Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57096
MIM: 605446
HGNC: 13436
Ensembl: ENSG00000092200
Variants:
dbSNP: 57096
ClinVar: 57096
TCGA: ENSG00000092200
COSMIC: RPGRIP1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36762997 | 2023 | RPGRIP1-related retinal disease presenting as isolated cone dysfunction. | 1 |
| 36762997 | 2023 | RPGRIP1-related retinal disease presenting as isolated cone dysfunction. | 1 |
| 33670832 | 2021 | Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort. | 4 |
| 33907365 | 2021 | Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations. | 7 |
| 33970760 | 2021 | Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China. | 5 |
| 33670832 | 2021 | Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort. | 4 |
| 33907365 | 2021 | Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations. | 7 |
| 33970760 | 2021 | Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China. | 5 |
| 32865313 | 2020 | Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. | 11 |
| 32865313 | 2020 | Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. | 11 |
| 30498907 | 2019 | Thumb duplication: molecular analysis of different clinical types. | 2 |
| 30498907 | 2019 | Thumb duplication: molecular analysis of different clinical types. | 2 |
| 29193763 | 2018 | Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing. | 15 |
| 29650680 | 2018 | Cell type-specific regulation of ciliary transition zone assembly in vertebrates. | 36 |
| 29193763 | 2018 | Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing. | 15 |
Citation
Dessen P
RPGRIP1 (RPGR interacting protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56179/rpgrip1-(rpgr-interacting-protein-1)
