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ARHGAP18 (Rho GTPase activating protein 18)

Identity

Alias_symbol (synonym)MacGAP
bA307O14.2
Other aliasSENEX
HGNC (Hugo) ARHGAP18
LocusID (NCBI) 93663
Atlas_Id 43135
Location 6q22.33  [Link to chromosome band 6q22]
Location_base_pair Starts at 129577095 and ends at 129710225 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)
ARHGAP18 (6q22.33) / CEP85L (6q22.31)ARHGAP18 (6q22.33) / KMT2A (11q23.3)COL3A1 (2q32.2) / ARHGAP18 (6q22.33)
MAN1A1 (6q22.31) / ARHGAP18 (6q22.33)ARHGAP18 6q22.33 C6orf204MAN1A1 6q22.31 / ARHGAP18 6q22.33

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 ]
  ARHGAP18/CEP85L (6q22)
MAN1A1/ARHGAP18 (6q22)


External links

Nomenclature
HGNC (Hugo)ARHGAP18   21035
Cards
Entrez_Gene (NCBI)ARHGAP18  93663  Rho GTPase activating protein 18
AliasesMacGAP; SENEX; bA307O14.2
GeneCards (Weizmann)ARHGAP18
Ensembl hg19 (Hinxton)ENSG00000146376 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146376 [Gene_View]  ENSG00000146376 [Sequence]  chr6:129577095-129710225 [Contig_View]  ARHGAP18 [Vega]
ICGC DataPortalENSG00000146376
TCGA cBioPortalARHGAP18
AceView (NCBI)ARHGAP18
Genatlas (Paris)ARHGAP18
WikiGenes93663
SOURCE (Princeton)ARHGAP18
Genetics Home Reference (NIH)ARHGAP18
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGAP18  -     chr6:129577095-129710225 -  6q22.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGAP18  -     6q22.33   [Description]    (hg19-Feb_2009)
EnsemblARHGAP18 - 6q22.33 [CytoView hg19]  ARHGAP18 - 6q22.33 [CytoView hg38]
Mapping of homologs : NCBIARHGAP18 [Mapview hg19]  ARHGAP18 [Mapview hg38]
OMIM613351   
Gene and transcription
Genbank (Entrez)AB053293 AI337078 AK002195 AK098594 AK307796
RefSeq transcript (Entrez)NM_033515
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARHGAP18
Cluster EST : UnigeneHs.486458 [ NCBI ]
CGAP (NCI)Hs.486458
Alternative Splicing GalleryENSG00000146376
Gene ExpressionARHGAP18 [ NCBI-GEO ]   ARHGAP18 [ EBI - ARRAY_EXPRESS ]   ARHGAP18 [ SEEK ]   ARHGAP18 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGAP18 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)93663
GTEX Portal (Tissue expression)ARHGAP18
Human Protein AtlasENSG00000146376-ARHGAP18 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N392   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N392  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N392
Splice isoforms : SwissVarQ8N392
PhosPhoSitePlusQ8N392
Domaine pattern : Prosite (Expaxy)RHOGAP (PS50238)   
Domains : Interpro (EBI)Rho_GTPase_activation_prot    RhoGAP_dom   
Domain families : Pfam (Sanger)RhoGAP (PF00620)   
Domain families : Pfam (NCBI)pfam00620   
Domain families : Smart (EMBL)RhoGAP (SM00324)  
Conserved Domain (NCBI)ARHGAP18
DMDM Disease mutations93663
Blocks (Seattle)ARHGAP18
SuperfamilyQ8N392
Human Protein Atlas [tissue]ENSG00000146376-ARHGAP18 [tissue]
Peptide AtlasQ8N392
HPRD12474
IPIIPI00296353   IPI00760924   
Protein Interaction databases
DIP (DOE-UCLA)Q8N392
IntAct (EBI)Q8N392
FunCoupENSG00000146376
BioGRIDARHGAP18
STRING (EMBL)ARHGAP18
ZODIACARHGAP18
Ontologies - Pathways
QuickGOQ8N392
Ontology : AmiGOGTPase activator activity  GTPase activator activity  GTPase activator activity  cytoplasm  cytoplasm  cytosol  cytosol  plasma membrane  small GTPase mediated signal transduction  regulation of cell shape  nuclear speck  regulation of actin filament polymerization  regulation of actin filament polymerization  regulation of actin cytoskeleton organization  regulation of actin cytoskeleton organization  positive regulation of GTPase activity  cadherin binding  regulation of small GTPase mediated signal transduction  regulation of small GTPase mediated signal transduction  regulation of small GTPase mediated signal transduction  regulation of cell motility  
Ontology : EGO-EBIGTPase activator activity  GTPase activator activity  GTPase activator activity  cytoplasm  cytoplasm  cytosol  cytosol  plasma membrane  small GTPase mediated signal transduction  regulation of cell shape  nuclear speck  regulation of actin filament polymerization  regulation of actin filament polymerization  regulation of actin cytoskeleton organization  regulation of actin cytoskeleton organization  positive regulation of GTPase activity  cadherin binding  regulation of small GTPase mediated signal transduction  regulation of small GTPase mediated signal transduction  regulation of small GTPase mediated signal transduction  regulation of cell motility  
NDEx NetworkARHGAP18
Atlas of Cancer Signalling NetworkARHGAP18
Wikipedia pathwaysARHGAP18
Orthology - Evolution
OrthoDB93663
GeneTree (enSembl)ENSG00000146376
Phylogenetic Trees/Animal Genes : TreeFamARHGAP18
HOVERGENQ8N392
HOGENOMQ8N392
Homologs : HomoloGeneARHGAP18
Homology/Alignments : Family Browser (UCSC)ARHGAP18
Gene fusions - Rearrangements
Fusion : MitelmanARHGAP18/KMT2A [6q22.33/11q23.3]  
Fusion : MitelmanMAN1A1/ARHGAP18 [6q22.31/6q22.33]  [t(6;6)(q22;q22)]  
Fusion PortalARHGAP18 6q22.33 C6orf204 BRCA
Fusion PortalMAN1A1 6q22.31 ARHGAP18 6q22.33 BRCA
Fusion : QuiverARHGAP18
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGAP18 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGAP18
dbVarARHGAP18
ClinVarARHGAP18
1000_GenomesARHGAP18 
Exome Variant ServerARHGAP18
ExAC (Exome Aggregation Consortium)ENSG00000146376
GNOMAD BrowserENSG00000146376
Varsome BrowserARHGAP18
Genetic variants : HAPMAP93663
Genomic Variants (DGV)ARHGAP18 [DGVbeta]
DECIPHERARHGAP18 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARHGAP18 
Mutations
ICGC Data PortalARHGAP18 
TCGA Data PortalARHGAP18 
Broad Tumor PortalARHGAP18
OASIS PortalARHGAP18 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARHGAP18  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDARHGAP18
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 ARHGAP18
DgiDB (Drug Gene Interaction Database)ARHGAP18
DoCM (Curated mutations)ARHGAP18 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARHGAP18 (select a term)
intoGenARHGAP18
Cancer3DARHGAP18(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613351   
Orphanet
DisGeNETARHGAP18
MedgenARHGAP18
Genetic Testing Registry ARHGAP18
NextProtQ8N392 [Medical]
TSGene93663
GENETestsARHGAP18
Target ValidationARHGAP18
Huge Navigator ARHGAP18 [HugePedia]
snp3D : Map Gene to Disease93663
BioCentury BCIQARHGAP18
ClinGenARHGAP18
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD93663
Chemical/Pharm GKB GenePA134884487
Clinical trialARHGAP18
Miscellaneous
canSAR (ICR)ARHGAP18 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGAP18
EVEXARHGAP18
GoPubMedARHGAP18
iHOPARHGAP18
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 Aug 27 11:09:47 CEST 2018

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