AutismKB

Evidence Detail for PAX3


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Basic Information Top
Gene Symbol:PAX3 ( CDHS,HUP2,MGC120381,MGC120382,MGC120383,MGC120384,MGC134778,WS1,WS3 )
Gene Full Name: paired box 3
Band: 2q35-q37|2q35
Quick LinksEntrez ID:5077; OMIM: 606597; Uniprot ID:PAX3_HUMAN; ENSEMBL ID: ENSG00000135903
Sequences Top
>PAX3|5077|nucleotide
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>PAX3|5077|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 7 (1)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Borg, 2002_1 human blood--AD case report
  • Subjects: 1
  • Normal Controls: -
  • Methods: FISH, STS mapping
  • Evidence Details: A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top

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  (e.g. CDH8)

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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