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RAPGEF5 (Rap guanine nucleotide exchange factor 5)

Identity

Alias_namesRap guanine nucleotide exchange factor (GEF) 5
Alias_symbol (synonym)KIAA0277
GFR
MR-GEF
Other aliasREPAC
HGNC (Hugo) RAPGEF5
LocusID (NCBI) 9771
Atlas_Id 43446
Location 7p15.3  [Link to chromosome band 7p15]
Location_base_pair Starts at 22118290 and ends at 22356914 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)
CRIM1 (2p22.3) / RAPGEF5 (7p15.3)HSPB1 (7q11.23) / RAPGEF5 (7p15.3)PAN3 (13q12.2) / RAPGEF5 (7p15.3)
PCDH7 (4p15.1) / RAPGEF5 (7p15.3)RAPGEF5 (7p15.3) / EDEM1 (3p26.1)RAPGEF5 (7p15.3) / LUC7L2 (7q34)
RAPGEF5 (7p15.3) / PLPP4 (10q26.12)RAPGEF5 (7p15.3) / SDK2 (17q25.1)RAPGEF5 (7p15.3) / STEAP1B (7p15.3)
RAPGEF5 (7p15.3) / TMEM14B (6p24.2)RAPGEF5 (7p15.3) / UBA52 (19p13.11)RAPGEF5 7p15.3 / PPAPDC1A 10q26.12
RAPGEF5 7p15.3 / STEAP1B 7p15.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  RAPGEF5/STEAP1B (7p15)


External links

Nomenclature
HGNC (Hugo)RAPGEF5   16862
Cards
Entrez_Gene (NCBI)RAPGEF5  9771  Rap guanine nucleotide exchange factor 5
AliasesGFR; MR-GEF; REPAC
GeneCards (Weizmann)RAPGEF5
Ensembl hg19 (Hinxton)ENSG00000136237 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136237 [Gene_View]  ENSG00000136237 [Sequence]  chr7:22118290-22356914 [Contig_View]  RAPGEF5 [Vega]
ICGC DataPortalENSG00000136237
TCGA cBioPortalRAPGEF5
AceView (NCBI)RAPGEF5
Genatlas (Paris)RAPGEF5
WikiGenes9771
SOURCE (Princeton)RAPGEF5
Genetics Home Reference (NIH)RAPGEF5
Genomic and cartography
GoldenPath hg38 (UCSC)RAPGEF5  -     chr7:22118290-22356914 -  7p15.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RAPGEF5  -     7p15.3   [Description]    (hg19-Feb_2009)
EnsemblRAPGEF5 - 7p15.3 [CytoView hg19]  RAPGEF5 - 7p15.3 [CytoView hg38]
Mapping of homologs : NCBIRAPGEF5 [Mapview hg19]  RAPGEF5 [Mapview hg38]
OMIM609527   
Gene and transcription
Genbank (Entrez)AA732485 AA815190 AA890636 AK295859 AL833195
RefSeq transcript (Entrez)NM_012294
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RAPGEF5
Cluster EST : UnigeneHs.713217 [ NCBI ]
CGAP (NCI)Hs.713217
Alternative Splicing GalleryENSG00000136237
Gene ExpressionRAPGEF5 [ NCBI-GEO ]   RAPGEF5 [ EBI - ARRAY_EXPRESS ]   RAPGEF5 [ SEEK ]   RAPGEF5 [ MEM ]
Gene Expression Viewer (FireBrowse)RAPGEF5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9771
GTEX Portal (Tissue expression)RAPGEF5
Human Protein AtlasENSG00000136237-RAPGEF5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92565   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92565  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92565
Splice isoforms : SwissVarQ92565
PhosPhoSitePlusQ92565
Domaine pattern : Prosite (Expaxy)RASGEF (PS00720)    RASGEF_CAT (PS50009)    RASGEF_NTER (PS50212)   
Domains : Interpro (EBI)Ras-like_Gua-exchang_fac_N    Ras_G-nucl-exch_fac_CS    Ras_GEF_dom_sf    RASGEF_cat_dom    RASGEF_cat_dom_sf    Ubiquitin-like_domsf   
Domain families : Pfam (Sanger)RasGEF (PF00617)    RasGEF_N (PF00618)   
Domain families : Pfam (NCBI)pfam00617    pfam00618   
Domain families : Smart (EMBL)RasGEF (SM00147)  RasGEFN (SM00229)  
Conserved Domain (NCBI)RAPGEF5
DMDM Disease mutations9771
Blocks (Seattle)RAPGEF5
PDB (SRS)1WGY   
PDB (PDBSum)1WGY   
PDB (IMB)1WGY   
PDB (RSDB)1WGY   
Structural Biology KnowledgeBase1WGY   
SCOP (Structural Classification of Proteins)1WGY   
CATH (Classification of proteins structures)1WGY   
SuperfamilyQ92565
Human Protein Atlas [tissue]ENSG00000136237-RAPGEF5 [tissue]
Peptide AtlasQ92565
HPRD15208
IPIIPI00293938   IPI00953586   IPI00939482   IPI00412252   IPI00893458   IPI00893314   IPI00893036   
Protein Interaction databases
DIP (DOE-UCLA)Q92565
IntAct (EBI)Q92565
FunCoupENSG00000136237
BioGRIDRAPGEF5
STRING (EMBL)RAPGEF5
ZODIACRAPGEF5
Ontologies - Pathways
QuickGOQ92565
Ontology : AmiGORas guanyl-nucleotide exchange factor activity  nucleus  nucleoplasm  small GTPase mediated signal transduction  nervous system development  nuclear body  Rap guanyl-nucleotide exchange factor activity  GTP-dependent protein binding  
Ontology : EGO-EBIRas guanyl-nucleotide exchange factor activity  nucleus  nucleoplasm  small GTPase mediated signal transduction  nervous system development  nuclear body  Rap guanyl-nucleotide exchange factor activity  GTP-dependent protein binding  
Pathways : KEGGRas signaling pathway    Rap1 signaling pathway   
NDEx NetworkRAPGEF5
Atlas of Cancer Signalling NetworkRAPGEF5
Wikipedia pathwaysRAPGEF5
Orthology - Evolution
OrthoDB9771
GeneTree (enSembl)ENSG00000136237
Phylogenetic Trees/Animal Genes : TreeFamRAPGEF5
HOVERGENQ92565
HOGENOMQ92565
Homologs : HomoloGeneRAPGEF5
Homology/Alignments : Family Browser (UCSC)RAPGEF5
Gene fusions - Rearrangements
Fusion : MitelmanRAPGEF5/PPAPDC1A [7p15.3/10q26.12]  
Fusion : MitelmanRAPGEF5/STEAP1B [7p15.3/7p15.3]  [t(7;7)(p15;p15)]  
Fusion PortalRAPGEF5 7p15.3 PPAPDC1A 10q26.12 BRCA
Fusion PortalRAPGEF5 7p15.3 STEAP1B 7p15.3 BRCA
Fusion Cancer (Beijing)RAPGEF5 [7p15.3]  -  STEAP1B [7p15.3]  [FUSC000217]
Fusion : QuiverRAPGEF5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRAPGEF5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAPGEF5
dbVarRAPGEF5
ClinVarRAPGEF5
1000_GenomesRAPGEF5 
Exome Variant ServerRAPGEF5
ExAC (Exome Aggregation Consortium)ENSG00000136237
GNOMAD BrowserENSG00000136237
Varsome BrowserRAPGEF5
Genetic variants : HAPMAP9771
Genomic Variants (DGV)RAPGEF5 [DGVbeta]
DECIPHERRAPGEF5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRAPGEF5 
Mutations
ICGC Data PortalRAPGEF5 
TCGA Data PortalRAPGEF5 
Broad Tumor PortalRAPGEF5
OASIS PortalRAPGEF5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRAPGEF5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRAPGEF5
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
BioMutasearch RAPGEF5
DgiDB (Drug Gene Interaction Database)RAPGEF5
DoCM (Curated mutations)RAPGEF5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RAPGEF5 (select a term)
intoGenRAPGEF5
Cancer3DRAPGEF5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609527   
Orphanet
DisGeNETRAPGEF5
MedgenRAPGEF5
Genetic Testing Registry RAPGEF5
NextProtQ92565 [Medical]
TSGene9771
GENETestsRAPGEF5
Target ValidationRAPGEF5
Huge Navigator RAPGEF5 [HugePedia]
snp3D : Map Gene to Disease9771
BioCentury BCIQRAPGEF5
ClinGenRAPGEF5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9771
Chemical/Pharm GKB GenePA134902361
Clinical trialRAPGEF5
Miscellaneous
canSAR (ICR)RAPGEF5 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRAPGEF5
EVEXRAPGEF5
GoPubMedRAPGEF5
iHOPRAPGEF5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:34:33 CET 2018

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