AutismKB 2.0

Evidence Details for NAA25


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Basic Information Top
Gene Symbol:NAA25 ( C12orf30,DKFZp667K2112,FLJ13089,MDM20,NAP1 )
Gene Full Name: N(alpha)-acetyltransferase 25, NatB auxiliary subunit
Band: 12q24.13
Quick LinksEntrez ID:80018; OMIM: 612755; Uniprot ID:NAA25_HUMAN; ENSEMBL ID: ENSG00000111300; HGNC ID: 25783
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NAA25|80018|nucleotide
ATGGCGACGCGGGGCCATGTGCAGGACCCTAACGACAGGCGCCTCCGGCCCATTTACGATTATCTTGACAATGGTAATAATAAAATGGCAATTCAGCAAGCAGAT
AAACTGTTGAAGAAACATAAGGATCTTCATTGTGCTAAGGTTTTAAAGGCAATTGGTTTACAGAGAACTGGAAAGCAAGAGGAAGCCTTTACTCTTGCACAGGAG
GTGGCAGCCCTTGAACCCACAGATGACAACTCACTGCAGGCACTGACTATCCTTTACCGGGAGATGCACCGACCGGAGTTAGTTACAAAACTTTATGAGGCAGCT
GTGAAGAAAGTTCCCAATAGTGAGGAGTATCACTCTCACCTCTTCATGGCCTATGCCAGAGTGGGTGAATACAAGAAAATGCAACAGGCTGGCATGGCTCTATAT
AAGATTGTCCCCAAAAATCCCTACTACTTTTGGTCTGTGATGAGCTTAATTATGCAATCTATATCGGCACAGGATGAAAACCTCTCAAAAACAATGTTTCTGCCC
CTTGCTGAGAGAATGGTCGAAAAAATGGTGAAAGAGGACAAGATAGAAGCTGAGGCTGAAGTTGAACTTTATTATATGATCCTGGAACGTTTGGGAAAGTACCAG
GAGGCCTTGGATGTCATCAGAGGGAAATTAGGAGAGAAGTTGACAAGTGAGATTCAGAGTCGGGAAAATAAATGCATGGCTATGTACAAGAAGCTGAGCAGGTGG
CCAGAGTGCAATGCCCTTTCCCGGCGCCTCTTACTAAAAAACTCAGATGACTGGCAGTTCTATCTGACTTATTTCGATTCTGTCTTTCGACTGATTGAAGAGGCC
TGGAGTCCTCCTGCTGAAGGTGAACACTCTTTAGAAGGAGAAGTACATTATTCTGCAGAAAAAGCTGTGAAGTTTATAGAAGATCGGATAACGGAAGAATCTAAA
AGTTCTCGCCATCTCCGAGGACCACATCTAGCTAAATTGGAGCTGATTAGGCGTTTACGAAGTCAAGGTTGTAACGATGAGTACAAACTGGGTGATCCAGAAGAA
TTAATGTTCCAGTATTTTAAAAAGTTTGGCGATAAACCTTGTTGTTTTACAGACCTTAAGGTGTTTGTTGACCTCTTACCTGCTACACAGTGTACAAAATTTATT
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>NAA25|80018|protein
MATRGHVQDPNDRRLRPIYDYLDNGNNKMAIQQADKLLKKHKDLHCAKVLKAIGLQRTGKQEEAFTLAQEVAALEPTDDNSLQALTILYREMHRPELVTKLYEAA
VKKVPNSEEYHSHLFMAYARVGEYKKMQQAGMALYKIVPKNPYYFWSVMSLIMQSISAQDENLSKTMFLPLAERMVEKMVKEDKIEAEAEVELYYMILERLGKYQ
EALDVIRGKLGEKLTSEIQSRENKCMAMYKKLSRWPECNALSRRLLLKNSDDWQFYLTYFDSVFRLIEEAWSPPAEGEHSLEGEVHYSAEKAVKFIEDRITEESK
SSRHLRGPHLAKLELIRRLRSQGCNDEYKLGDPEELMFQYFKKFGDKPCCFTDLKVFVDLLPATQCTKFINQLLGVVPLSTPTEDKLALPADIRALQQHLCVVQL
TRLLGLYHTMDKNQKLSVVRELMLRYQHGLEFGKTCLKTELQFSDYYCLLAVHALIDVWRETGDETTVWQALTLLEEGLTHSPSNAQFKLLLVRIYCMLGAFEPV
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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) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large 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
Hu, 2009_1 mixed lymphoblastoid cell lines 21
(-)
autism with nonaffected sib pairsautism 17
(-)
0.82 Down -
  • Platform: TIGR 40K Human Set
  • ProbeSet: -
  • RefSeq_ID/ EST: AI733697
  • GEO_ID: GSE15402
  • Statistic Method: PCA; SAM by MEV with FDR<0.05
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
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