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PLEKHG6 (pleckstrin homology and RhoGEF domain containing G6)

Identity

Alias_namespleckstrin homology domain containing
Alias_symbol (synonym)FLJ10665
MYOGEF
Other aliasMyoGEF
HGNC (Hugo) PLEKHG6
LocusID (NCBI) 55200
Atlas_Id 51012
Location 12p13.31  [Link to chromosome band 12p13]
Location_base_pair Starts at 6310933 and ends at 6328506 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ETV6 (12p13.2) / PLEKHG6 (12p13.31)PLEKHG6 (12p13.31) / TEP1 (14q11.2)ETV6 12p13.2 / PLEKHG6 12p13.31

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)PLEKHG6   25562
Cards
Entrez_Gene (NCBI)PLEKHG6  55200  pleckstrin homology and RhoGEF domain containing G6
AliasesMyoGEF
GeneCards (Weizmann)PLEKHG6
Ensembl hg19 (Hinxton)ENSG00000008323 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000008323 [Gene_View]  chr12:6310933-6328506 [Contig_View]  PLEKHG6 [Vega]
ICGC DataPortalENSG00000008323
TCGA cBioPortalPLEKHG6
AceView (NCBI)PLEKHG6
Genatlas (Paris)PLEKHG6
WikiGenes55200
SOURCE (Princeton)PLEKHG6
Genetics Home Reference (NIH)PLEKHG6
Genomic and cartography
GoldenPath hg38 (UCSC)PLEKHG6  -     chr12:6310933-6328506 +  12p13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEKHG6  -     12p13.31   [Description]    (hg19-Feb_2009)
EnsemblPLEKHG6 - 12p13.31 [CytoView hg19]  PLEKHG6 - 12p13.31 [CytoView hg38]
Mapping of homologs : NCBIPLEKHG6 [Mapview hg19]  PLEKHG6 [Mapview hg38]
OMIM611743   
Gene and transcription
Genbank (Entrez)AF289613 AK001527 AK023741 AK095373 AW001611
RefSeq transcript (Entrez)NM_001144856 NM_001144857 NM_018173
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLEKHG6
Cluster EST : UnigeneHs.631660 [ NCBI ]
CGAP (NCI)Hs.631660
Alternative Splicing GalleryENSG00000008323
Gene ExpressionPLEKHG6 [ NCBI-GEO ]   PLEKHG6 [ EBI - ARRAY_EXPRESS ]   PLEKHG6 [ SEEK ]   PLEKHG6 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHG6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55200
GTEX Portal (Tissue expression)PLEKHG6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ3KR16   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ3KR16  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ3KR16
Splice isoforms : SwissVarQ3KR16
PhosPhoSitePlusQ3KR16
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)DH-domain    PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)RhoGEF (PF00621)   
Domain families : Pfam (NCBI)pfam00621   
Domain families : Smart (EMBL)PH (SM00233)  RhoGEF (SM00325)  
Conserved Domain (NCBI)PLEKHG6
DMDM Disease mutations55200
Blocks (Seattle)PLEKHG6
SuperfamilyQ3KR16
Human Protein AtlasENSG00000008323
Peptide AtlasQ3KR16
HPRD07692
IPIIPI00018837   IPI00793050   IPI00103883   IPI01012262   
Protein Interaction databases
DIP (DOE-UCLA)Q3KR16
IntAct (EBI)Q3KR16
FunCoupENSG00000008323
BioGRIDPLEKHG6
STRING (EMBL)PLEKHG6
ZODIACPLEKHG6
Ontologies - Pathways
QuickGOQ3KR16
Ontology : AmiGOspindle pole  Rho guanyl-nucleotide exchange factor activity  GTPase activator activity  protein binding  cytoplasm  plasma membrane  microvillus  cleavage furrow  regulation of Rho protein signal transduction  positive regulation of GTPase activity  
Ontology : EGO-EBIspindle pole  Rho guanyl-nucleotide exchange factor activity  GTPase activator activity  protein binding  cytoplasm  plasma membrane  microvillus  cleavage furrow  regulation of Rho protein signal transduction  positive regulation of GTPase activity  
NDEx NetworkPLEKHG6
Atlas of Cancer Signalling NetworkPLEKHG6
Wikipedia pathwaysPLEKHG6
Orthology - Evolution
OrthoDB55200
GeneTree (enSembl)ENSG00000008323
Phylogenetic Trees/Animal Genes : TreeFamPLEKHG6
HOVERGENQ3KR16
HOGENOMQ3KR16
Homologs : HomoloGenePLEKHG6
Homology/Alignments : Family Browser (UCSC)PLEKHG6
Gene fusions - Rearrangements
Fusion : MitelmanETV6/PLEKHG6 [12p13.2/12p13.31]  [t(12;12)(p13;p13)]  
Fusion: TCGAETV6 12p13.2 PLEKHG6 12p13.31 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHG6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHG6
dbVarPLEKHG6
ClinVarPLEKHG6
1000_GenomesPLEKHG6 
Exome Variant ServerPLEKHG6
ExAC (Exome Aggregation Consortium)PLEKHG6 (select the gene name)
Genetic variants : HAPMAP55200
Genomic Variants (DGV)PLEKHG6 [DGVbeta]
DECIPHERPLEKHG6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLEKHG6 
Mutations
ICGC Data PortalPLEKHG6 
TCGA Data PortalPLEKHG6 
Broad Tumor PortalPLEKHG6
OASIS PortalPLEKHG6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHG6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHG6
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 PLEKHG6
DgiDB (Drug Gene Interaction Database)PLEKHG6
DoCM (Curated mutations)PLEKHG6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHG6 (select a term)
intoGenPLEKHG6
Cancer3DPLEKHG6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611743   
Orphanet
MedgenPLEKHG6
Genetic Testing Registry PLEKHG6
NextProtQ3KR16 [Medical]
TSGene55200
GENETestsPLEKHG6
Target ValidationPLEKHG6
Huge Navigator PLEKHG6 [HugePedia]
snp3D : Map Gene to Disease55200
BioCentury BCIQPLEKHG6
ClinGenPLEKHG6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55200
Chemical/Pharm GKB GenePA142671165
Clinical trialPLEKHG6
Miscellaneous
canSAR (ICR)PLEKHG6 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHG6
EVEXPLEKHG6
GoPubMedPLEKHG6
iHOPPLEKHG6
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 14:03:35 CEST 2017

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