AutismKB


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Evidence Detail for FBXO33


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Basic Information Top
Gene Symbol:FBXO33 ( BMND12,Fbx33,c14_5247 )
Gene Full Name: F-box protein 33
Band: 14q21.1
Quick LinksEntrez ID:254170; OMIM: 609103; Uniprot ID:FBX33_HUMAN; ENSEMBL ID: ENSG00000165355
Sequences Top
>FBXO33|254170|nucleotide
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>FBXO33|254170|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 2 (3) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 19 (4)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Wang, 2009_1 Discovery 2 (detail) 780 1299
(-)
ASD -
-
-
-
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Wang, 2009_2 Discovery 2 (detail) 1204
(-)
ASD 10.3±6.6
-
10.9±6.7 6491
(-)
8.8±5.4
-
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Casey, 2011_1 human bloodASD Homozygous Haplotye mapping
  • Subjects: 2584 trios
  • Normal Controls: -
  • Methods: Illumina 1M/1Mduo Genechip
  • Evidence Details: Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.156).
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
  • Click to Download Data

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