCATCAACCTGGATGGGGGTGGCTCTGCCACCTTTGTGCTCAACGGGACCTTGGCCAGTTACCCGTCAGATCACTGCCAGGACAACATGTGGCGCTGTCCC
CGCCAAGTGTCCACCGTGGTGTGTGTGCACGAACCCCGCTGCCAGCCGCCTGACTGCCACGGCCACGGGACCTGCGTGGACGGGCACTGCCAATGCACCGGGCAC
TTCTGGCGGGGTCCCGGCTGTGATGAGCTGGACTGTGGCCCCTCTAACTGCAGCCAGCACGGACTGTGCACGGAGACCGGCTGCCGCTGTGATGCCGGATGGACC
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>NAGPA|51172|protein
MATSTGRWLLLRLALFGFLWEASGGLDSGASRDDDLLLPYPRARARLPRDCTRVRAGNREHESWPPPPATPGAGGLAVRTFVSHFRDRAVAGHLTRAVEPLRTFS
VLEPGGPGGCAARRRATVEETARAADCRVAQNGGFFRMNSGECLGNVVSDERRVSSSGGLQNAQFGIRRDGTLVTGYLSEEEVLDTENPFVQLLSGVVWLIRNGS
IYINESQATECDETQETGSFSKFVNVISARTAIGHDRKGQLVLFHADGQTEQRGINLWEMAEFLLKQDVVNAINLDGGGSATFVLNGTLASYPSDHCQDNMWRCP
RQVSTVVCVHEPRCQPPDCHGHGTCVDGHCQCTGHFWRGPGCDELDCGPSNCSQHGLCTETGCRCDAGWTGSNCSEECPLGWHGPGCQRPCKCEHHCPCDPKTGN
CSVSRVKQCLQPPEATLRAGELSFFTRTAWLALTLALAFLLLISTAANLSLLLSRAERNRRLHGDYAYHPLQEMNGEPLAAEKEQPGGAHNPFKD
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MATSTGRWLLLRLALFGFLWEASGGLDSGASRDDDLLLPYPRARARLPRDCTRVRAGNREHESWPPPPATPGAGGLAVRTFVSHFRDRAVAGHLTRAVEPLRTFS
VLEPGGPGGCAARRRATVEETARAADCRVAQNGGFFRMNSGECLGNVVSDERRVSSSGGLQNAQFGIRRDGTLVTGYLSEEEVLDTENPFVQLLSGVVWLIRNGS
IYINESQATECDETQETGSFSKFVNVISARTAIGHDRKGQLVLFHADGQTEQRGINLWEMAEFLLKQDVVNAINLDGGGSATFVLNGTLASYPSDHCQDNMWRCP
RQVSTVVCVHEPRCQPPDCHGHGTCVDGHCQCTGHFWRGPGCDELDCGPSNCSQHGLCTETGCRCDAGWTGSNCSEECPLGWHGPGCQRPCKCEHHCPCDPKTGN
CSVSRVKQCLQPPEATLRAGELSFFTRTAWLALTLALAFLLLISTAANLSLLLSRAERNRRLHGDYAYHPLQEMNGEPLAAEKEQPGGAHNPFKD
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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) | 1 (2) | 1 (2) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 5 (5) |
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 | ||||||
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
| Asadollahi R, 2014 | - | CMA | - | - | NDDs | - | - | - | - | 714 | 2528 | 3242 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2004 | USA | microsatellite-based genomic screen |  | | autism | 115 | - | 115 | - | - | - | - |
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.905223 | Down | 14.2229 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS 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.