Evidence Detail for RPGRIP1

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Basic Information Top
Gene Full Name: retinitis pigmentosa GTPase regulator interacting protein 1
Band: 14q11
Quick LinksEntrez ID:57096; OMIM: 605446; Uniprot ID:RPGR1_HUMAN; ENSEMBL ID: ENSG00000092200
Sequences Top
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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 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 1 (1) 9 (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
Myers, 2011_1 human Epstein-Barr Virus transformed lymphoblastoid cell lineASD mutation screen and evolution analysis
  • Subjects: 102
  • Normal Controls: 285
  • Methods: Sanger sequencing of exon
  • Evidence Details: The gene exhibits excesses of rare variants with nominal P value.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0002060 14 14q11.2 loss 1 - paternal Pinto, 2010
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
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