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ARHGEF17 (Rho guanine nucleotide exchange factor 17)

Identity

Alias (NCBI)P164RHOGEF
RHOGEF17
TEM4
p164-RhoGEF
HGNC (Hugo) ARHGEF17
HGNC Alias symbTEM4
KIAA0337
p164-RhoGEF
HGNC Alias nameRho-specific guanine-nucleotide exchange factor 164 kDa
 tumor endothelial marker 4
HGNC Previous nameRho guanine nucleotide exchange factor (GEF) 17
LocusID (NCBI) 9828
Atlas_Id 43147
Location 11q13.4  [Link to chromosome band 11q13]
Location_base_pair Starts at 73308276 and ends at 73369388 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)
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



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  t(8;11)(q24;q13) MYC/ARHGEF17
t(11;11)(q12;q13) ARHGEF17/WDR74
ARHGEF17/SHANK2 (11q13)
SHANK2/ARHGEF17 (11q13)
t(11;22)(q13;q13) ARHGEF17/EP300


External links

Nomenclature
HGNC (Hugo)ARHGEF17   21726
Cards
Entrez_Gene (NCBI)ARHGEF17  9828  Rho guanine nucleotide exchange factor 17
AliasesP164RHOGEF; RHOGEF17; TEM4; p164-RhoGEF
GeneCards (Weizmann)ARHGEF17
Ensembl hg19 (Hinxton)ENSG00000110237 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110237 [Gene_View]  ENSG00000110237 [Sequence]  chr11:73308276-73369388 [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 hg38 (UCSC)ARHGEF17  -     chr11:73308276-73369388 +  11q13.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGEF17  -     11q13.4   [Description]    (hg19-Feb_2009)
GoldenPathARHGEF17 - 11q13.4 [CytoView hg19]  ARHGEF17 - 11q13.4 [CytoView hg38]
ImmunoBaseENSG00000110237
genome Data Viewer NCBIARHGEF17 [Mapview hg19]  
OMIM617043   
Gene and transcription
Genbank (Entrez)AB002335 AF378754 AI312037 AK074500 BC050031
RefSeq transcript (Entrez)NM_014786
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARHGEF17
Alternative Splicing GalleryENSG00000110237
Gene ExpressionARHGEF17 [ NCBI-GEO ]   ARHGEF17 [ EBI - ARRAY_EXPRESS ]   ARHGEF17 [ SEEK ]   ARHGEF17 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGEF17 [ Firebrowse - Broad ]
GenevisibleExpression of ARHGEF17 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9828
GTEX Portal (Tissue expression)ARHGEF17
Human Protein AtlasENSG00000110237-ARHGEF17 [pathology]   [cell]   [tissue]
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)ARHGEF10/ARHGEF17    ARHGEF17    DBL_dom_sf    DH-domain    PH-like_dom_sf    WD40/YVTN_repeat-like_dom_sf    WD40_repeat_dom_sf   
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 Atlas [tissue]ENSG00000110237-ARHGEF17 [tissue]
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  G protein-coupled receptor signaling pathway  actin cytoskeleton organization  actin cytoskeleton organization  positive regulation of apoptotic process  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  G protein-coupled receptor signaling pathway  actin cytoskeleton organization  actin cytoskeleton organization  positive regulation of apoptotic process  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
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]  
Fusion : MitelmanARHGEF17/WDR74 [11q13.4/11q12.3]  
Fusion : MitelmanMYC/ARHGEF17 [8q24.21/11q13.4]  
Fusion : MitelmanSHANK2/ARHGEF17 [11q13.3/11q13.4]  
Fusion PortalARHGEF17 11q13.4 EP300 22q13.2 BRCA
Fusion PortalARHGEF17 11q13.4 WDR74 11q12.3 BRCA
Fusion PortalSHANK2 11q13.3 ARHGEF17 11q13.4 BRCA
Fusion : QuiverARHGEF17
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGEF17 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGEF17
dbVarARHGEF17
ClinVarARHGEF17
1000_GenomesARHGEF17 
Exome Variant ServerARHGEF17
GNOMAD BrowserENSG00000110237
Varsome BrowserARHGEF17
Genetic variants : HAPMAP9828
Genomic Variants (DGV)ARHGEF17 [DGVbeta]
DECIPHERARHGEF17 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DARHGEF17
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617043   
Orphanet
DisGeNETARHGEF17
MedgenARHGEF17
Genetic Testing Registry ARHGEF17
NextProtQ96PE2 [Medical]
TSGene9828
GENETestsARHGEF17
Target ValidationARHGEF17
Huge Navigator ARHGEF17 [HugePedia]
snp3D : Map Gene to Disease9828
BioCentury BCIQARHGEF17
ClinGenARHGEF17
Clinical trials, drugs, therapy
Protein Interactions : CTD9828
Pharm GKB GenePA134884537
Clinical trialARHGEF17
Miscellaneous
canSAR (ICR)ARHGEF17 (select the gene name)
HarmonizomeARHGEF17
DataMed IndexARHGEF17
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGEF17
EVEXARHGEF17
GoPubMedARHGEF17
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 : Thu Jul 16 15:03:43 CEST 2020

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