AutismKB 2.0

Evidence Details for WDR93


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Basic Information Top
Gene Symbol:WDR93 ( - )
Gene Full Name: WD repeat domain 93
Band: 15q26.1
Quick LinksEntrez ID:56964; OMIM: NA; Uniprot ID:WDR93_HUMAN; ENSEMBL ID: ENSG00000140527; HGNC ID: 26924
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WDR93|56964|nucleotide
ATGTCATTCCCAAGAGGAAGTCAGACCCAGAAAATAAAGCACCCCATTGGTACACGAAAGGGACCATTGGAGGTGCCACCCCCAACAGAGAAGGACTGGCCTAAA
GACGATGAACAGGATCATGTCCTCGTGGATCCAGATGAGGAGCTGGATTCCTTGCCTCAGCCTTATCGAATGATCAACAAGCTGGTGAACCTTCTGTTTGACCAG
TCTTGGGAAATTATTGAAGAGAGAAACGCACTGAGGGAAGCTGAGAGCAGCCAGATCCAGCCCACCGTCTACCCTCCACTTGGAGAAATCCAGCTCAACAAAATG
CCAAATTGTATGGCTGTTTCCCAAGACTATGTGTTTATTGGAGGAGCCAAAGGATTCTCAATTTATAATCTGTACAGTGCTAAACAAATATATGCGTGGGAGAAG
CTTAAGGTTGATGTCACTTCCATCTGGGCCACAGATTTAGGGAATGAAATACTCATTGCTCCTGTGGATGAAATGGGTATCATTAGACTCTTTTATTTTTATAAG
GAAGGACTTTACCTAGTCAAAGCCATCAATGAAGTGGATGATACCAGCAAGCAAACTACCTGTATAAAGATGGAGATCTCTCAAGGAGGGGACTTTGCAGCCTTC
CTCCTACAAGGAGCCGGAGATATTTGGCTGGATGTGTATAAATTGCCCAAGGAGACTTGGCTCAAGAAACTAGAGCACCCCCAACTCACTTCAAATCCAAAGAAA
AAAGTCAGACAGCCGCAACTGAACTCCCTTGGTCCCATTTCTGCAGATCCTTTAGAAATGGATGCAAATGTTAGTTTTAAAGGAGACATTAAATTGAGTCTTCCA
GTTTACATAATGAAGATCAAACCACCTAAGCCTGTTACAGGCACCACATTCAAAAGCCCCCTGGAAGTCTTTGCAAAGATCAAGGACTGCTACGGACTGGGCTCC
GGGCAGAATCATTTCATCAAGGACAGTCAGTGGGAGCAGCAAGCTGAGATCTTCAACGCTTCCTACAAGAAGTACCTAGATAGGGAGTGGGAGGAAGAGCCACTC
AGTACGGCCACCTTCTATTTCCTTCTTCCTAGCTGCCTATTTGCAATGCCACCGGAAGTCAAGGGCCCCTCAGGAATGGCCTGTGTCCTTGGTATACACTGGACC
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>WDR93|56964|protein
MSFPRGSQTQKIKHPIGTRKGPLEVPPPTEKDWPKDDEQDHVLVDPDEELDSLPQPYRMINKLVNLLFDQSWEIIEERNALREAESSQIQPTVYPPLGEIQLNKM
PNCMAVSQDYVFIGGAKGFSIYNLYSAKQIYAWEKLKVDVTSIWATDLGNEILIAPVDEMGIIRLFYFYKEGLYLVKAINEVDDTSKQTTCIKMEISQGGDFAAF
LLQGAGDIWLDVYKLPKETWLKKLEHPQLTSNPKKKVRQPQLNSLGPISADPLEMDANVSFKGDIKLSLPVYIMKIKPPKPVTGTTFKSPLEVFAKIKDCYGLGS
GQNHFIKDSQWEQQAEIFNASYKKYLDREWEEEPLSTATFYFLLPSCLFAMPPEVKGPSGMACVLGIHWTRSHNFFLYSLNRTLKDKADPEGVWPCAAPIAVSQL
SCSSSYLVLACEDGVLTLWDLAKGFPLGVAALPQGCFCQSIHFLKYFSVHKGQNMYPEGQVKSQMKCVVLCTDASLHLVEASGTQGPTISVLVERPVKHLDKTIC
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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) 1 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (4)
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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Risch, 1999 USA microsatellite-based genomic screenPDD 90 - 90 - - - -
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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  (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