AutismKB 2.0

Evidence Details for DNAJC6


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Basic Information Top
Gene Symbol:DNAJC6 ( DJC6,KIAA0473,MGC129914,MGC129915,MGC48436 )
Gene Full Name: DnaJ (Hsp40) homolog, subfamily C, member 6
Band: 1p31.3
Quick LinksEntrez ID:9829; OMIM: 608375; Uniprot ID:AUXI_HUMAN; ENSEMBL ID: ENSG00000116675; HGNC ID: 15469
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DNAJC6|9829|nucleotide
ATGAAAGATTCTGAAAATAAAGGTGCCTCATCTCCAGACATGGAGCCCAGCTATGGGGGAGGTCTCTTTGACATGGTAAAAGGAGGTGCAGGGAGGCTCTTTAGT
AACCTAAAGGACAACTTGAAAGACACCCTCAAAGACACATCTTCTAGAGTGATACAATCTGTGACCAGCTACACAAAGGGAGATTTAGACTTCACTTATGTTACC
TCCAGAATTATTGTGATGTCCTTTCCTCTGGACAATGTTGACATAGGATTCAGGAATCAGGTTGATGACATTCGAAGCTTTTTGGATTCCAGACATCTTGACCAC
TACACAGTATACAATCTGTCACCTAAGTCTTATCGAACTGCCAAGTTTCACAGCCGGGTCTCAGAATGCAGTTGGCCCATTAGGCAGGCTCCCAGTCTGCACAAC
CTTTTTGCTGTGTGTCGGAATATGTATAACTGGCTACTGCAGAATCCCAAAAATGTCTGTGTTGTCCACTGCTTGGATGGACGGGCGGCATCATCAATTCTGGTT
GGTGCTATGTTCATTTTCTGTAATCTCTACTCTACTCCTGGCCCAGCCATTCGATTGCTATATGCAAAGCGACCAGGAATTGGACTTTCACCATCCCATAGGAGA
TACCTGGGCTATATGTGTGACCTACTGGCAGACAAGCCCTACCGCCCTCACTTCAAGCCTCTCACAATTAAGTCGATCACTGTCAGTCCAATACCCTTTTTCAAC
AAACAGAGGAATGGATGTCGCCCTTACTGTGATGTACTCATTGGAGAAACCAAAATATATTCGACTTGCACAGATTTTGAACGAATGAAAGAATATCGTGTCCAA
GATGGAAAAATCTTCATTCCCTTGAACATCACTGTGCAAGGAGACGTGGTTGTTTCCATGTATCACTTGAGGTCAACCATTGGGAGCCGGCTACAGGCTAAGGTG
ACCAACACACAGATATTCCAGCTTCAGTTTCACACTGGATTCATACCACTGGACACAACAGTTTTAAAGTTCACCAAGCCTGAGTTAGATGCATGTGATGTACCA
GAAAAATATCCTCAGCTATTTCAGGTGACACTGGATGTAGAACTACAGCCCCATGACAAAGTAATAGACTTAACTCCACCATGGGAACATTACTGCACAAAAGAT
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>DNAJC6|9829|protein
MKDSENKGASSPDMEPSYGGGLFDMVKGGAGRLFSNLKDNLKDTLKDTSSRVIQSVTSYTKGDLDFTYVTSRIIVMSFPLDNVDIGFRNQVDDIRSFLDSRHLDH
YTVYNLSPKSYRTAKFHSRVSECSWPIRQAPSLHNLFAVCRNMYNWLLQNPKNVCVVHCLDGRAASSILVGAMFIFCNLYSTPGPAIRLLYAKRPGIGLSPSHRR
YLGYMCDLLADKPYRPHFKPLTIKSITVSPIPFFNKQRNGCRPYCDVLIGETKIYSTCTDFERMKEYRVQDGKIFIPLNITVQGDVVVSMYHLRSTIGSRLQAKV
TNTQIFQLQFHTGFIPLDTTVLKFTKPELDACDVPEKYPQLFQVTLDVELQPHDKVIDLTPPWEHYCTKDVNPSILFSSHQEHQDTLALGGQAPIDIPPDNPRHY
GQSGFFASLCWQDQKSEKSFCEEDHAALVNQESEQSDDELLTLSSPHGNANGDKPHGVKKPSKKQQEPAAPPPPEDVDLLGLEGSAMSNSFSPPAAPPTNSELLS
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
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