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RPGRIP1L (RPGRIP1 like)

Identity

Alias_namesRPGRIP1-like
Alias_symbol (synonym)KIAA1005
CORS3
JBTS7
MKS5
NPHP8
FTM
PPP1R134
Other alias
HGNC (Hugo) RPGRIP1L
LocusID (NCBI) 23322
Atlas_Id 72784
Location 16q12.2  [Link to chromosome band 16q12]
Location_base_pair Starts at 53599239 and ends at 53703938 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RPGRIP1L (16q12.2) / KLHL22 (22q11.21)ZNF784 (19q13.42) / RPGRIP1L (16q12.2)

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)RPGRIP1L   29168
LRG (Locus Reference Genomic)LRG_696
Cards
Entrez_Gene (NCBI)RPGRIP1L  23322  RPGRIP1 like
AliasesCORS3; FTM; JBTS7; MKS5; 
NPHP8; PPP1R134
GeneCards (Weizmann)RPGRIP1L
Ensembl hg19 (Hinxton)ENSG00000103494 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000103494 [Gene_View]  chr16:53599239-53703938 [Contig_View]  RPGRIP1L [Vega]
ICGC DataPortalENSG00000103494
TCGA cBioPortalRPGRIP1L
AceView (NCBI)RPGRIP1L
Genatlas (Paris)RPGRIP1L
WikiGenes23322
SOURCE (Princeton)RPGRIP1L
Genetics Home Reference (NIH)RPGRIP1L
Genomic and cartography
GoldenPath hg38 (UCSC)RPGRIP1L  -     chr16:53599239-53703938 -  16q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RPGRIP1L  -     16q12.2   [Description]    (hg19-Feb_2009)
EnsemblRPGRIP1L - 16q12.2 [CytoView hg19]  RPGRIP1L - 16q12.2 [CytoView hg38]
Mapping of homologs : NCBIRPGRIP1L [Mapview hg19]  RPGRIP1L [Mapview hg38]
OMIM216360   610937   611560   611561   
Gene and transcription
Genbank (Entrez)AB023222 AK026552 AK093307 AK096333 AK304790
RefSeq transcript (Entrez)NM_001127897 NM_001308334 NM_001328422 NM_001328423 NM_001330538 NM_015272
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RPGRIP1L
Cluster EST : UnigeneHs.710269 [ NCBI ]
CGAP (NCI)Hs.710269
Alternative Splicing GalleryENSG00000103494
Gene ExpressionRPGRIP1L [ NCBI-GEO ]   RPGRIP1L [ EBI - ARRAY_EXPRESS ]   RPGRIP1L [ SEEK ]   RPGRIP1L [ MEM ]
Gene Expression Viewer (FireBrowse)RPGRIP1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23322
GTEX Portal (Tissue expression)RPGRIP1L
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ68CZ1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ68CZ1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ68CZ1
Splice isoforms : SwissVarQ68CZ1
PhosPhoSitePlusQ68CZ1
Domaine pattern : Prosite (Expaxy)C2 (PS50004)   
Domains : Interpro (EBI)C2-C2_1    C2_dom    RPGRIP1_fam    RPGRIP1L   
Domain families : Pfam (Sanger)C2 (PF00168)    C2-C2_1 (PF11618)   
Domain families : Pfam (NCBI)pfam00168    pfam11618   
Domain families : Smart (EMBL)C2 (SM00239)  
Conserved Domain (NCBI)RPGRIP1L
DMDM Disease mutations23322
Blocks (Seattle)RPGRIP1L
PDB (SRS)2YRB   
PDB (PDBSum)2YRB   
PDB (IMB)2YRB   
PDB (RSDB)2YRB   
Structural Biology KnowledgeBase2YRB   
SCOP (Structural Classification of Proteins)2YRB   
CATH (Classification of proteins structures)2YRB   
SuperfamilyQ68CZ1
Human Protein AtlasENSG00000103494
Peptide AtlasQ68CZ1
HPRD17204
IPIIPI00470867   IPI00640671   
Protein Interaction databases
DIP (DOE-UCLA)Q68CZ1
IntAct (EBI)Q68CZ1
FunCoupENSG00000103494
BioGRIDRPGRIP1L
STRING (EMBL)RPGRIP1L
ZODIACRPGRIP1L
Ontologies - Pathways
QuickGOQ68CZ1
Ontology : AmiGOin utero embryonic development  establishment of planar polarity  kidney development  liver development  protein binding  nucleoplasm  cytoplasm  centrosome  cytosol  cytosol  axonemal microtubule  plasma membrane  cell-cell junction  bicellular tight junction  cilium  axoneme  establishment or maintenance of cell polarity  determination of left/right symmetry  regulation of smoothened signaling pathway  neural tube patterning  cerebellum development  lateral ventricle development  olfactory bulb development  corpus callosum development  thromboxane A2 receptor binding  photoreceptor connecting cilium  embryonic forelimb morphogenesis  embryonic hindlimb morphogenesis  ciliary transition zone  ciliary basal body  camera-type eye development  nose development  negative regulation of G-protein coupled receptor protein signaling pathway  pericardium development  cochlea development  ciliary basal body docking  non-motile cilium assembly  
Ontology : EGO-EBIin utero embryonic development  establishment of planar polarity  kidney development  liver development  protein binding  nucleoplasm  cytoplasm  centrosome  cytosol  cytosol  axonemal microtubule  plasma membrane  cell-cell junction  bicellular tight junction  cilium  axoneme  establishment or maintenance of cell polarity  determination of left/right symmetry  regulation of smoothened signaling pathway  neural tube patterning  cerebellum development  lateral ventricle development  olfactory bulb development  corpus callosum development  thromboxane A2 receptor binding  photoreceptor connecting cilium  embryonic forelimb morphogenesis  embryonic hindlimb morphogenesis  ciliary transition zone  ciliary basal body  camera-type eye development  nose development  negative regulation of G-protein coupled receptor protein signaling pathway  pericardium development  cochlea development  ciliary basal body docking  non-motile cilium assembly  
NDEx NetworkRPGRIP1L
Atlas of Cancer Signalling NetworkRPGRIP1L
Wikipedia pathwaysRPGRIP1L
Orthology - Evolution
OrthoDB23322
GeneTree (enSembl)ENSG00000103494
Phylogenetic Trees/Animal Genes : TreeFamRPGRIP1L
HOVERGENQ68CZ1
HOGENOMQ68CZ1
Homologs : HomoloGeneRPGRIP1L
Homology/Alignments : Family Browser (UCSC)RPGRIP1L
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRPGRIP1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPGRIP1L
dbVarRPGRIP1L
ClinVarRPGRIP1L
1000_GenomesRPGRIP1L 
Exome Variant ServerRPGRIP1L
ExAC (Exome Aggregation Consortium)RPGRIP1L (select the gene name)
Genetic variants : HAPMAP23322
Genomic Variants (DGV)RPGRIP1L [DGVbeta]
DECIPHERRPGRIP1L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRPGRIP1L 
Mutations
ICGC Data PortalRPGRIP1L 
TCGA Data PortalRPGRIP1L 
Broad Tumor PortalRPGRIP1L
OASIS PortalRPGRIP1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRPGRIP1L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRPGRIP1L
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
BioMutasearch RPGRIP1L
DgiDB (Drug Gene Interaction Database)RPGRIP1L
DoCM (Curated mutations)RPGRIP1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RPGRIP1L (select a term)
intoGenRPGRIP1L
Cancer3DRPGRIP1L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM216360    610937    611560    611561   
Orphanet280    1644    18917   
MedgenRPGRIP1L
Genetic Testing Registry RPGRIP1L
NextProtQ68CZ1 [Medical]
TSGene23322
GENETestsRPGRIP1L
Target ValidationRPGRIP1L
Huge Navigator RPGRIP1L [HugePedia]
snp3D : Map Gene to Disease23322
BioCentury BCIQRPGRIP1L
ClinGenRPGRIP1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23322
Chemical/Pharm GKB GenePA162401983
Clinical trialRPGRIP1L
Miscellaneous
canSAR (ICR)RPGRIP1L (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRPGRIP1L
EVEXRPGRIP1L
GoPubMedRPGRIP1L
iHOPRPGRIP1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 18 13:36:41 CEST 2017

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