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ARHGEF7 (Rho guanine nucleotide exchange factor 7)

Identity

Alias_namesRho guanine nucleotide exchange factor (GEF) 7
Alias_symbol (synonym)KIAA0142
PIXB
DKFZp761K1021
Nbla10314
DKFZp686C12170
BETA-PIX
COOL1
P85SPR
P85
P85COOL1
P50BP
PAK3
P50
Other aliasCOOL-1
HGNC (Hugo) ARHGEF7
LocusID (NCBI) 8874
Atlas_Id 43153
Location 13q34  [Link to chromosome band 13q34]
Location_base_pair Starts at 111114619 and ends at 111295195 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARHGEF7 (13q34) / ARHGEF7 (13q34)ARHGEF7 (13q34) / ATP11A (13q34)ARHGEF7 (13q34) / KLF10 (8q22.3)
ARHGEF7 (13q34) / TUSC3 (8p22)ARHGEF7 (13q34) / ZDHHC11 (5p15.33)ARHGEF7 (13q34) / ZNF512 (2p23.3)
FOXP1 (3p13) / ARHGEF7 (13q34)MAPK1 (22q11.21) / ARHGEF7 (13q34)SNRPN (15q11.2) / ARHGEF7 (13q34)
WDR60 (7q36.3) / ARHGEF7 (13q34)ARHGEF7 13q34 / ATP11A 13q34ARHGEF7 13q34 / KLF10 8q22.3
MAPK1 22q11.21 / ARHGEF7 13q34

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  del(11)(q23q23) KMT2A/CBL::t(11;11)(q23;q23) KMT2A/CBL
t(5;12)(q33;q24) GIT2/PDGFRB


External links

Nomenclature
HGNC (Hugo)ARHGEF7   15607
Cards
Entrez_Gene (NCBI)ARHGEF7  8874  Rho guanine nucleotide exchange factor 7
AliasesBETA-PIX; COOL-1; COOL1; Nbla10314; 
P50; P50BP; P85; P85COOL1; P85SPR; PAK3; PIXB
GeneCards (Weizmann)ARHGEF7
Ensembl hg19 (Hinxton)ENSG00000102606 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102606 [Gene_View]  chr13:111114619-111295195 [Contig_View]  ARHGEF7 [Vega]
ICGC DataPortalENSG00000102606
TCGA cBioPortalARHGEF7
AceView (NCBI)ARHGEF7
Genatlas (Paris)ARHGEF7
WikiGenes8874
SOURCE (Princeton)ARHGEF7
Genetics Home Reference (NIH)ARHGEF7
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGEF7  -     chr13:111114619-111295195 +  13q34   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGEF7  -     13q34   [Description]    (hg19-Feb_2009)
EnsemblARHGEF7 - 13q34 [CytoView hg19]  ARHGEF7 - 13q34 [CytoView hg38]
Mapping of homologs : NCBIARHGEF7 [Mapview hg19]  ARHGEF7 [Mapview hg38]
OMIM605477   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001113511 NM_001113512 NM_001113513 NM_001320851 NM_001320852 NM_001320853 NM_001320854 NM_001330597 NM_001330598 NM_003899 NM_145735
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARHGEF7
Cluster EST : UnigeneHs.508738 [ NCBI ]
CGAP (NCI)Hs.508738
Alternative Splicing GalleryENSG00000102606
Gene ExpressionARHGEF7 [ NCBI-GEO ]   ARHGEF7 [ EBI - ARRAY_EXPRESS ]   ARHGEF7 [ SEEK ]   ARHGEF7 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGEF7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8874
GTEX Portal (Tissue expression)ARHGEF7
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14155   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14155  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14155
Splice isoforms : SwissVarQ14155
PhosPhoSitePlusQ14155
Domaine pattern : Prosite (Expaxy)CH (PS50021)    DH_1 (PS00741)    DH_2 (PS50010)    PH_DOMAIN (PS50003)    SH3 (PS50002)   
Domains : Interpro (EBI)CH-domain    DH-domain    GDS_CDC24_CS    PH_dom-like    PH_domain    SH3_2    SH3_domain   
Domain families : Pfam (Sanger)CH (PF00307)    PH (PF00169)    RhoGEF (PF00621)    SH3_2 (PF07653)   
Domain families : Pfam (NCBI)pfam00307    pfam00169    pfam00621    pfam07653   
Domain families : Smart (EMBL)CH (SM00033)  PH (SM00233)  RhoGEF (SM00325)  SH3 (SM00326)  
Conserved Domain (NCBI)ARHGEF7
DMDM Disease mutations8874
Blocks (Seattle)ARHGEF7
PDB (SRS)1BY1    1ZSG    2L3G   
PDB (PDBSum)1BY1    1ZSG    2L3G   
PDB (IMB)1BY1    1ZSG    2L3G   
PDB (RSDB)1BY1    1ZSG    2L3G   
Structural Biology KnowledgeBase1BY1    1ZSG    2L3G   
SCOP (Structural Classification of Proteins)1BY1    1ZSG    2L3G   
CATH (Classification of proteins structures)1BY1    1ZSG    2L3G   
SuperfamilyQ14155
Human Protein AtlasENSG00000102606
Peptide AtlasQ14155
HPRD05688
IPIIPI00947263   IPI00449907   IPI00449908   IPI00449909   IPI00900260   IPI00900378   IPI00922898   IPI00449906   IPI01014806   IPI00641543   IPI00790992   IPI00945027   IPI00945304   IPI00945477   IPI00945799   
Protein Interaction databases
DIP (DOE-UCLA)Q14155
IntAct (EBI)Q14155
FunCoupENSG00000102606
BioGRIDARHGEF7
STRING (EMBL)ARHGEF7
ZODIACARHGEF7
Ontologies - Pathways
QuickGOQ14155
Ontology : AmiGOstorage vacuole  ruffle  hematopoietic progenitor cell differentiation  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  protein binding  cytosol  plasma membrane  focal adhesion  cell cortex  Golgi organization  signal transduction  nervous system development  positive regulation of fibroblast migration  protein kinase binding  lamellipodium  lamellipodium assembly  positive regulation of protein binding  regulation of Rho protein signal transduction  intracellular signal transduction  negative regulation of epidermal growth factor receptor signaling pathway  neuron projection  neuronal cell body  positive regulation of apoptotic process  positive regulation of apoptotic process  protein complex  positive regulation of GTPase activity  positive regulation of GTPase activity  ephrin receptor signaling pathway  focal adhesion assembly  regulation of small GTPase mediated signal transduction  positive regulation of growth hormone secretion  positive regulation of substrate adhesion-dependent cell spreading  regulation of GTP binding  positive regulation of lamellipodium morphogenesis  
Ontology : EGO-EBIstorage vacuole  ruffle  hematopoietic progenitor cell differentiation  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  protein binding  cytosol  plasma membrane  focal adhesion  cell cortex  Golgi organization  signal transduction  nervous system development  positive regulation of fibroblast migration  protein kinase binding  lamellipodium  lamellipodium assembly  positive regulation of protein binding  regulation of Rho protein signal transduction  intracellular signal transduction  negative regulation of epidermal growth factor receptor signaling pathway  neuron projection  neuronal cell body  positive regulation of apoptotic process  positive regulation of apoptotic process  protein complex  positive regulation of GTPase activity  positive regulation of GTPase activity  ephrin receptor signaling pathway  focal adhesion assembly  regulation of small GTPase mediated signal transduction  positive regulation of growth hormone secretion  positive regulation of substrate adhesion-dependent cell spreading  regulation of GTP binding  positive regulation of lamellipodium morphogenesis  
Pathways : KEGGRegulation of actin cytoskeleton   
NDEx NetworkARHGEF7
Atlas of Cancer Signalling NetworkARHGEF7
Wikipedia pathwaysARHGEF7
Orthology - Evolution
OrthoDB8874
GeneTree (enSembl)ENSG00000102606
Phylogenetic Trees/Animal Genes : TreeFamARHGEF7
HOVERGENQ14155
HOGENOMQ14155
Homologs : HomoloGeneARHGEF7
Homology/Alignments : Family Browser (UCSC)ARHGEF7
Gene fusions - Rearrangements
Fusion : MitelmanARHGEF7/KLF10 [13q34/8q22.3]  
Fusion : MitelmanMAPK1/ARHGEF7 [22q11.21/13q34]  [t(13;22)(q34;q11)]  
Fusion: TCGAARHGEF7 13q34 ATP11A 13q34 LUAD
Fusion: TCGAARHGEF7 13q34 KLF10 8q22.3 BLCA
Fusion: TCGAMAPK1 22q11.21 ARHGEF7 13q34 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGEF7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGEF7
dbVarARHGEF7
ClinVarARHGEF7
1000_GenomesARHGEF7 
Exome Variant ServerARHGEF7
ExAC (Exome Aggregation Consortium)ARHGEF7 (select the gene name)
Genetic variants : HAPMAP8874
Genomic Variants (DGV)ARHGEF7 [DGVbeta]
DECIPHERARHGEF7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARHGEF7 
Mutations
ICGC Data PortalARHGEF7 
TCGA Data PortalARHGEF7 
Broad Tumor PortalARHGEF7
OASIS PortalARHGEF7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARHGEF7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDARHGEF7
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ARHGEF7
DgiDB (Drug Gene Interaction Database)ARHGEF7
DoCM (Curated mutations)ARHGEF7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARHGEF7 (select a term)
intoGenARHGEF7
Cancer3DARHGEF7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605477   
Orphanet
MedgenARHGEF7
Genetic Testing Registry ARHGEF7
NextProtQ14155 [Medical]
TSGene8874
GENETestsARHGEF7
Target ValidationARHGEF7
Huge Navigator ARHGEF7 [HugePedia]
snp3D : Map Gene to Disease8874
BioCentury BCIQARHGEF7
ClinGenARHGEF7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8874
Chemical/Pharm GKB GenePA24977
Clinical trialARHGEF7
Miscellaneous
canSAR (ICR)ARHGEF7 (select the gene name)
Probes
Litterature
PubMed114 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGEF7
EVEXARHGEF7
GoPubMedARHGEF7
iHOPARHGEF7
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 25 18:58:00 CEST 2017

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