RPGRIP1
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
RPGRIP1 (HGNC:13436) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
RPGR interacting protein 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
RPGRIP
Alias symbols
RGI1, LCA6, CORD13
%HI
59.78(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.92(Read more about gnomAD LOEUF score)
Cytoband
14q11.2
Genomic Coordinates
GRCh37/hg19: chr14:21748242-21819460 NCBI Ensembl UCSC
GRCh38/hg38: chr14:21280083-21351301 NCBI Ensembl UCSC
MANE Select Transcript
NM_020366.4 ENST00000400017.7 (Read more about MANE Select)
Function
May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells. {ECO:0000250|UniProtKB:Q9EPQ2, ECO:0000305|PubMed:10958648}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-29817
ClinGen Curation ID:
CCID:007780
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)