HGNC Family | C2 domain containing, Protein phosphatase 1 regulatory subunits (PPP1R) |
Name | RPGRIP1-like |
Description | The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016] |
Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRPGRIP1L encodes a ciliary basal body and transition zone protein that functions as a molecular scaffold to organize multiple protein complexes essential for cilium assembly and maintenance. In particular, RPGRIP1L interacts with key ciliary proteins such as nephrocystin‐4 and RPGR, and it recruits signaling molecules like NEK4 to regulate ciliary gating and stability, thereby ensuring proper ciliogenesis. This central role in organizing the ciliary compartment has been demonstrated by its localization to basal bodies and the transition zone, as well as by its participation in distinct protein complexes whose integrity is critical for cilia function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in RPGRIP1L have been causatively linked to a spectrum of ciliopathies—including Joubert syndrome type B and Meckel-Gruber syndrome—and can modify the severity of related phenotypes such as retinal degeneration. Missense and truncating mutations in RPGRIP1L disrupt its normal protein–protein interactions, thereby impairing ciliary function and contributing to the multiorgan defects characteristic of these disorders. In some cases, compound heterozygosity involving RPGRIP1L in combination with mutations in other ciliary genes further exacerbates the clinical features, underscoring its pivotal position in ciliary signaling networks."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "12"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its canonical role in the ciliary compartment, emerging evidence suggests that RPGRIP1L may also influence additional cellular processes. Alterations in its activity have been associated with dysfunctional cell cycle regulation and aberrant mitotic checkpoint control, as indicated by effects on proteins like Mad2. Moreover, RPGRIP1L appears to contribute to the maintenance of epidermal cell–cell junctions through regulation of desmosomal protein endocytosis and has been implicated in genetic association studies of metabolic and neurovascular traits. These non‐ciliary associations point to broader roles for RPGRIP1L in cellular homeostasis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "13", "end_ref": "18"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Heleen H Arts, Dan Doherty, Sylvia E C van Beersum, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng2069"}], "href": "https://doi.org/10.1038/ng2069"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17558407"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17558407"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Marion Delous, Lekbir Baala, Rémi Salomon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng2039"}], "href": "https://doi.org/10.1038/ng2039"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17558409"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17558409"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "George Stratigopoulos, Stephanie L Padilla, Charles A LeDuc, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Regulation of Fto/Ftm gene expression in mice and humans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Regul Integr Comp Physiol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpregu.00839.2007"}], "href": "https://doi.org/10.1152/ajpregu.00839.2007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18256137"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18256137"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Karlien L M Coene, Dorus A Mans, Karsten Boldt, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddr280"}], "href": "https://doi.org/10.1093/hmg/ddr280"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21685204"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21685204"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "L H P Assis, R M P Silva-Junior, L G Dolce, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep43692"}], "href": "https://doi.org/10.1038/srep43692"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28266547"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28266547"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Antonia Wiegering, Renate Dildrop, Lisa Kalfhues, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cell type-specific regulation of ciliary transition zone assembly in vertebrates."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.15252/embj.201797791"}], "href": "https://doi.org/10.15252/embj.201797791"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29650680"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29650680"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Antonia Wiegering, Renate Dildrop, Christine Vesque, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.E20-03-0190"}], "href": "https://doi.org/10.1091/mbc.E20-03-0190"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33625872"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33625872"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Christine Vössing, Paul Atigbire, Jannis Eilers, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms22073583"}], "href": "https://doi.org/10.3390/ijms22073583"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33808286"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33808286"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "F Brancati, L Travaglini, D Zablocka, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1399-0004.2008.01047.x"}], "href": "https://doi.org/10.1111/j.1399-0004.2008.01047.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18565097"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18565097"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Hemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.366"}], "href": "https://doi.org/10.1038/ng.366"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19430481"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19430481"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "T Suzuki, N Miyake, Y Tsurusaki, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Association of fat mass and obesity-associated and retinitis pigmentosa guanosine triphosphatase (GTPase) regulator-interacting protein-1 like polymorphisms with body mass index in Chinese women."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Endocr J (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1507/endocrj.EJ17-0554"}], "href": "https://doi.org/10.1507/endocrj.EJ17-0554"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29657248"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29657248"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Niloufar Javanrouh, Ali R Soltanian, Leili Tapak, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "RPGRIP1L is required for stabilizing epidermal keratinocyte adhesion through regulating desmoglein endocytosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1007914"}], "href": "https://doi.org/10.1371/journal.pgen.1007914"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30689641"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30689641"}]}]}]}
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Synonyms | CORS3, JBTS7, NPHP8, PPP1R134, FTM, MKS5 |
Proteins | FTM_HUMAN |
NCBI Gene ID | 23322 |
API | |
Download Associations | |
Predicted Functions |
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Co-expressed Genes |
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Expression in Tissues and Cell Lines |
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RPGRIP1L has 6,351 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 112 datasets.
Click the + buttons to view associations for RPGRIP1L from the datasets below.
If available, associations are ranked by standardized value
Dataset | Summary | |
---|---|---|
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of RPGRIP1L gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of RPGRIP1L gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of RPGRIP1L gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of RPGRIP1L gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of RPGRIP1L gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of RPGRIP1L gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of RPGRIP1L gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of RPGRIP1L gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
CellMarker Gene-Cell Type Associations | cell types associated with RPGRIP1L gene from the CellMarker Gene-Cell Type Associations dataset. | |
ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of RPGRIP1L gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
ChEA Transcription Factor Targets | transcription factors binding the promoter of RPGRIP1L gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of RPGRIP1L gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
ClinVar Gene-Phenotype Associations | phenotypes associated with RPGRIP1L gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of RPGRIP1L gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing RPGRIP1L protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing RPGRIP1L protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing RPGRIP1L protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with RPGRIP1L protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with RPGRIP1L protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of RPGRIP1L gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
COSMIC Cell Line Gene Mutation Profiles | cell lines with RPGRIP1L gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
CTD Gene-Chemical Interactions | chemicals interacting with RPGRIP1L gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
CTD Gene-Disease Associations | diseases associated with RPGRIP1L gene/protein from the curated CTD Gene-Disease Associations dataset. | |
DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of RPGRIP1L protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
DepMap CRISPR Gene Dependency | cell lines with fitness changed by RPGRIP1L gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving RPGRIP1L gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with RPGRIP1L gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with RPGRIP1L gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with RPGRIP1L gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DisGeNET Gene-Disease Associations | diseases associated with RPGRIP1L gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
DisGeNET Gene-Phenotype Associations | phenotypes associated with RPGRIP1L gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at RPGRIP1L gene from the ENCODE Histone Modification Site Profiles dataset. | |
ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of RPGRIP1L gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
ENCODE Transcription Factor Targets | transcription factors binding the promoter of RPGRIP1L gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing RPGRIP1L from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
GAD Gene-Disease Associations | diseases associated with RPGRIP1L gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
GeneRIF Biological Term Annotations | biological terms co-occuring with RPGRIP1L gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing RPGRIP1L from the GeneSigDB Published Gene Signatures dataset. | |
GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of RPGRIP1L gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of RPGRIP1L gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of RPGRIP1L gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of RPGRIP1L gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of RPGRIP1L gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of RPGRIP1L gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
GO Biological Process Annotations 2015 | biological processes involving RPGRIP1L gene from the curated GO Biological Process Annotations 2015 dataset. | |
GO Biological Process Annotations 2023 | biological processes involving RPGRIP1L gene from the curated GO Biological Process Annotations 2023 dataset. | |
GO Biological Process Annotations 2025 | biological processes involving RPGRIP1L gene from the curated GO Biological Process Annotations2025 dataset. | |
GO Cellular Component Annotations 2015 | cellular components containing RPGRIP1L protein from the curated GO Cellular Component Annotations 2015 dataset. | |
GO Cellular Component Annotations 2023 | cellular components containing RPGRIP1L protein from the curated GO Cellular Component Annotations 2023 dataset. | |
GO Cellular Component Annotations 2025 | cellular components containing RPGRIP1L protein from the curated GO Cellular Component Annotations 2025 dataset. | |
GO Molecular Function Annotations 2015 | molecular functions performed by RPGRIP1L gene from the curated GO Molecular Function Annotations 2015 dataset. | |
GO Molecular Function Annotations 2023 | molecular functions performed by RPGRIP1L gene from the curated GO Molecular Function Annotations 2023 dataset. | |
GO Molecular Function Annotations 2025 | molecular functions performed by RPGRIP1L gene from the curated GO Molecular Function Annotations 2025 dataset. | |
GTEx Tissue Gene Expression Profiles | tissues with high or low expression of RPGRIP1L gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of RPGRIP1L gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of RPGRIP1L gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
GWAS Catalog SNP-Phenotype Associations | phenotypes associated with RPGRIP1L gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. | |
GWASdb SNP-Disease Associations | diseases associated with RPGRIP1L gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
GWASdb SNP-Phenotype Associations | phenotypes associated with RPGRIP1L gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of RPGRIP1L gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of RPGRIP1L gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
HPA Tissue Gene Expression Profiles | tissues with high or low expression of RPGRIP1L gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
HPA Tissue Protein Expression Profiles | tissues with high or low expression of RPGRIP1L protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of RPGRIP1L gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
HPO Gene-Disease Associations | phenotypes associated with RPGRIP1L gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
HuGE Navigator Gene-Phenotype Associations | phenotypes associated with RPGRIP1L gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by RPGRIP1L gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
InterPro Predicted Protein Domain Annotations | protein domains predicted for RPGRIP1L protein from the InterPro Predicted Protein Domain Annotations dataset. | |
JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of RPGRIP1L gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
Kinase Library Serine Threonine Kinome Atlas | kinases that phosphorylate RPGRIP1L protein from the Kinase Library Serine Threonine Atlas dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of RPGRIP1L gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of RPGRIP1L gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with RPGRIP1L gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of RPGRIP1L gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of RPGRIP1L gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of RPGRIP1L gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain RPGRIP1L protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by RPGRIP1L gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
MiRTarBase microRNA Targets | microRNAs targeting RPGRIP1L gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of RPGRIP1L gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
MPO Gene-Phenotype Associations | phenotypes of transgenic mice caused by RPGRIP1L gene mutations from the MPO Gene-Phenotype Associations dataset. | |
MSigDB Cancer Gene Co-expression Modules | co-expressed genes for RPGRIP1L from the MSigDB Cancer Gene Co-expression Modules dataset. | |
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of RPGRIP1L gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of RPGRIP1L gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
NURSA Protein Complexes | protein complexs containing RPGRIP1L protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
OMIM Gene-Disease Associations | phenotypes associated with RPGRIP1L gene from the curated OMIM Gene-Disease Associations dataset. | |
Pathway Commons Protein-Protein Interactions | interacting proteins for RPGRIP1L from the Pathway Commons Protein-Protein Interactions dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of RPGRIP1L gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of RPGRIP1L gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PFOCR Pathway Figure Associations 2023 | pathways involving RPGRIP1L protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
PFOCR Pathway Figure Associations 2024 | pathways involving RPGRIP1L protein from the Wikipathways PFOCR 2024 dataset. | |
Reactome Pathways 2014 | pathways involving RPGRIP1L protein from the Reactome Pathways dataset. | |
Reactome Pathways 2024 | pathways involving RPGRIP1L protein from the Reactome Pathways 2024 dataset. | |
Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of RPGRIP1L gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of RPGRIP1L gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset. | |
Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of RPGRIP1L gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of RPGRIP1L gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of RPGRIP1L gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at RPGRIP1L gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of RPGRIP1L gene from the RummaGEO Drug Perturbation Signatures dataset. | |
RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of RPGRIP1L gene from the RummaGEO Gene Perturbation Signatures dataset. | |
Sanger Dependency Map Cancer Cell Line Proteomics | cell lines associated with RPGRIP1L protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset. | |
TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of RPGRIP1L gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of RPGRIP1L gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of RPGRIP1L gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of RPGRIP1L protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of RPGRIP1L protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of RPGRIP1L protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of RPGRIP1L protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with RPGRIP1L protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with RPGRIP1L protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
WikiPathways Pathways 2024 | pathways involving RPGRIP1L protein from the WikiPathways Pathways 2024 dataset. | |