AutismKB 2.0

Evidence Details for WDR33


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Basic Information Top
Gene Symbol:WDR33 ( FLJ11294,NET14,WDC146 )
Gene Full Name: WD repeat domain 33
Band: 2q14.3
Quick LinksEntrez ID:55339; OMIM: NA; Uniprot ID:WDR33_HUMAN; ENSEMBL ID: ENSG00000136709; HGNC ID: 25651
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WDR33|55339|nucleotide
ATGGCTACAGAAATTGGTTCTCCTCCTCGTTTTTTCCATATGCCAAGGTTCCAGCACCAGGCACCTCGACAGCTGTTTTATAAGCGACCTGATTTTGCACAACAG
CAAGCAATGCAACAGCTTACTTTTGATGGAAAACGAATGAGAAAAGCTGTGAACCGAAAAACCATAGACTACAATCCATCTGTAATTAAGTATTTGGAGAACAGA
ATATGGCAAAGAGACCAGAGAGATATGCGGGCAATTCAGCCTGATGCAGGTTATTACAATGATCTGGTCCCACCTATAGGAATGTTGAATAATCCTATGAATGCA
GTAACAACAAAATTTGTTCGGACATCAACAAATAAAGTAAAGTGTCCTGTATTTGTTGTTAGGTGGACTCCAGAAGGAAGACGCTTGGTCACTGGAGCTTCTAGT
GGGGAGTTTACCCTGTGGAATGGACTCACTTTCAATTTTGAAACAATATTACAGGCTCACGACAGCCCAGTGAGGGCCATGACGTGGTCACATAATGACATGTGG
ATGTTGACAGCAGACCACGGAGGATATGTGAAATATTGGCAGTCGAACATGAACAACGTCAAGATGTTCCAGGCACATAAGGAGGCGATTAGAGAGGCCAGGTTT
ATACACAATATACCATTTTCTGTAGTCCCTATTGTCATGGTTAAATTATTCTCTAAGTGTATTCTGGGTGCAGAGATGCATGGGCTCTGTCAGTTTCTGGGAAAC
TTTCTGCACCCTATAAACACAATATTTTTCTTTGTTTTCACACATTCACCATTTTGCTGGCACCTTTCTGAAGTAGTGTTGTCCCGGTATCAGCCTTTGCAATAT
GTTAGAGATGTACTGTCTGCCGCATTTTGCACTGGTTTTCTCTTTTCATTTATGATTAATAATGTGTATACGTTATTCCTTTTTATTATCTACTGTGTAAGACAA
GAATATTTCATTCCAAATAAAGAATTCAGTCTTTAA

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>WDR33|55339|protein
MATEIGSPPRFFHMPRFQHQAPRQLFYKRPDFAQQQAMQQLTFDGKRMRKAVNRKTIDYNPSVIKYLENRIWQRDQRDMRAIQPDAGYYNDLVPPIGMLNNPMNA
VTTKFVRTSTNKVKCPVFVVRWTPEGRRLVTGASSGEFTLWNGLTFNFETILQAHDSPVRAMTWSHNDMWMLTADHGGYVKYWQSNMNNVKMFQAHKEAIREARF
IHNIPFSVVPIVMVKLFSKCILGAEMHGLCQFLGNFLHPINTIFFFVFTHSPFCWHLSEVVLSRYQPLQYVRDVLSAAFCTGFLFSFMINNVYTLFLFIIYCVRQ
EYFIPNKEFSL

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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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.
O'Roak BJ, 2014 3486 - 59 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
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