AutismKB 2.0

Evidence Details for NAA30


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Basic Information Top
Gene Symbol:NAA30 ( C14orf35,FLJ35355,MAK3,MGC141884,MGC141885,Mak3p,NAT12 )
Gene Full Name: N(alpha)-acetyltransferase 30, NatC catalytic subunit
Band: 14q22.2
Quick LinksEntrez ID:122830; OMIM: NA; Uniprot ID:NAA30_HUMAN; ENSEMBL ID: ENSG00000139977; HGNC ID: 19844
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NAA30|122830|nucleotide
ATGGCGGAGGTACCGCCTGGGCCTAGCAGCCTCCTCCCACCACCAGCACCTCCGGCCCCGGCGGCGGTCGAGCCCCGCTGTCCCTTCCCGGCGGGGGCCGCCCTC
GCCTGCTGCAGCGAGGACGAGGAGGACGACGAAGAGCACGAAGGCGGCGGCAGCAGGAGCCCGGCGGGCGGAGAGTCGGCGACGGTGGCGGCCAAGGGGCATCCG
TGCCTCCGCTGCCCTCAGCCGCCGCAGGAGCAGCAGCAGCTCAACGGATTGATTAGCCCCGAACTGCGGCACCTCCGGGCGGCCGCCTCCCTCAAGAGCAAGGTC
CTGAGCGTAGCAGAGGTGGCCGCGACCACAGCCACCCCTGACGGAGGCCCCAGAGCGACTGCAACAAAAGGAGCCGGGGTACACTCGGGCGAGAGGCCCCCTCAC
TCCCTCTCTAGTAATGCAAGAACTGCGGTCCCCAGCCCGGTGGAGGCAGCGGCGGCGAGCGATCCCGCGGCGGCCCGCAATGGACTGGCCGAGGGCACCGAGCAG
GAGGAGGAGGAGGAAGACGAGCAGGTGCGGCTGCTGTCTTCGTCCCTGACCGCCGACTGCAGCTTAAGAAGCCCTTCGGGCAGGGAGGTTGAGCCTGGGGAGGAT
CGGACGATACGATATGTCCGATATGAATCCGAGCTACAAATGCCCGATATCATGAGACTGATCACCAAAGATCTGTCCGAACCCTACTCCATTTATACCTATAGA
TATTTTATCCACAACTGGCCACAGCTGTGCTTCTTGGCCATGGTAGGGGAGGAGTGTGTAGGTGCCATCGTTTGCAAGTTGGATATGCACAAAAAGATGTTCCGC
AGAGGTTATATAGCCATGTTAGCCGTGGATTCCAAATACAGGAGAAATGGCATTGGTACTAACTTGGTTAAGAAAGCTATATATGCCATGGTTGAGGGAGACTGT
GATGAGGTTGTTTTGGAAACCGAAATAACAAATAAGTCCGCTTTGAAACTTTATGAAAATCTTGGTTTTGTTCGAGATAAGAGGCTGTTCAGATACTATTTAAAT
GGAGTTGATGCACTGCGACTTAAACTGTGGCTGCGTTGA
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>NAA30|122830|protein
MAEVPPGPSSLLPPPAPPAPAAVEPRCPFPAGAALACCSEDEEDDEEHEGGGSRSPAGGESATVAAKGHPCLRCPQPPQEQQQLNGLISPELRHLRAAASLKSKV
LSVAEVAATTATPDGGPRATATKGAGVHSGERPPHSLSSNARTAVPSPVEAAAASDPAAARNGLAEGTEQEEEEEDEQVRLLSSSLTADCSLRSPSGREVEPGED
RTIRYVRYESELQMPDIMRLITKDLSEPYSIYTYRYFIHNWPQLCFLAMVGEECVGAIVCKLDMHKKMFRRGYIAMLAVDSKYRRNGIGTNLVKKAIYAMVEGDC
DEVVLETEITNKSALKLYENLGFVRDKRLFRYYLNGVDALRLKLWLR

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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top