Evidence Details for NAT10
Basic Information Top
| Gene Symbol: | NAT10 ( ALP,DKFZp434C116,FLJ10774,FLJ12179,FLJ23850,KIAA1709,NET43 ) |
|---|---|
| Gene Full Name: | N-acetyltransferase 10 (GCN5-related) |
| Band: | 11p13 |
| Quick Links | Entrez ID:55226; OMIM: 609221; Uniprot ID:NAT10_HUMAN; ENSEMBL ID: ENSG00000135372; HGNC ID: 29830 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>NAT10|55226|nucleotide
ATGCGACAGCTGCAGAAGAAAATAAAGAATGGAACACTGAACATAAAGCAGGACGACCCCTTTGAACTCTTCATAGCAGCCACAAACATTCGCTACTGCTACTAC
AACGAGACCCACAAGATCCTGGGCAATACCTTCGGCATGTGTGTGCTGCAGGATTTTGAAGCCTTAACTCCAAACTTGCTGGCCAGGACTGTAGAAACAGTGGAA
GGTGGTGGGCTAGTGGTCATCCTCCTACGGACCATGAACTCACTCAAGCAATTGTACACAGTGACTATGGATGTGCATTCCAGGTACAGAACTGAGGCCCATCAG
GATGTGGTGGGAAGATTTAATGAAAGGTTTATTCTGTCTCTGGCCTCTTGTAAGAAGTGTCTCGTCATTGATGACCAGCTCAACATCCTGCCCATCTCCTCCCAC
GTTGCCACCATGGAGGCCCTGCCTCCCCAGACTCCGGATGAGAGTCTTGGTCCTTCTGATCTGGAGCTGAGGGAGTTGAAGGAGAGCTTGCAGGACACCCAGCCT
GTGGGTGTGTTGGTGGACTGCTGTAAGACTCTAGACCAGGCCAAAGCTGTCTTGAAATTTATCGAGGGCATCTCTGAAAAGACCCTGAGGAGTACTGTTGCACTC
ACAGCTGCTCGAGGACGGGGAAAATCTGCAGCCCTGGGATTGGCGATTGCTGGGGCGGTGGCATTTGGGTACTCCAATATCTTTGTTACCTCCCCAAGCCCTGAT
AACCTCCATACTCTGTTTGAATTTGTATTTAAAGGATTTGATGCTCTGCAATATCAGGAACATCTGGATTATGAGATTATCCAGTCTCTAAATCCTGAATTTAAC
AAAGCAGTGATCAGAGTGAATGTATTTCGAGAACACAGGCAGACTATTCAGTATATACATCCTGCAGATGCTGTGAAGCTGGGCCAGGCTGAACTAGTTGTGATT
GATGAAGCTGCCGCCATCCCCCTCCCCTTGGTGAAGAGCCTACTTGGCCCCTACCTTGTTTTCATGGCATCCACCATCAATGGCTATGAGGGCACTGGCCGGTCA
CTGTCCCTCAAGCTAATTCAGCAGCTCCGTCAACAGAGCGCCCAGAGCCAGGTCAGCACCACTGCTGAGAATAAGACCACGACGACAGCCAGATTGGCATCAGCG
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ATGCGACAGCTGCAGAAGAAAATAAAGAATGGAACACTGAACATAAAGCAGGACGACCCCTTTGAACTCTTCATAGCAGCCACAAACATTCGCTACTGCTACTAC
AACGAGACCCACAAGATCCTGGGCAATACCTTCGGCATGTGTGTGCTGCAGGATTTTGAAGCCTTAACTCCAAACTTGCTGGCCAGGACTGTAGAAACAGTGGAA
GGTGGTGGGCTAGTGGTCATCCTCCTACGGACCATGAACTCACTCAAGCAATTGTACACAGTGACTATGGATGTGCATTCCAGGTACAGAACTGAGGCCCATCAG
GATGTGGTGGGAAGATTTAATGAAAGGTTTATTCTGTCTCTGGCCTCTTGTAAGAAGTGTCTCGTCATTGATGACCAGCTCAACATCCTGCCCATCTCCTCCCAC
GTTGCCACCATGGAGGCCCTGCCTCCCCAGACTCCGGATGAGAGTCTTGGTCCTTCTGATCTGGAGCTGAGGGAGTTGAAGGAGAGCTTGCAGGACACCCAGCCT
GTGGGTGTGTTGGTGGACTGCTGTAAGACTCTAGACCAGGCCAAAGCTGTCTTGAAATTTATCGAGGGCATCTCTGAAAAGACCCTGAGGAGTACTGTTGCACTC
ACAGCTGCTCGAGGACGGGGAAAATCTGCAGCCCTGGGATTGGCGATTGCTGGGGCGGTGGCATTTGGGTACTCCAATATCTTTGTTACCTCCCCAAGCCCTGAT
AACCTCCATACTCTGTTTGAATTTGTATTTAAAGGATTTGATGCTCTGCAATATCAGGAACATCTGGATTATGAGATTATCCAGTCTCTAAATCCTGAATTTAAC
AAAGCAGTGATCAGAGTGAATGTATTTCGAGAACACAGGCAGACTATTCAGTATATACATCCTGCAGATGCTGTGAAGCTGGGCCAGGCTGAACTAGTTGTGATT
GATGAAGCTGCCGCCATCCCCCTCCCCTTGGTGAAGAGCCTACTTGGCCCCTACCTTGTTTTCATGGCATCCACCATCAATGGCTATGAGGGCACTGGCCGGTCA
CTGTCCCTCAAGCTAATTCAGCAGCTCCGTCAACAGAGCGCCCAGAGCCAGGTCAGCACCACTGCTGAGAATAAGACCACGACGACAGCCAGATTGGCATCAGCG
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>NAT10|55226|protein
MRQLQKKIKNGTLNIKQDDPFELFIAATNIRYCYYNETHKILGNTFGMCVLQDFEALTPNLLARTVETVEGGGLVVILLRTMNSLKQLYTVTMDVHSRYRTEAHQ
DVVGRFNERFILSLASCKKCLVIDDQLNILPISSHVATMEALPPQTPDESLGPSDLELRELKESLQDTQPVGVLVDCCKTLDQAKAVLKFIEGISEKTLRSTVAL
TAARGRGKSAALGLAIAGAVAFGYSNIFVTSPSPDNLHTLFEFVFKGFDALQYQEHLDYEIIQSLNPEFNKAVIRVNVFREHRQTIQYIHPADAVKLGQAELVVI
DEAAAIPLPLVKSLLGPYLVFMASTINGYEGTGRSLSLKLIQQLRQQSAQSQVSTTAENKTTTTARLASARTLHEVSLQESIRYAPGDAVEKWLNDLLCLDCLNI
TRIVSGCPLPEACELYYVNRDTLFCYHKASEVFLQRLMALYVASHYKNSPNDLQMLSDAPAHHLFCLLPPVPPTQNALPEVLAVIQVCLEGEISRQSILNSLSRG
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MRQLQKKIKNGTLNIKQDDPFELFIAATNIRYCYYNETHKILGNTFGMCVLQDFEALTPNLLARTVETVEGGGLVVILLRTMNSLKQLYTVTMDVHSRYRTEAHQ
DVVGRFNERFILSLASCKKCLVIDDQLNILPISSHVATMEALPPQTPDESLGPSDLELRELKESLQDTQPVGVLVDCCKTLDQAKAVLKFIEGISEKTLRSTVAL
TAARGRGKSAALGLAIAGAVAFGYSNIFVTSPSPDNLHTLFEFVFKGFDALQYQEHLDYEIIQSLNPEFNKAVIRVNVFREHRQTIQYIHPADAVKLGQAELVVI
DEAAAIPLPLVKSLLGPYLVFMASTINGYEGTGRSLSLKLIQQLRQQSAQSQVSTTAENKTTTTARLASARTLHEVSLQESIRYAPGDAVEKWLNDLLCLDCLNI
TRIVSGCPLPEACELYYVNRDTLFCYHKASEVFLQRLMALYVASHYKNSPNDLQMLSDAPAHHLFCLLPPVPPTQNALPEVLAVIQVCLEGEISRQSILNSLSRG
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Evidence summary Top
Click 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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (1) | 0 (0) | 2 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR | ![]() | ![]() | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Yonan, 2003 | USA | microsatellite-based genomic screen | ![]() | ![]() | PDD | 345 | - | 345 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
NGS Other Studies Top
| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Toma C, 2014 | - | Illumina HiSeq 2000 | - | - | ASD | 10 | - | - | 21 | - |
Low Scale Gene Studies Top
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