AutismKB

Evidence Detail for PQBP1


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Basic Information Top
Gene Symbol:PQBP1 ( MRX55,MRXS3,MRXS8,NPW38,RENS1,SHS )
Gene Full Name: polyglutamine binding protein 1
Band: Xp11.23
Quick LinksEntrez ID:10084; OMIM: 300463; Uniprot ID:PQBP1_HUMAN; ENSEMBL ID: ENSG00000102103
Sequences Top
>PQBP1|10084|nucleotide
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>PQBP1|10084|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) Yes 0 (0) 0 (0) 1 (5) 0 (0) 0 (0) 0 (0) 2 (0)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMRenpenning syndrome (309500)
DescriptionLarge spectrum of ID phenotypes, including Renpenning syndrome (microcephaly, short stature, small testes and dysmorphic features) and non-syndromic ID
Reference(s)16493439; 15782410;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000162 X Xp11.23-p11.22 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000713 X Xp11.2-p22.33 gain 1 - CNVs Only Present In Patients; Edens, 2011
AutCNV0000714 X Xp11.22-p11.23 gain 1 - CNVs Only Present In Patients; Edens, 2011
AutCNV0003118 X Xp11.22-p11.23 gain 1 - CNVs Only Present In Patients; Chung, 2011
AutCNV0004400 X Xp11.22-p11.23 gain 1 - CNVs Only Present In Patients; Sanders, 2011
Linkage Studies Top

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  (e.g. NLGN4X)

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
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