AutismKB 2.0

Evidence Details for WDR60


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Basic Information Top
Gene Symbol:WDR60 ( FLJ10300,FLJ23575 )
Gene Full Name: WD repeat domain 60
Band: 7q36.3
Quick LinksEntrez ID:55112; OMIM: NA; Uniprot ID:WDR60_HUMAN; ENSEMBL ID: ENSG00000126870; HGNC ID: 21862
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WDR60|55112|nucleotide
ATGGAGCCCGGGAAGAGAAGAACCAAAGATGATACCTGGAAAGCAGATGACCTCAGAAAACATCTCTGGGCCATACAGTCAGGTGGTTCCAAGGAAGAAAGAAAG
CACAGAGAGAAGAAGCTGCGTAAGGAGTCTGAGATGGACCTTCCTGAACATAAGGAGCCGAGGTGCAGGGATCCCGACCAGGATGCCAGGAGCAGAGACAGGGTG
GCCGAAGTCCACACCGCTAAGGAGAGTCCTCGTGGGGAGAGGGACAGAGACAGACAGAGGGAGAGGAGAAGAGACGCAAAAGACCGGGAGAAAGAAAAGCTGAAG
GAGAAACATCGAGAGGCAGAAAAGTCTCACAGCAGAGGAAAGGACAGGGAAAAAGAAAAAGACAGAAGGGCCCGGAAGGAAGAGCTCCGGCAGACCGTGGCCCAC
CACAACCTGCTGGGCCAGGAGACACGCGACCGGCAGCTCCTGGAGCGGGCGGAGAGGAAAGGCCGCTCAGTAAGTAAAGTAAGAAGTGAAGAGAAAGATGAAGAC
TCTGAAAGAGGAGATGAAGATAGAGAAAGAAGATACCGAGAAAGAAAGCTGCAGTACGGAGACAGCAAGGACAACCCTCTCAAGTACTGGCTTTATAAAGAAGAA
GGCGAGAGGAGACACAGGAAGCCCAGAGAGCCAGATCGAGACAACAAACACCGAGAAAAAAGCAGCACAAGGGAAAAAAGAGAGAAATATTCCAAAGAGAAAAGT
AATTCATTCTCTGACAAAGGGGAAGAAAGACATAAAGAAAAGCGACACAAAGAAGGTTTTCATTTTGATGATGAGAGGCACCAAAGCAACGTGGATAGAAAAGAG
AAATCGGCAAAAGATGAGCCCAGGAAAAGGGAATCCCAGAATGGTGAACACAGAAATCGAGGTGCAAGCTCAAAAAGAGATGGGACCAGCAGCCAGCATGCTGAG
AATTTAGTAAGGAATCATGGAAAAGATAAAGATTCAAGACGGAAGCATGGCCACGAGGAAGGCTCTTCTGTGTGGTGGAAGCTGGACCAGAGGCCGGGAGGCGAG
GAAACCGTGGAAATTGAAAAGGAAGAAACTGATTTAGAAAATGCTAGAGCTGATGCATATACAGCCAGTTGTGAAGATGATTTTGAAGACTATGAAGATGACTTT
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>WDR60|55112|protein
MEPGKRRTKDDTWKADDLRKHLWAIQSGGSKEERKHREKKLRKESEMDLPEHKEPRCRDPDQDARSRDRVAEVHTAKESPRGERDRDRQRERRRDAKDREKEKLK
EKHREAEKSHSRGKDREKEKDRRARKEELRQTVAHHNLLGQETRDRQLLERAERKGRSVSKVRSEEKDEDSERGDEDRERRYRERKLQYGDSKDNPLKYWLYKEE
GERRHRKPREPDRDNKHREKSSTREKREKYSKEKSNSFSDKGEERHKEKRHKEGFHFDDERHQSNVDRKEKSAKDEPRKRESQNGEHRNRGASSKRDGTSSQHAE
NLVRNHGKDKDSRRKHGHEEGSSVWWKLDQRPGGEETVEIEKEETDLENARADAYTASCEDDFEDYEDDFEVCDGDDDESSNEPESREKLEELPLAQKKEIQEIQ
RAINAENERIGELSLKLFQKRGRTEFEKEPRTDTNSSPSRASVCGIFVDFASASHRQKSRTQALKQKMRSTKLLRLIDLDFSFTFSLLDLPPVNEYDMYIRNFGK
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (3)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
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
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
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