AutismKB 2.0

Evidence Details for DDX58


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Basic Information Top
Gene Symbol:DDX58 ( DKFZp434J1111,DKFZp686N19181,FLJ13599,RIG-I )
Gene Full Name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
Band: 9p21.1
Quick LinksEntrez ID:23586; OMIM: 609631; Uniprot ID:DDX58_HUMAN; ENSEMBL ID: ENSG00000107201; HGNC ID: 19102
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DDX58|23586|nucleotide
ATGACCACCGAGCAGCGACGCAGCCTGCAAGCCTTCCAGGATTATATCCGGAAGACCCTGGACCCTACCTACATCCTGAGCTACATGGCCCCCTGGTTTAGGGAG
GAAGAGGTGCAGTATATTCAGGCTGAGAAAAACAACAAGGGCCCAATGGAGGCTGCCACACTTTTTCTCAAGTTCCTGTTGGAGCTCCAGGAGGAAGGCTGGTTC
CGTGGCTTTTTGGATGCCCTAGACCATGCAGGTTATTCTGGACTTTATGAAGCCATTGAAAGTTGGGATTTCAAAAAAATTGAAAAGTTGGAGGAGTATAGATTA
CTTTTAAAACGTTTACAACCAGAATTTAAAACCAGAATTATCCCAACCGATATCATTTCTGATCTGTCTGAATGTTTAATTAATCAGGAATGTGAAGAAATTCTA
CAGATTTGCTCTACTAAGGGGATGATGGCAGGTGCAGAGAAATTGGTGGAATGCCTTCTCAGATCAGACAAGGAAAACTGGCCCAAAACTTTGAAACTTGCTTTG
GAGAAAGAAAGGAACAAGTTCAGTGAACTGTGGATTGTAGAGAAAGGTATAAAAGATGTTGAAACAGAAGATCTTGAGGATAAGATGGAAACTTCTGACATACAG
ATTTTCTACCAAGAAGATCCAGAATGCCAGAATCTTAGTGAGAATTCATGTCCACCTTCAGAAGTGTCTGATACAAACTTGTACAGCCCATTTAAACCAAGAAAT
TACCAATTAGAGCTTGCTTTGCCTGCTATGAAAGGAAAAAACACAATAATATGTGCTCCTACAGGTTGTGGAAAAACCTTTGTTTCACTGCTTATATGTGAACAT
CATCTTAAAAAATTCCCACAAGGACAAAAGGGGAAAGTTGTCTTTTTTGCGAATCAGATCCCAGTGTATGAACAGCAGAAATCTGTATTCTCAAAATACTTTGAA
AGACATGGGTATAGAGTTACAGGCATTTCTGGAGCAACAGCTGAGAATGTCCCAGTGGAACAGATTGTTGAGAACAATGACATCATCATTTTAACTCCACAGATT
CTTGTGAACAACCTTAAAAAGGGAACGATTCCATCACTATCCATCTTTACTTTGATGATATTTGATGAATGCCACAACACTAGTAAACAACACCCGTACAATATG
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>DDX58|23586|protein
MTTEQRRSLQAFQDYIRKTLDPTYILSYMAPWFREEEVQYIQAEKNNKGPMEAATLFLKFLLELQEEGWFRGFLDALDHAGYSGLYEAIESWDFKKIEKLEEYRL
LLKRLQPEFKTRIIPTDIISDLSECLINQECEEILQICSTKGMMAGAEKLVECLLRSDKENWPKTLKLALEKERNKFSELWIVEKGIKDVETEDLEDKMETSDIQ
IFYQEDPECQNLSENSCPPSEVSDTNLYSPFKPRNYQLELALPAMKGKNTIICAPTGCGKTFVSLLICEHHLKKFPQGQKGKVVFFANQIPVYEQQKSVFSKYFE
RHGYRVTGISGATAENVPVEQIVENNDIIILTPQILVNNLKKGTIPSLSIFTLMIFDECHNTSKQHPYNMIMFNYLDQKLGGSSGPLPQVIGLTASVGVGDAKNT
DEALDYICKLCASLDASVIATVKHNLEELEQVVYKPQKFFRKVESRISDKFKYIIAQLMRDTESLAKRICKDLENLSQIQNREFGTQKYEQWIVTVQKACMVFQM
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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
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
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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  (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