AutismKB 2.0

Evidence Details for DNAJA3


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Basic Information Top
Gene Symbol:DNAJA3 ( FLJ45758,TID1,hTid-1 )
Gene Full Name: DnaJ (Hsp40) homolog, subfamily A, member 3
Band: 16p13.3
Quick LinksEntrez ID:9093; OMIM: 608382; Uniprot ID:DNJA3_HUMAN; ENSEMBL ID: ENSG00000103423; HGNC ID: 11808
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DNAJA3|9093|nucleotide
ATGGCTGCGCGGTGCTCCACACGCTGGTTGCTGGTGGTTGTGGGGACCCCGCGGCTGCCGGCTATATCGGGTAGAGGGGCCCGGCCGCCCAGGGAGGGCGTGGTG
GGGGCATGGCTGAGCCGCAAGCTGAGCGTCCCCGCCTTTGCGTCTTCCCTGACCTCTTGCGGCCCCCGAGCGCTGCTGACATTGAGACCTGGTGTCAGCCTTACA
GGAACAAAACATAACCCTTTCATTTGTACTGCCTCCTTCCACACGAGTGCCCCTTTGGCCAAAGAAGATTATTATCAGATATTAGGAGTGCCTCGAAATGCCAGC
CAGAAAGAGATCAAGAAAGCCTATTATCAGCTTGCCAAGAAGTATCACCCTGACACAAATAAGGATGATCCCAAAGCCAAGGAGAAGTTCTCCCAGCTGGCAGAA
GCCTATGAGGTTTTGAGTGATGAGGTGAAGAGGAAGCAGTACGATGCCTACGGCTCTGCAGGCTTCGATCCTGGGGCCAGCGGCTCCCAGCATAGCTACTGGAAG
GGAGGCCCCACTGTGGACCCCGAGGAGCTGTTCAGGAAGATCTTTGGCGAGTTCTCATCCTCTTCATTTGGAGATTTCCAGACCGTGTTTGATCAGCCTCAGGAA
TACTTCATGGAGTTGACATTCAATCAAGCTGCAAAGGGGGTCAACAAGGAGTTCACCGTGAACATCATGGACACGTGTGAGCGCTGCAACGGCAAGGGGAACGAG
CCCGGCACCAAGGTGCAGCATTGCCACTACTGTGGCGGCTCCGGCATGGAAACCATCAACACAGGCCCTTTTGTGATGCGTTCCACGTGTAGGAGATGTGGTGGC
CGCGGCTCCATCATCATATCGCCCTGTGTGGTCTGCAGGGGAGCAGGACAAGCCAAGCAGAAAAAGCGAGTGATGATCCCTGTGCCTGCAGGAGTCGAGGATGGC
CAGACCGTGAGGATGCCTGTGGGAAAAAGGGAAATTTTCATTACGTTCAGGGTGCAGAAAAGCCCTGTGTTCCGGAGGGACGGCGCAGACATCCACTCCGACCTC
TTTATTTCTATAGCTCAGGCTCTTCTTGGGGGTACAGCCAGAGCCCAGGGCCTGTACGAGACGATCAACGTGACGATCCCCCCTGGGACTCAGACAGACCAGAAG
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>DNAJA3|9093|protein
MAARCSTRWLLVVVGTPRLPAISGRGARPPREGVVGAWLSRKLSVPAFASSLTSCGPRALLTLRPGVSLTGTKHNPFICTASFHTSAPLAKEDYYQILGVPRNAS
QKEIKKAYYQLAKKYHPDTNKDDPKAKEKFSQLAEAYEVLSDEVKRKQYDAYGSAGFDPGASGSQHSYWKGGPTVDPEELFRKIFGEFSSSSFGDFQTVFDQPQE
YFMELTFNQAAKGVNKEFTVNIMDTCERCNGKGNEPGTKVQHCHYCGGSGMETINTGPFVMRSTCRRCGGRGSIIISPCVVCRGAGQAKQKKRVMIPVPAGVEDG
QTVRMPVGKREIFITFRVQKSPVFRRDGADIHSDLFISIAQALLGGTARAQGLYETINVTIPPGTQTDQKIRMGGKGIPRINSYGYGDHYIHIKIRVPKRLTSRQ
QSLILSYAEDETDVEGTVNGVTLTSSGKRSTGN
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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 (2) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 2 (5)
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
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 screenautism 115 - 115 - - - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
NGS Other Studies Top
Low Scale Gene Studies Top

Contact 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.

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