AutismKB 2.0

Evidence Details for DNAJB9


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Basic Information Top
Gene Symbol:DNAJB9 ( DKFZp564F1862,ERdj4,MDG1,MST049,MSTP049 )
Gene Full Name: DnaJ (Hsp40) homolog, subfamily B, member 9
Band: 7q31.1
Quick LinksEntrez ID:4189; OMIM: 602634; Uniprot ID:DNJB9_HUMAN; ENSEMBL ID: ENSG00000128590; HGNC ID: 6968
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DNAJB9|4189|nucleotide
ATGGCTACTCCCCAGTCAATTTTCATCTTTGCAATCTGCATTTTAATGATAACAGAATTAATTCTGGCCTCAAAAAGCTACTATGATATCTTAGGTGTGCCAAAA
TCGGCATCAGAGCGCCAAATCAAGAAGGCCTTTCACAAGTTGGCCATGAAGTACCACCCTGACAAAAATAAGAGCCCGGATGCTGAAGCAAAATTCAGAGAGATT
GCAGAAGCATATGAAACACTCTCAGATGCTAATAGACGAAAAGAGTATGATACACTTGGACACAGTGCTTTTACTAGTGGTAAAGGACAAAGAGGTAGTGGAAGT
TCTTTTGAGCAGTCATTTAACTTCAATTTTGATGACTTATTTAAAGACTTTGGCTTTTTTGGTCAAAACCAAAACACTGGATCCAAGAAGCGTTTTGAAAATCAT
TTCCAGACACGCCAGGATGGTGGTTCCAGTAGACAAAGGCATCATTTCCAAGAATTTTCTTTTGGAGGTGGATTATTTGATGACATGTTTGAAGATATGGAGAAA
ATGTTTTCTTTTAGTGGTTTTGACTCTACCAATCAGCATACAGTACAGACTGAAAATAGATTTCATGGATCTAGCAAGCACTGCAGGACTGTCACTCAACGAAGA
GGAAATATGGTTACTACATACACTGACTGTTCAGGACAGTAG




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>DNAJB9|4189|protein
MATPQSIFIFAICILMITELILASKSYYDILGVPKSASERQIKKAFHKLAMKYHPDKNKSPDAEAKFREIAEAYETLSDANRRKEYDTLGHSAFTSGKGQRGSGS
SFEQSFNFNFDDLFKDFGFFGQNQNTGSKKRFENHFQTRQDGGSSRQRHHFQEFSFGGGLFDDMFEDMEKMFSFSGFDSTNQHTVQTENRFHGSSKHCRTVTQRR
GNMVTTYTDCSGQ


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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) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Liu, 2001 USA microsatellite-based genomic screenautism, ASD 110 - 110 - - - -
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
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
NGS Mosaic SNV Studies Top
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.

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  (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