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PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5)

Identity

Alias_namespleckstrin homology domain containing, family G (with RhoGef domain) member 5
Alias_symbol (synonym)KIAA0720
Syx
GEF720
Tech
Other aliasCMTRIC
DSMA4
HGNC (Hugo) PLEKHG5
LocusID (NCBI) 57449
Atlas_Id 71981
Location 1p36.31  [Link to chromosome band 1p36]
Location_base_pair Starts at 6466092 and ends at 6497424 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CLSTN1 (1p36.22) / PLEKHG5 (1p36.31)PLEKHG5 (1p36.31) / TNFRSF8 (1p36.22)

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)PLEKHG5   29105
LRG (Locus Reference Genomic)LRG_262
Cards
Entrez_Gene (NCBI)PLEKHG5  57449  pleckstrin homology and RhoGEF domain containing G5
AliasesCMTRIC; DSMA4; GEF720; Syx; 
Tech
GeneCards (Weizmann)PLEKHG5
Ensembl hg19 (Hinxton)ENSG00000171680 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171680 [Gene_View]  chr1:6466092-6497424 [Contig_View]  PLEKHG5 [Vega]
ICGC DataPortalENSG00000171680
TCGA cBioPortalPLEKHG5
AceView (NCBI)PLEKHG5
Genatlas (Paris)PLEKHG5
WikiGenes57449
SOURCE (Princeton)PLEKHG5
Genetics Home Reference (NIH)PLEKHG5
Genomic and cartography
GoldenPath hg38 (UCSC)PLEKHG5  -     chr1:6466092-6497424 -  1p36.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEKHG5  -     1p36.31   [Description]    (hg19-Feb_2009)
EnsemblPLEKHG5 - 1p36.31 [CytoView hg19]  PLEKHG5 - 1p36.31 [CytoView hg38]
Mapping of homologs : NCBIPLEKHG5 [Mapview hg19]  PLEKHG5 [Mapview hg38]
OMIM611067   611101   615376   
Gene and transcription
Genbank (Entrez)AB018263 AB097001 AK024676 AK091201 AK096347
RefSeq transcript (Entrez)NM_001042663 NM_001042664 NM_001042665 NM_001265592 NM_001265593 NM_001265594 NM_020631 NM_198681
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLEKHG5
Cluster EST : UnigeneHs.619982 [ NCBI ]
CGAP (NCI)Hs.619982
Alternative Splicing GalleryENSG00000171680
Gene ExpressionPLEKHG5 [ NCBI-GEO ]   PLEKHG5 [ EBI - ARRAY_EXPRESS ]   PLEKHG5 [ SEEK ]   PLEKHG5 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHG5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57449
GTEX Portal (Tissue expression)PLEKHG5
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94827   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94827  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94827
Splice isoforms : SwissVarO94827
PhosPhoSitePlusO94827
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)DH-domain    PH_dom-like    PH_domain    Ubiquitin-rel_dom   
Domain families : Pfam (Sanger)RhoGEF (PF00621)   
Domain families : Pfam (NCBI)pfam00621   
Domain families : Smart (EMBL)PH (SM00233)  RhoGEF (SM00325)  
Conserved Domain (NCBI)PLEKHG5
DMDM Disease mutations57449
Blocks (Seattle)PLEKHG5
SuperfamilyO94827
Human Protein AtlasENSG00000171680
Peptide AtlasO94827
HPRD11104
IPIIPI00642291   IPI01012377   IPI00640076   IPI00868983   IPI00394793   IPI00872583   IPI00922687   IPI01010210   IPI01009651   IPI00644911   
Protein Interaction databases
DIP (DOE-UCLA)O94827
IntAct (EBI)O94827
FunCoupENSG00000171680
BioGRIDPLEKHG5
STRING (EMBL)PLEKHG5
ZODIACPLEKHG5
Ontologies - Pathways
QuickGOO94827
Ontology : AmiGOsignal transducer activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  cytoplasm  cytosol  plasma membrane  cell-cell junction  signal transduction  lamellipodium  endocytic vesicle  regulation of Rho protein signal transduction  endothelial cell chemotaxis  positive regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of GTPase activity  perinuclear region of cytoplasm  regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBIsignal transducer activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  cytoplasm  cytosol  plasma membrane  cell-cell junction  signal transduction  lamellipodium  endocytic vesicle  regulation of Rho protein signal transduction  endothelial cell chemotaxis  positive regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of GTPase activity  perinuclear region of cytoplasm  regulation of small GTPase mediated signal transduction  
NDEx NetworkPLEKHG5
Atlas of Cancer Signalling NetworkPLEKHG5
Wikipedia pathwaysPLEKHG5
Orthology - Evolution
OrthoDB57449
GeneTree (enSembl)ENSG00000171680
Phylogenetic Trees/Animal Genes : TreeFamPLEKHG5
HOVERGENO94827
HOGENOMO94827
Homologs : HomoloGenePLEKHG5
Homology/Alignments : Family Browser (UCSC)PLEKHG5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHG5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHG5
dbVarPLEKHG5
ClinVarPLEKHG5
1000_GenomesPLEKHG5 
Exome Variant ServerPLEKHG5
ExAC (Exome Aggregation Consortium)PLEKHG5 (select the gene name)
Genetic variants : HAPMAP57449
Genomic Variants (DGV)PLEKHG5 [DGVbeta]
DECIPHERPLEKHG5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLEKHG5 
Mutations
ICGC Data PortalPLEKHG5 
TCGA Data PortalPLEKHG5 
Broad Tumor PortalPLEKHG5
OASIS PortalPLEKHG5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHG5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHG5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PLEKHG5
DgiDB (Drug Gene Interaction Database)PLEKHG5
DoCM (Curated mutations)PLEKHG5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHG5 (select a term)
intoGenPLEKHG5
Cancer3DPLEKHG5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611067    611101    615376   
Orphanet18527    22439   
MedgenPLEKHG5
Genetic Testing Registry PLEKHG5
NextProtO94827 [Medical]
TSGene57449
GENETestsPLEKHG5
Target ValidationPLEKHG5
Huge Navigator PLEKHG5 [HugePedia]
snp3D : Map Gene to Disease57449
BioCentury BCIQPLEKHG5
ClinGenPLEKHG5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57449
Chemical/Pharm GKB GenePA142671164
Clinical trialPLEKHG5
Miscellaneous
canSAR (ICR)PLEKHG5 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHG5
EVEXPLEKHG5
GoPubMedPLEKHG5
iHOPPLEKHG5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:34:44 CEST 2017

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