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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Leber congenital amaurosis 6 Monarch
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)