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ARHGEF17 (Rho guanine nucleotide exchange factor 17)

Identity

Alias_namesRho guanine nucleotide exchange factor (GEF) 17
Alias_symbol (synonym)TEM4
KIAA0337
p164-RhoGEF
Other aliasP164RHOGEF
HGNC (Hugo) ARHGEF17
LocusID (NCBI) 9828
Atlas_Id 43147
Location 11q13.4  [Link to chromosome band 11q13]
Location_base_pair Starts at 73019663 and ends at 73080425 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ARHGEF17 (11q13.4) / ARHGEF17 (11q13.4)ARHGEF17 (11q13.4) / EP300 (22q13.2)ARHGEF17 (11q13.4) / SHANK2 (11q13.3)
ARHGEF17 (11q13.4) / WDR74 (11q12.3)KMT2A (11q23.3) / ARHGEF17 (11q13.4)MYC (8q24.21) / ARHGEF17 (11q13.4)
SHANK2 (11q13.3) / ARHGEF17 (11q13.4)ARHGEF17 11q13.4 / EP300 22q13.2ARHGEF17 11q13.4 / WDR74 11q12.3
SHANK2 11q13.3 / ARHGEF17 11q13.4

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(11;11)(q13;q23) KMT2A/ARHGEF17


External links

Nomenclature
HGNC (Hugo)ARHGEF17   21726
Cards
Entrez_Gene (NCBI)ARHGEF17  9828  Rho guanine nucleotide exchange factor 17
AliasesP164RHOGEF; TEM4; p164-RhoGEF
GeneCards (Weizmann)ARHGEF17
Ensembl hg19 (Hinxton)ENSG00000110237 [Gene_View]  chr11:73019663-73080425 [Contig_View]  ARHGEF17 [Vega]
Ensembl hg38 (Hinxton)ENSG00000110237 [Gene_View]  chr11:73019663-73080425 [Contig_View]  ARHGEF17 [Vega]
ICGC DataPortalENSG00000110237
TCGA cBioPortalARHGEF17
AceView (NCBI)ARHGEF17
Genatlas (Paris)ARHGEF17
WikiGenes9828
SOURCE (Princeton)ARHGEF17
Genetics Home Reference (NIH)ARHGEF17
Genomic and cartography
GoldenPath hg19 (UCSC)ARHGEF17  -     chr11:73019663-73080425 +  11q13.4   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ARHGEF17  -     11q13.4   [Description]    (hg38-Dec_2013)
EnsemblARHGEF17 - 11q13.4 [CytoView hg19]  ARHGEF17 - 11q13.4 [CytoView hg38]
Mapping of homologs : NCBIARHGEF17 [Mapview hg19]  ARHGEF17 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB002335 AF378754 AI312037 AK074500 BC050031
RefSeq transcript (Entrez)NM_014786
RefSeq genomic (Entrez)NC_000011 NC_018922 NT_167190 NW_004929380
Consensus coding sequences : CCDS (NCBI)ARHGEF17
Cluster EST : UnigeneHs.573929 [ NCBI ]
CGAP (NCI)Hs.573929
Alternative Splicing GalleryENSG00000110237
Gene ExpressionARHGEF17 [ NCBI-GEO ]   ARHGEF17 [ EBI - ARRAY_EXPRESS ]   ARHGEF17 [ SEEK ]   ARHGEF17 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGEF17 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9828
GTEX Portal (Tissue expression)ARHGEF17
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96PE2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96PE2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96PE2
Splice isoforms : SwissVarQ96PE2
PhosPhoSitePlusQ96PE2
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)   
Domains : Interpro (EBI)DH-domain    PH_dom-like    WD40/YVTN_repeat-like_dom    WD40_repeat_dom   
Domain families : Pfam (Sanger)RhoGEF (PF00621)   
Domain families : Pfam (NCBI)pfam00621   
Domain families : Smart (EMBL)RhoGEF (SM00325)  
Conserved Domain (NCBI)ARHGEF17
DMDM Disease mutations9828
Blocks (Seattle)ARHGEF17
SuperfamilyQ96PE2
Human Protein AtlasENSG00000110237
Peptide AtlasQ96PE2
HPRD10658
IPIIPI00152007   IPI01014495   
Protein Interaction databases
DIP (DOE-UCLA)Q96PE2
IntAct (EBI)Q96PE2
FunCoupENSG00000110237
BioGRIDARHGEF17
STRING (EMBL)ARHGEF17
ZODIACARHGEF17
Ontologies - Pathways
QuickGOQ96PE2
Ontology : AmiGOguanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  cytosol  actin cytoskeleton organization  regulation of Rho protein signal transduction  positive regulation of apoptotic process  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  cytosol  actin cytoskeleton organization  regulation of Rho protein signal transduction  positive regulation of apoptotic process  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  regulation of small GTPase mediated signal transduction  
NDEx NetworkARHGEF17
Atlas of Cancer Signalling NetworkARHGEF17
Wikipedia pathwaysARHGEF17
Orthology - Evolution
OrthoDB9828
GeneTree (enSembl)ENSG00000110237
Phylogenetic Trees/Animal Genes : TreeFamARHGEF17
HOVERGENQ96PE2
HOGENOMQ96PE2
Homologs : HomoloGeneARHGEF17
Homology/Alignments : Family Browser (UCSC)ARHGEF17
Gene fusions - Rearrangements
Fusion : MitelmanARHGEF17/EP300 [11q13.4/22q13.2]  
Fusion : MitelmanARHGEF17/SHANK2 [11q13.4/11q13.3]  [t(11;11)(q13;q13)]  
Fusion : MitelmanARHGEF17/WDR74 [11q13.4/11q12.3]  [t(11;11)(q12;q13)]  
Fusion : MitelmanMYC/ARHGEF17 [8q24.21/11q13.4]  [t(8;11)(q24;q13)]  
Fusion : MitelmanSHANK2/ARHGEF17 [11q13.3/11q13.4]  [t(11;11)(q13;q13)]  
Fusion: TCGAARHGEF17 11q13.4 EP300 22q13.2 BRCA
Fusion: TCGAARHGEF17 11q13.4 WDR74 11q12.3 BRCA
Fusion: TCGASHANK2 11q13.3 ARHGEF17 11q13.4 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGEF17 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGEF17
dbVarARHGEF17
ClinVarARHGEF17
1000_GenomesARHGEF17 
Exome Variant ServerARHGEF17
ExAC (Exome Aggregation Consortium)ARHGEF17 (select the gene name)
Genetic variants : HAPMAP9828
Genomic Variants (DGV)ARHGEF17 [DGVbeta]
DECIPHER (Syndromes)11:73019663-73080425  ENSG00000110237
CONAN: Copy Number AnalysisARHGEF17 
Mutations
ICGC Data PortalARHGEF17 
TCGA Data PortalARHGEF17 
Broad Tumor PortalARHGEF17
OASIS PortalARHGEF17 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARHGEF17  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDARHGEF17
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ARHGEF17
DgiDB (Drug Gene Interaction Database)ARHGEF17
DoCM (Curated mutations)ARHGEF17 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARHGEF17 (select a term)
intoGenARHGEF17
Cancer3DARHGEF17(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenARHGEF17
Genetic Testing Registry ARHGEF17
NextProtQ96PE2 [Medical]
TSGene9828
GENETestsARHGEF17
Huge Navigator ARHGEF17 [HugePedia]
snp3D : Map Gene to Disease9828
BioCentury BCIQARHGEF17
ClinGenARHGEF17
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9828
Chemical/Pharm GKB GenePA134884537
Clinical trialARHGEF17
Miscellaneous
canSAR (ICR)ARHGEF17 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGEF17
EVEXARHGEF17
GoPubMedARHGEF17
iHOPARHGEF17
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:52:57 CEST 2017

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