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PLEKHG3 (pleckstrin homology and RhoGEF domain containing G3)

Identity

Alias_namesKIAA0599
KIAA0599
pleckstrin homology domain containing, family G (with RhoGef domain) member 3
Alias_symbol (synonym)ARHGEF43
Other alias
HGNC (Hugo) PLEKHG3
LocusID (NCBI) 26030
Atlas_Id 71979
Location 14q23.3  [Link to chromosome band 14q23]
Location_base_pair Starts at 64704408 and ends at 64744346 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)
PLEKHG3 (14q23.3) / MTHFD1 (14q23.3)

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

 


External links

Nomenclature
HGNC (Hugo)PLEKHG3   20364
Cards
Entrez_Gene (NCBI)PLEKHG3  26030  pleckstrin homology and RhoGEF domain containing G3
AliasesARHGEF43; KIAA0599
GeneCards (Weizmann)PLEKHG3
Ensembl hg19 (Hinxton)ENSG00000126822 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000126822 [Gene_View]  chr14:64704408-64744346 [Contig_View]  PLEKHG3 [Vega]
ICGC DataPortalENSG00000126822
TCGA cBioPortalPLEKHG3
AceView (NCBI)PLEKHG3
Genatlas (Paris)PLEKHG3
WikiGenes26030
SOURCE (Princeton)PLEKHG3
Genetics Home Reference (NIH)PLEKHG3
Genomic and cartography
GoldenPath hg38 (UCSC)PLEKHG3  -     chr14:64704408-64744346 +  14q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEKHG3  -     14q23.3   [Description]    (hg19-Feb_2009)
EnsemblPLEKHG3 - 14q23.3 [CytoView hg19]  PLEKHG3 - 14q23.3 [CytoView hg38]
Mapping of homologs : NCBIPLEKHG3 [Mapview hg19]  PLEKHG3 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB011171 AK074169 BC004298 BC011891 BC063554
RefSeq transcript (Entrez)NM_001308147 NM_015549
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLEKHG3
Cluster EST : UnigeneHs.509637 [ NCBI ]
CGAP (NCI)Hs.509637
Alternative Splicing GalleryENSG00000126822
Gene ExpressionPLEKHG3 [ NCBI-GEO ]   PLEKHG3 [ EBI - ARRAY_EXPRESS ]   PLEKHG3 [ SEEK ]   PLEKHG3 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHG3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26030
GTEX Portal (Tissue expression)PLEKHG3
Human Protein AtlasENSG00000126822-PLEKHG3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA1L390   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA1L390  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA1L390
Splice isoforms : SwissVarA1L390
PhosPhoSitePlusA1L390
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)DH-domain    PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)PH (PF00169)    RhoGEF (PF00621)   
Domain families : Pfam (NCBI)pfam00169    pfam00621   
Domain families : Smart (EMBL)PH (SM00233)  RhoGEF (SM00325)  
Conserved Domain (NCBI)PLEKHG3
DMDM Disease mutations26030
Blocks (Seattle)PLEKHG3
SuperfamilyA1L390
Human Protein Atlas [tissue]ENSG00000126822-PLEKHG3 [tissue]
Peptide AtlasA1L390
HPRD17861
IPIIPI00291711   IPI00867518   IPI00867678   IPI01025152   IPI01025031   IPI01024782   IPI01025622   
Protein Interaction databases
DIP (DOE-UCLA)A1L390
IntAct (EBI)A1L390
FunCoupENSG00000126822
BioGRIDPLEKHG3
STRING (EMBL)PLEKHG3
ZODIACPLEKHG3
Ontologies - Pathways
QuickGOA1L390
Ontology : AmiGORho guanyl-nucleotide exchange factor activity  regulation of Rho protein signal transduction  positive regulation of GTPase activity  
Ontology : EGO-EBIRho guanyl-nucleotide exchange factor activity  regulation of Rho protein signal transduction  positive regulation of GTPase activity  
NDEx NetworkPLEKHG3
Atlas of Cancer Signalling NetworkPLEKHG3
Wikipedia pathwaysPLEKHG3
Orthology - Evolution
OrthoDB26030
GeneTree (enSembl)ENSG00000126822
Phylogenetic Trees/Animal Genes : TreeFamPLEKHG3
HOVERGENA1L390
HOGENOMA1L390
Homologs : HomoloGenePLEKHG3
Homology/Alignments : Family Browser (UCSC)PLEKHG3
Gene fusions - Rearrangements
Tumor Fusion PortalPLEKHG3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHG3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHG3
dbVarPLEKHG3
ClinVarPLEKHG3
1000_GenomesPLEKHG3 
Exome Variant ServerPLEKHG3
ExAC (Exome Aggregation Consortium)ENSG00000126822
GNOMAD BrowserENSG00000126822
Genetic variants : HAPMAP26030
Genomic Variants (DGV)PLEKHG3 [DGVbeta]
DECIPHERPLEKHG3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLEKHG3 
Mutations
ICGC Data PortalPLEKHG3 
TCGA Data PortalPLEKHG3 
Broad Tumor PortalPLEKHG3
OASIS PortalPLEKHG3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHG3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHG3
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 PLEKHG3
DgiDB (Drug Gene Interaction Database)PLEKHG3
DoCM (Curated mutations)PLEKHG3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHG3 (select a term)
intoGenPLEKHG3
Cancer3DPLEKHG3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETPLEKHG3
MedgenPLEKHG3
Genetic Testing Registry PLEKHG3
NextProtA1L390 [Medical]
TSGene26030
GENETestsPLEKHG3
Target ValidationPLEKHG3
Huge Navigator PLEKHG3 [HugePedia]
snp3D : Map Gene to Disease26030
BioCentury BCIQPLEKHG3
ClinGenPLEKHG3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26030
Chemical/Pharm GKB GenePA134925358
Clinical trialPLEKHG3
Miscellaneous
canSAR (ICR)PLEKHG3 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHG3
EVEXPLEKHG3
GoPubMedPLEKHG3
iHOPPLEKHG3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:30:17 CET 2017

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