Evidence Detail for RPGRIP1L

View Evidences View Annotations
Basic Information Top
Gene Symbol:RPGRIP1L ( CORS3,DKFZp686C0668,FTM,JBTS7,KIAA1005,MKS5,NPHP8 )
Gene Full Name: RPGRIP1-like
Band: 16q12.2
Quick LinksEntrez ID:23322; OMIM: 610937; Uniprot ID:FTM_HUMAN; ENSEMBL ID: ENSG00000103494
Sequences Top
Show »

Show »

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) Yes 0 (0) 0 (0) 1 (1) 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.
OMIMCOACH syndrome (216360)
DescriptionJoubert syndrome 7, Meckel syndrome, COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
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
AutCNV0000433 16 16q12.2 Loss 1 - Denovo CNVs; Gregory, 2009
Linkage 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.

Quick Search:

  (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
  • Click to Download Data

Registered with NIF