Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ARHGEF1 (Rho guanine nucleotide exchange factor 1)

Identity

Alias_namesRho guanine nucleotide exchange factor (GEF) 1
Alias_symbol (synonym)P115-RHOGEF
SUB1.5
LBCL2
Other aliasGEF1
IMD62
LSC
HGNC (Hugo) ARHGEF1
LocusID (NCBI) 9138
Atlas_Id 698
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 41884379 and ends at 41907452 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)
ARHGEF1 (19q13.2) / CELF2 (10p14)ARHGEF1 (19q13.2) / ITIH4 (3p21.1)ARHGEF1 (19q13.2) / KLHL24 (3q27.1)
ARHGEF1 (19q13.2) / R3HDM4 (19p13.3)ARHGEF1 (19q13.2) / TMC8 (17q25.3)CHST11 (12q23.3) / ARHGEF1 (19q13.2)
GAK (4p16.3) / ARHGEF1 (19q13.2)OAF (11q23.3) / ARHGEF1 (19q13.2)PPARD (6p21.31) / ARHGEF1 (19q13.2)
SERINC2 (1p35.2) / ARHGEF1 (19q13.2)STXBP2 (19p13.2) / ARHGEF1 (19q13.2)SERINC2 1p35.2 / ARHGEF1 19q13.2
STXBP2 19p13.2 / ARHGEF1 19q13.2

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(1;19)(p35;q13) SERINC2/ARHGEF1
t(19;19)(p13;q13) STXBP2/ARHGEF1

External links

Nomenclature
HGNC (Hugo)ARHGEF1   681
Cards
Entrez_Gene (NCBI)ARHGEF1  9138  Rho guanine nucleotide exchange factor 1
AliasesGEF1; IMD62; LBCL2; LSC; 
P115-RHOGEF; SUB1.5
GeneCards (Weizmann)ARHGEF1
Ensembl hg19 (Hinxton)ENSG00000076928 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000076928 [Gene_View]  ENSG00000076928 [Sequence]  chr19:41884379-41907452 [Contig_View]  ARHGEF1 [Vega]
ICGC DataPortalENSG00000076928
TCGA cBioPortalARHGEF1
AceView (NCBI)ARHGEF1
Genatlas (Paris)ARHGEF1
WikiGenes9138
SOURCE (Princeton)ARHGEF1
Genetics Home Reference (NIH)ARHGEF1
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGEF1  -     chr19:41884379-41907452 +  19q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGEF1  -     19q13.2   [Description]    (hg19-Feb_2009)
GoldenPathARHGEF1 - 19q13.2 [CytoView hg19]  ARHGEF1 - 19q13.2 [CytoView hg38]
ImmunoBaseENSG00000076928
Mapping of homologs : NCBIARHGEF1 [Mapview hg19]  ARHGEF1 [Mapview hg38]
OMIM601855   618459   
Gene and transcription
Genbank (Entrez)AK026781 AL832294 BC005155 BC011726 BC015652
RefSeq transcript (Entrez)NM_004706 NM_198977 NM_199002
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARHGEF1
Cluster EST : UnigeneHs.631550 [ NCBI ]
CGAP (NCI)Hs.631550
Alternative Splicing GalleryENSG00000076928
Gene ExpressionARHGEF1 [ NCBI-GEO ]   ARHGEF1 [ EBI - ARRAY_EXPRESS ]   ARHGEF1 [ SEEK ]   ARHGEF1 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGEF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9138
GTEX Portal (Tissue expression)ARHGEF1
Human Protein AtlasENSG00000076928-ARHGEF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92888   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92888  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92888
Splice isoforms : SwissVarQ92888
PhosPhoSitePlusQ92888
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)DBL_dom_sf    DH-domain    p115RhoGEF_RGS    PH-like_dom_sf    PH_domain    RGS-like_dom    RGS_sf   
Domain families : Pfam (Sanger)RGS-like (PF09128)    RhoGEF (PF00621)   
Domain families : Pfam (NCBI)pfam09128    pfam00621   
Domain families : Smart (EMBL)PH (SM00233)  RhoGEF (SM00325)  
Conserved Domain (NCBI)ARHGEF1
DMDM Disease mutations9138
Blocks (Seattle)ARHGEF1
PDB (RSDB)1IAP    1SHZ    3AB3    3ODO    3ODW    3ODX    3P6A   
PDB Europe1IAP    1SHZ    3AB3    3ODO    3ODW    3ODX    3P6A   
PDB (PDBSum)1IAP    1SHZ    3AB3    3ODO    3ODW    3ODX    3P6A   
PDB (IMB)1IAP    1SHZ    3AB3    3ODO    3ODW    3ODX    3P6A   
Structural Biology KnowledgeBase1IAP    1SHZ    3AB3    3ODO    3ODW    3ODX    3P6A   
SCOP (Structural Classification of Proteins)1IAP    1SHZ    3AB3    3ODO    3ODW    3ODX    3P6A   
CATH (Classification of proteins structures)1IAP    1SHZ    3AB3    3ODO    3ODW    3ODX    3P6A   
SuperfamilyQ92888
Human Protein Atlas [tissue]ENSG00000076928-ARHGEF1 [tissue]
Peptide AtlasQ92888
HPRD03511
IPIIPI00647786   IPI00339379   IPI00395605   IPI00643028   IPI00433169   IPI00166711   
Protein Interaction databases
DIP (DOE-UCLA)Q92888
IntAct (EBI)Q92888
FunCoupENSG00000076928
BioGRIDARHGEF1
STRING (EMBL)ARHGEF1
ZODIACARHGEF1
Ontologies - Pathways
QuickGOQ92888
Ontology : AmiGOG protein-coupled receptor binding  RNA binding  Rho guanyl-nucleotide exchange factor activity  GTPase activator activity  protein binding  cytoplasm  cytosol  cytosol  plasma membrane  G protein-coupled receptor signaling pathway  Rho protein signal transduction  regulation of Rho protein signal transduction  positive regulation of apoptotic process  positive regulation of GTPase activity  regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBIG protein-coupled receptor binding  RNA binding  Rho guanyl-nucleotide exchange factor activity  GTPase activator activity  protein binding  cytoplasm  cytosol  cytosol  plasma membrane  G protein-coupled receptor signaling pathway  Rho protein signal transduction  regulation of Rho protein signal transduction  positive regulation of apoptotic process  positive regulation of GTPase activity  regulation of small GTPase mediated signal transduction  
Pathways : KEGGVascular smooth muscle contraction    Regulation of actin cytoskeleton    Proteoglycans in cancer   
NDEx NetworkARHGEF1
Atlas of Cancer Signalling NetworkARHGEF1
Wikipedia pathwaysARHGEF1
Orthology - Evolution
OrthoDB9138
GeneTree (enSembl)ENSG00000076928
Phylogenetic Trees/Animal Genes : TreeFamARHGEF1
HOGENOMQ92888
Homologs : HomoloGeneARHGEF1
Homology/Alignments : Family Browser (UCSC)ARHGEF1
Gene fusions - Rearrangements
Fusion : MitelmanSERINC2/ARHGEF1 [1p35.2/19q13.2]  [t(1;19)(p35;q13)]  
Fusion : MitelmanSTXBP2/ARHGEF1 [19p13.2/19q13.2]  [t(19;19)(p13;q13)]  
Fusion PortalSERINC2 1p35.2 ARHGEF1 19q13.2 BRCA
Fusion PortalSTXBP2 19p13.2 ARHGEF1 19q13.2 BRCA
Fusion : QuiverARHGEF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGEF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGEF1
dbVarARHGEF1
ClinVarARHGEF1
1000_GenomesARHGEF1 
Exome Variant ServerARHGEF1
ExAC (Exome Aggregation Consortium)ENSG00000076928
GNOMAD BrowserENSG00000076928
Varsome BrowserARHGEF1
Genetic variants : HAPMAP9138
Genomic Variants (DGV)ARHGEF1 [DGVbeta]
DECIPHERARHGEF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARHGEF1 
Mutations
ICGC Data PortalARHGEF1 
TCGA Data PortalARHGEF1 
Broad Tumor PortalARHGEF1
OASIS PortalARHGEF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARHGEF1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DARHGEF1
Mutations and Diseases : HGMDARHGEF1
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 ARHGEF1
DgiDB (Drug Gene Interaction Database)ARHGEF1
DoCM (Curated mutations)ARHGEF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARHGEF1 (select a term)
intoGenARHGEF1
Cancer3DARHGEF1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601855    618459   
Orphanet
DisGeNETARHGEF1
MedgenARHGEF1
Genetic Testing Registry ARHGEF1
NextProtQ92888 [Medical]
TSGene9138
GENETestsARHGEF1
Target ValidationARHGEF1
Huge Navigator ARHGEF1 [HugePedia]
snp3D : Map Gene to Disease9138
BioCentury BCIQARHGEF1
ClinGenARHGEF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9138
Chemical/Pharm GKB GenePA24966
Clinical trialARHGEF1
Miscellaneous
canSAR (ICR)ARHGEF1 (select the gene name)
DataMed IndexARHGEF1
Probes
Litterature
PubMed77 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGEF1
EVEXARHGEF1
GoPubMedARHGEF1
iHOPARHGEF1
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 : Wed Nov 13 17:32:53 CET 2019
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