AutismKB 2.0

Evidence Details for WDR1


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Basic Information Top
Gene Symbol:WDR1 ( AIP1,NORI-1 )
Gene Full Name: WD repeat domain 1
Band: 4p16.1
Quick LinksEntrez ID:9948; OMIM: 604734; Uniprot ID:WDR1_HUMAN; ENSEMBL ID: ENSG00000071127; HGNC ID: 12754
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WDR1|9948|nucleotide
ATGCCGTACGAGATCAAGAAGGTGTTCGCCAGCCTCCCGCAGGTGGAGAGGGGCGTCTCCAAGATCATCGGCGGCGACCCTAAGGGCAACAATTTTCTGTACACC
AATGGAAAGTGCGTCATCCTAAGGAACATCGACGACCACAGCCGCTTTGTCAACTGTGTGCGATTCTCTCCTGATGGGAACAGATTTGCCACAGCCAGTGCTGAC
GGCCAGATATACATCTATGACGGGAAGACTGGGGAGAAGGTGTGCGCGCTGGGCGGAAGCAAGGCCCACGACGGTGGGATTTACGCAATTAGTTGGAGTCCCGAC
AGCACCCATTTGCTTTCTGCTTCTGGGGACAAAACTTCCAAGATTTGGGACGTCAGCGTGAACTCCGTGGTCAGCACATTTCCCATGGGCTCCACGGTTCTGGAC
CAGCAGCTGGGCTGCCTATGGCAGAAGGACCACCTGCTCAGTGTCTCCCTGTCCGGGTACATCAACTATCTGGACAGAAACAACCCCAGCAAGCCCCTGCACGTC
ATCAAGGGTCACAGTAAATCGATCCAGTGTCTGACGGTGCATAAAAACGGCGGCAAGTCCTACATTTACTCTGGGAGCCACGACGGACACATTAATTACTGGGAT
TCAGAGACGGGGGAGAACGACTCCTTCGCTGGGAAAGGCCACACGAACCAGGTGTCCAGGATGACCGTGGATGAGTCGGGGCAGCTCATCAGCTGCAGCATGGAC
GACACCGTGCGGTACACCAGCCTCATGCTGCGGGACTACAGCGGACAAGGAGTTGTGAAACTGGACGTTCAGCCAAAGTGCGTAGCCGTCGGCCCCGGGGGATAC
GCCGTGGTCGTGTGCATTGGACAGATTGTCCTGCTGAAGGATCAGAGGAAGTGCTTCAGCATCGACAACCCCGGCTACGAGCCCGAAGTTGTGGCAGTGCACCCC
GGCGGGGACACGGTGGCAATTGGGGGTGTGGACGGCAACGTCCGCCTGTATTCCATCCTGGGCACCACGCTGAAGGATGAGGGCAAGCTCCTAGAGGCCAAGGGC
CCCGTGACCGACGTGGCCTACTCCCACGACGGCGCCTTCCTCGCGGTGTGCGACGCCAGCAAGGTGGTCACAGTGTTCAGCGTTGCTGACGGCTACTCGGAGAAC
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>WDR1|9948|protein
MPYEIKKVFASLPQVERGVSKIIGGDPKGNNFLYTNGKCVILRNIDDHSRFVNCVRFSPDGNRFATASADGQIYIYDGKTGEKVCALGGSKAHDGGIYAISWSPD
STHLLSASGDKTSKIWDVSVNSVVSTFPMGSTVLDQQLGCLWQKDHLLSVSLSGYINYLDRNNPSKPLHVIKGHSKSIQCLTVHKNGGKSYIYSGSHDGHINYWD
SETGENDSFAGKGHTNQVSRMTVDESGQLISCSMDDTVRYTSLMLRDYSGQGVVKLDVQPKCVAVGPGGYAVVVCIGQIVLLKDQRKCFSIDNPGYEPEVVAVHP
GGDTVAIGGVDGNVRLYSILGTTLKDEGKLLEAKGPVTDVAYSHDGAFLAVCDASKVVTVFSVADGYSENNVFYGHHAKIVCLAWSPDNEHFASGGMDMMVYVWT
LSDPETRVKIQDAHRLHHVSSLAWLDEHTLVTTSHDASVKEWTITY
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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) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 11 (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
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
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Garbett, 2008_1 Unknown superior temporal gyrus (STG) 6
(33.33%)
---autism 6
(33.33%)
2.94383 Up 0.00570739
  • Platform: Affymetrix Human Genome 133 plus 2 microarrays
  • ProbeSet: 240282_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: pairwise/groupwise two-tailed t-test between the RMA intensities of AUT and CONT samples
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Chen R, 2017 107 116 128 Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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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