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RPGRIP1 (RPGR interacting protein 1)

Identity

Alias (NCBI)CORD13
LCA6
RGI1
RGRIP
RPGRIP
RPGRIP1d
HGNC (Hugo) RPGRIP1
HGNC Alias symbRGI1
LCA6
CORD13
HGNC Previous nameRPGRIP
HGNC Previous nameretinitis pigmentosa GTPase regulator interacting protein 1
LocusID (NCBI) 57096
Atlas_Id 56179
Location 14q11.2  [Link to chromosome band 14q11]
Location_base_pair Starts at 21287977 and ends at 21351301 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

Nomenclature
HGNC (Hugo)RPGRIP1   13436
Cards
Entrez_Gene (NCBI)RPGRIP1  57096  RPGR interacting protein 1
AliasesCORD13; LCA6; RGI1; RGRIP; 
RPGRIP; RPGRIP1d
GeneCards (Weizmann)RPGRIP1
Ensembl hg19 (Hinxton)ENSG00000092200 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000092200 [Gene_View]  ENSG00000092200 [Sequence]  chr14:21287977-21351301 [Contig_View]  RPGRIP1 [Vega]
ICGC DataPortalENSG00000092200
TCGA cBioPortalRPGRIP1
AceView (NCBI)RPGRIP1
Genatlas (Paris)RPGRIP1
WikiGenes57096
SOURCE (Princeton)RPGRIP1
Genetics Home Reference (NIH)RPGRIP1
Genomic and cartography
GoldenPath hg38 (UCSC)RPGRIP1  -     chr14:21287977-21351301 +  14q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RPGRIP1  -     14q11.2   [Description]    (hg19-Feb_2009)
GoldenPathRPGRIP1 - 14q11.2 [CytoView hg19]  RPGRIP1 - 14q11.2 [CytoView hg38]
ImmunoBaseENSG00000092200
genome Data Viewer NCBIRPGRIP1 [Mapview hg19]  
OMIM605446   608194   613826   
Gene and transcription
Genbank (Entrez)AF227257 AF260257 AF265666 AF265667 AJ417067
RefSeq transcript (Entrez)NM_001377523 NM_001377948 NM_001377949 NM_001377950 NM_001377951 NM_020366
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RPGRIP1
Alternative Splicing GalleryENSG00000092200
Gene ExpressionRPGRIP1 [ NCBI-GEO ]   RPGRIP1 [ EBI - ARRAY_EXPRESS ]   RPGRIP1 [ SEEK ]   RPGRIP1 [ MEM ]
Gene Expression Viewer (FireBrowse)RPGRIP1 [ Firebrowse - Broad ]
GenevisibleExpression of RPGRIP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57096
GTEX Portal (Tissue expression)RPGRIP1
Human Protein AtlasENSG00000092200-RPGRIP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96KN7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96KN7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96KN7
Splice isoforms : SwissVarQ96KN7
PhosPhoSitePlusQ96KN7
Domaine pattern : Prosite (Expaxy)C2 (PS50004)   
Domains : Interpro (EBI)C2-C2_1    C2_dom    C2_domain_sf    RPGRIP1    RPGRIP1_C    RPGRIP1_fam   
Domain families : Pfam (Sanger)C2 (PF00168)    C2-C2_1 (PF11618)    RPGR1_C (PF18111)   
Domain families : Pfam (NCBI)pfam00168    pfam11618    pfam18111   
Conserved Domain (NCBI)RPGRIP1
DMDM Disease mutations57096
Blocks (Seattle)RPGRIP1
PDB (RSDB)4QAM   
PDB Europe4QAM   
PDB (PDBSum)4QAM   
PDB (IMB)4QAM   
Structural Biology KnowledgeBase4QAM   
SCOP (Structural Classification of Proteins)4QAM   
CATH (Classification of proteins structures)4QAM   
SuperfamilyQ96KN7
Human Protein Atlas [tissue]ENSG00000092200-RPGRIP1 [tissue]
Peptide AtlasQ96KN7
HPRD05673
IPIIPI00179169   IPI00401006   IPI00333327   IPI01017877   IPI00401008   IPI01026219   IPI01026326   IPI01026449   IPI01026579   IPI01026584   IPI00401005   IPI01024840   IPI01024962   IPI00401007   
Protein Interaction databases
DIP (DOE-UCLA)Q96KN7
IntAct (EBI)Q96KN7
FunCoupENSG00000092200
BioGRIDRPGRIP1
STRING (EMBL)RPGRIP1
ZODIACRPGRIP1
Ontologies - Pathways
QuickGOQ96KN7
Ontology : AmiGOprotein binding  axoneme  visual perception  photoreceptor connecting cilium  eye photoreceptor cell development  response to stimulus  retina development in camera-type eye  neural precursor cell proliferation  
Ontology : EGO-EBIprotein binding  axoneme  visual perception  photoreceptor connecting cilium  eye photoreceptor cell development  response to stimulus  retina development in camera-type eye  neural precursor cell proliferation  
NDEx NetworkRPGRIP1
Atlas of Cancer Signalling NetworkRPGRIP1
Wikipedia pathwaysRPGRIP1
Orthology - Evolution
OrthoDB57096
GeneTree (enSembl)ENSG00000092200
Phylogenetic Trees/Animal Genes : TreeFamRPGRIP1
HOGENOMQ96KN7
Homologs : HomoloGeneRPGRIP1
Homology/Alignments : Family Browser (UCSC)RPGRIP1
Gene fusions - Rearrangements
Fusion : QuiverRPGRIP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRPGRIP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPGRIP1
dbVarRPGRIP1
ClinVarRPGRIP1
MonarchRPGRIP1
1000_GenomesRPGRIP1 
Exome Variant ServerRPGRIP1
GNOMAD BrowserENSG00000092200
Varsome BrowserRPGRIP1
Genetic variants : HAPMAP57096
Genomic Variants (DGV)RPGRIP1 [DGVbeta]
DECIPHERRPGRIP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRPGRIP1 
Mutations
ICGC Data PortalRPGRIP1 
TCGA Data PortalRPGRIP1 
Broad Tumor PortalRPGRIP1
OASIS PortalRPGRIP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRPGRIP1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRPGRIP1
Mutations and Diseases : HGMDRPGRIP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch RPGRIP1
DgiDB (Drug Gene Interaction Database)RPGRIP1
DoCM (Curated mutations)RPGRIP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RPGRIP1 (select a term)
intoGenRPGRIP1
Cancer3DRPGRIP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605446    608194    613826   
Orphanet280    1843    3243   
DisGeNETRPGRIP1
MedgenRPGRIP1
Genetic Testing Registry RPGRIP1
NextProtQ96KN7 [Medical]
TSGene57096
GENETestsRPGRIP1
Target ValidationRPGRIP1
Huge Navigator RPGRIP1 [HugePedia]
snp3D : Map Gene to Disease57096
BioCentury BCIQRPGRIP1
ClinGenRPGRIP1
Clinical trials, drugs, therapy
Protein Interactions : CTD57096
Pharm GKB GenePA34657
Clinical trialRPGRIP1
Miscellaneous
canSAR (ICR)RPGRIP1 (select the gene name)
HarmonizomeRPGRIP1
DataMed IndexRPGRIP1
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRPGRIP1
EVEXRPGRIP1
GoPubMedRPGRIP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Sep 14 14:30:45 CEST 2020

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