AutismKB 2.0

Evidence Details for NAT10


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Basic Information Top
Gene Symbol:NAT10 ( ALP,DKFZp434C116,FLJ10774,FLJ12179,FLJ23850,KIAA1709,NET43 )
Gene Full Name: N-acetyltransferase 10 (GCN5-related)
Band: 11p13
Quick LinksEntrez 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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>NAT10|55226|protein
MRQLQKKIKNGTLNIKQDDPFELFIAATNIRYCYYNETHKILGNTFGMCVLQDFEALTPNLLARTVETVEGGGLVVILLRTMNSLKQLYTVTMDVHSRYRTEAHQ
DVVGRFNERFILSLASCKKCLVIDDQLNILPISSHVATMEALPPQTPDESLGPSDLELRELKESLQDTQPVGVLVDCCKTLDQAKAVLKFIEGISEKTLRSTVAL
TAARGRGKSAALGLAIAGAVAFGYSNIFVTSPSPDNLHTLFEFVFKGFDALQYQEHLDYEIIQSLNPEFNKAVIRVNVFREHRQTIQYIHPADAVKLGQAELVVI
DEAAAIPLPLVKSLLGPYLVFMASTINGYEGTGRSLSLKLIQQLRQQSAQSQVSTTAENKTTTTARLASARTLHEVSLQESIRYAPGDAVEKWLNDLLCLDCLNI
TRIVSGCPLPEACELYYVNRDTLFCYHKASEVFLQRLMALYVASHYKNSPNDLQMLSDAPAHHLFCLLPPVPPTQNALPEVLAVIQVCLEGEISRQSILNSLSRG
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Evidence summary Top

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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, qPCRASD - - - - 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 screenPDD 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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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018