Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ARHGAP12 (Rho GTPase activating protein 12)

Identity

Alias_symbol (synonym)FLJ20737
FLJ10971
FLJ21785
Other alias-
HGNC (Hugo) ARHGAP12
LocusID (NCBI) 94134
Atlas_Id 43132
Location 10p11.22  [Link to chromosome band 10p11]
Location_base_pair Starts at 31805398 and ends at 31928876 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)
ARHGAP12 (10p11.22) / ARHGAP12 (10p11.22)ARHGAP12 (10p11.22) / DESI1 (22q13.2)ARHGAP12 (10p11.22) / KIF5B (10p11.22)
ARHGAP12 (10p11.22) / SORCS3 (10q25.1)PPIG (2q31.1) / ARHGAP12 (10p11.22)ARHGAP12 10p11.22 PPPDE2
ARHGAP12 10p11.22 / SORCS3 10q25.1

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(10;10)(p11;q25) ARHGAP12/SORCS3
t(10;22)(p11;q13) ARHGAP12/DESI1

External links

Nomenclature
HGNC (Hugo)ARHGAP12   16348
Cards
Entrez_Gene (NCBI)ARHGAP12  94134  Rho GTPase activating protein 12
Aliases
GeneCards (Weizmann)ARHGAP12
Ensembl hg19 (Hinxton)ENSG00000165322 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165322 [Gene_View]  chr10:31805398-31928876 [Contig_View]  ARHGAP12 [Vega]
ICGC DataPortalENSG00000165322
TCGA cBioPortalARHGAP12
AceView (NCBI)ARHGAP12
Genatlas (Paris)ARHGAP12
WikiGenes94134
SOURCE (Princeton)ARHGAP12
Genetics Home Reference (NIH)ARHGAP12
Genomic and cartography
GoldenPath hg38 (UCSC)ARHGAP12  -     chr10:31805398-31928876 -  10p11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARHGAP12  -     10p11.22   [Description]    (hg19-Feb_2009)
EnsemblARHGAP12 - 10p11.22 [CytoView hg19]  ARHGAP12 - 10p11.22 [CytoView hg38]
Mapping of homologs : NCBIARHGAP12 [Mapview hg19]  ARHGAP12 [Mapview hg38]
OMIM610577   
Gene and transcription
Genbank (Entrez)AF131804 AK000744 AK001833 AK025438 AK091182
RefSeq transcript (Entrez)NM_001270695 NM_001270696 NM_001270697 NM_001270698 NM_001270699 NM_018287
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARHGAP12
Cluster EST : UnigeneHs.741991 [ NCBI ]
CGAP (NCI)Hs.741991
Alternative Splicing GalleryENSG00000165322
Gene ExpressionARHGAP12 [ NCBI-GEO ]   ARHGAP12 [ EBI - ARRAY_EXPRESS ]   ARHGAP12 [ SEEK ]   ARHGAP12 [ MEM ]
Gene Expression Viewer (FireBrowse)ARHGAP12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)94134
GTEX Portal (Tissue expression)ARHGAP12
Human Protein AtlasENSG00000165322-ARHGAP12 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IWW6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IWW6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IWW6
Splice isoforms : SwissVarQ8IWW6
PhosPhoSitePlusQ8IWW6
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    RHOGAP (PS50238)    SH3 (PS50002)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)PH_dom-like    PH_domain    Rho_GTPase_activation_prot    RhoGAP_dom    SH3_domain    WW_dom   
Domain families : Pfam (Sanger)PH (PF00169)    RhoGAP (PF00620)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam00169    pfam00620    pfam14604   
Domain families : Smart (EMBL)PH (SM00233)  RhoGAP (SM00324)  SH3 (SM00326)  WW (SM00456)  
Conserved Domain (NCBI)ARHGAP12
DMDM Disease mutations94134
Blocks (Seattle)ARHGAP12
SuperfamilyQ8IWW6
Human Protein Atlas [tissue]ENSG00000165322-ARHGAP12 [tissue]
Peptide AtlasQ8IWW6
HPRD06446
IPIIPI00328279   IPI00217418   IPI00410501   IPI00643949   
Protein Interaction databases
DIP (DOE-UCLA)Q8IWW6
IntAct (EBI)Q8IWW6
FunCoupENSG00000165322
BioGRIDARHGAP12
STRING (EMBL)ARHGAP12
ZODIACARHGAP12
Ontologies - Pathways
QuickGOQ8IWW6
Ontology : AmiGOphagocytic cup  morphogenesis of an epithelial sheet  GTPase activator activity  cytosol  phagocytosis, engulfment  actin filament organization  signal transduction  positive regulation of GTPase activity  regulation of small GTPase mediated signal transduction  negative regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBIphagocytic cup  morphogenesis of an epithelial sheet  GTPase activator activity  cytosol  phagocytosis, engulfment  actin filament organization  signal transduction  positive regulation of GTPase activity  regulation of small GTPase mediated signal transduction  negative regulation of small GTPase mediated signal transduction  
NDEx NetworkARHGAP12
Atlas of Cancer Signalling NetworkARHGAP12
Wikipedia pathwaysARHGAP12
Orthology - Evolution
OrthoDB94134
GeneTree (enSembl)ENSG00000165322
Phylogenetic Trees/Animal Genes : TreeFamARHGAP12
HOVERGENQ8IWW6
HOGENOMQ8IWW6
Homologs : HomoloGeneARHGAP12
Homology/Alignments : Family Browser (UCSC)ARHGAP12
Gene fusions - Rearrangements
Fusion : MitelmanARHGAP12/DESI1 [10p11.22/22q13.2]  
Fusion : MitelmanARHGAP12/SORCS3 [10p11.22/10q25.1]  [t(10;10)(p11;q25)]  
Fusion: TCGA_MDACCARHGAP12 10p11.22 PPPDE2 BRCA
Fusion: TCGA_MDACCARHGAP12 10p11.22 SORCS3 10q25.1 HNSC
Fusion PortalARHGAP12 10p11.22 PPPDE2 BRCA
Fusion PortalARHGAP12 10p11.22 SORCS3 10q25.1 HNSC
Fusion : QuiverARHGAP12
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARHGAP12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARHGAP12
dbVarARHGAP12
ClinVarARHGAP12
1000_GenomesARHGAP12 
Exome Variant ServerARHGAP12
ExAC (Exome Aggregation Consortium)ENSG00000165322
GNOMAD BrowserENSG00000165322
Genetic variants : HAPMAP94134
Genomic Variants (DGV)ARHGAP12 [DGVbeta]
DECIPHERARHGAP12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARHGAP12 
Mutations
ICGC Data PortalARHGAP12 
TCGA Data PortalARHGAP12 
Broad Tumor PortalARHGAP12
OASIS PortalARHGAP12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARHGAP12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDARHGAP12
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 ARHGAP12
DgiDB (Drug Gene Interaction Database)ARHGAP12
DoCM (Curated mutations)ARHGAP12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARHGAP12 (select a term)
intoGenARHGAP12
Cancer3DARHGAP12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610577   
Orphanet
DisGeNETARHGAP12
MedgenARHGAP12
Genetic Testing Registry ARHGAP12
NextProtQ8IWW6 [Medical]
TSGene94134
GENETestsARHGAP12
Target ValidationARHGAP12
Huge Navigator ARHGAP12 [HugePedia]
snp3D : Map Gene to Disease94134
BioCentury BCIQARHGAP12
ClinGenARHGAP12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD94134
Chemical/Pharm GKB GenePA24957
Clinical trialARHGAP12
Miscellaneous
canSAR (ICR)ARHGAP12 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARHGAP12
EVEXARHGAP12
GoPubMedARHGAP12
iHOPARHGAP12
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 Feb 28 13:01:35 CET 2018
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