Gene Report

Basic Info
Approved Symbol RPGRIP1L
Symbol Alias KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134
Approved Name RPGRIP1-like
Name Alias fantom homolog, "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"
Location 16q12.2
Position chr16:53597683-53703938, -1
External Links HGNC: 29168
Entrez Gene: 23322
Ensembl: ENSG00000103494
UCSC: uc002ehp.3
No. of Studies 1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ? YES
Overlap with MDD? NO
Gene related studies (count: 1)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Schanze, D.,2011 SNP: rs9922369 In a German population, we found none of the GWA risk alleles associated with psychosis. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 32)

GO terms by PBA (count: 0)

GO terms by database search (count: 32)

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors
Gene related SNPs (count: 4)

Literature-origin SNPs (count: 1)

LD-proxies (count: 3)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Overlap with SZ from candidate gene intersection analysis (count: 2)

Gene relationship with MDD

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Region: chr16:53597683..53703938 View in gBrowse
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