Atlas of Genetics and Cytogenetics in Oncology and Haematology


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RPGR (retinitis pigmentosa GTPase regulator)

Identity

Alias_namesCRD
RP3
RP15
COD1
retinitis pigmentosa 15
cone dystrophy 1 (X-linked)
Alias_symbol (synonym)CORDX1
Other aliasPCDX
XLRP3
orf15
HGNC (Hugo) RPGR
LocusID (NCBI) 6103
Atlas_Id 72782
Location Xp11.4  [Link to chromosome band Xp11]
Location_base_pair Starts at 38269170 and ends at 38327535 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PAPPA (9q33.1) / RPGR (Xp11.4)

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)RPGR   10295
Cards
Entrez_Gene (NCBI)RPGR  6103  retinitis pigmentosa GTPase regulator
AliasesCOD1; CORDX1; CRD; PCDX; 
RP15; RP3; XLRP3; orf15
GeneCards (Weizmann)RPGR
Ensembl hg19 (Hinxton)ENSG00000156313 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000156313 [Gene_View]  chrX:38269170-38327535 [Contig_View]  RPGR [Vega]
ICGC DataPortalENSG00000156313
TCGA cBioPortalRPGR
AceView (NCBI)RPGR
Genatlas (Paris)RPGR
WikiGenes6103
SOURCE (Princeton)RPGR
Genetics Home Reference (NIH)RPGR
Genomic and cartography
GoldenPath hg38 (UCSC)RPGR  -     chrX:38269170-38327535 -  Xp11.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RPGR  -     Xp11.4   [Description]    (hg19-Feb_2009)
EnsemblRPGR - Xp11.4 [CytoView hg19]  RPGR - Xp11.4 [CytoView hg38]
Mapping of homologs : NCBIRPGR [Mapview hg19]  RPGR [Mapview hg38]
OMIM300029   300455   300834   304020   312610   
Gene and transcription
Genbank (Entrez)AJ238395 AK223491 AK291832 AY927527 BC031624
RefSeq transcript (Entrez)NM_000328 NM_001023582 NM_001034853
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RPGR
Cluster EST : UnigeneHs.61438 [ NCBI ]
CGAP (NCI)Hs.61438
Alternative Splicing GalleryENSG00000156313
Gene ExpressionRPGR [ NCBI-GEO ]   RPGR [ EBI - ARRAY_EXPRESS ]   RPGR [ SEEK ]   RPGR [ MEM ]
Gene Expression Viewer (FireBrowse)RPGR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6103
GTEX Portal (Tissue expression)RPGR
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92834   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92834  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92834
Splice isoforms : SwissVarQ92834
PhosPhoSitePlusQ92834
Domaine pattern : Prosite (Expaxy)RCC1_2 (PS00626)    RCC1_3 (PS50012)   
Domains : Interpro (EBI)RCC1/BLIP-II    Reg_chr_condens    RPGR   
Domain families : Pfam (Sanger)RCC1 (PF00415)   
Domain families : Pfam (NCBI)pfam00415   
Conserved Domain (NCBI)RPGR
DMDM Disease mutations6103
Blocks (Seattle)RPGR
PDB (SRS)4JHN    4JHP    4QAM   
PDB (PDBSum)4JHN    4JHP    4QAM   
PDB (IMB)4JHN    4JHP    4QAM   
PDB (RSDB)4JHN    4JHP    4QAM   
Structural Biology KnowledgeBase4JHN    4JHP    4QAM   
SCOP (Structural Classification of Proteins)4JHN    4JHP    4QAM   
CATH (Classification of proteins structures)4JHN    4JHP    4QAM   
SuperfamilyQ92834
Human Protein AtlasENSG00000156313
Peptide AtlasQ92834
HPRD02425
IPIIPI00023757   IPI00215806   IPI00215807   IPI00215808   IPI00397031   IPI00382445   IPI00945003   IPI00947383   
Protein Interaction databases
DIP (DOE-UCLA)Q92834
IntAct (EBI)Q92834
FunCoupENSG00000156313
BioGRIDRPGR
STRING (EMBL)RPGR
ZODIACRPGR
Ontologies - Pathways
QuickGOQ92834
Ontology : AmiGOphotoreceptor outer segment  RNA binding  guanyl-nucleotide exchange factor activity  protein binding  Golgi apparatus  Golgi apparatus  centrosome  intracellular protein transport  visual perception  ciliary basal body  sperm flagellum  intraciliary transport  positive regulation of GTPase activity  response to stimulus  cilium assembly  
Ontology : EGO-EBIphotoreceptor outer segment  RNA binding  guanyl-nucleotide exchange factor activity  protein binding  Golgi apparatus  Golgi apparatus  centrosome  intracellular protein transport  visual perception  ciliary basal body  sperm flagellum  intraciliary transport  positive regulation of GTPase activity  response to stimulus  cilium assembly  
NDEx NetworkRPGR
Atlas of Cancer Signalling NetworkRPGR
Wikipedia pathwaysRPGR
Orthology - Evolution
OrthoDB6103
GeneTree (enSembl)ENSG00000156313
Phylogenetic Trees/Animal Genes : TreeFamRPGR
HOVERGENQ92834
HOGENOMQ92834
Homologs : HomoloGeneRPGR
Homology/Alignments : Family Browser (UCSC)RPGR
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRPGR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPGR
dbVarRPGR
ClinVarRPGR
1000_GenomesRPGR 
Exome Variant ServerRPGR
ExAC (Exome Aggregation Consortium)RPGR (select the gene name)
Genetic variants : HAPMAP6103
Genomic Variants (DGV)RPGR [DGVbeta]
DECIPHERRPGR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRPGR 
Mutations
ICGC Data PortalRPGR 
TCGA Data PortalRPGR 
Broad Tumor PortalRPGR
OASIS PortalRPGR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRPGR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRPGR
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
LOVD (Leiden Open Variation Database)MRC Human Genetics Unit LOVD at MRC IGMM
LOVD (Leiden Open Variation Database)SpainMDB
BioMutasearch RPGR
DgiDB (Drug Gene Interaction Database)RPGR
DoCM (Curated mutations)RPGR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RPGR (select a term)
intoGenRPGR
Cancer3DRPGR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300029    300455    300834    304020    312610   
Orphanet665    659    1843    19523    10639   
MedgenRPGR
Genetic Testing Registry RPGR
NextProtQ92834 [Medical]
TSGene6103
GENETestsRPGR
Target ValidationRPGR
Huge Navigator RPGR [HugePedia]
snp3D : Map Gene to Disease6103
BioCentury BCIQRPGR
ClinGenRPGR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6103
Chemical/Pharm GKB GenePA34656
Clinical trialRPGR
Miscellaneous
canSAR (ICR)RPGR (select the gene name)
Probes
Litterature
PubMed120 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRPGR
EVEXRPGR
GoPubMedRPGR
iHOPRPGR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 31 15:39:11 CEST 2017

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