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PLEKHG1 (pleckstrin homology and RhoGEF domain containing G1)

Identity

Alias_namespleckstrin homology domain containing, family G (with RhoGef domain) member 1
Alias_symbol (synonym)KIAA1209
ARHGEF41
Other alias
HGNC (Hugo) PLEKHG1
LocusID (NCBI) 57480
Atlas_Id 71978
Location 6q25.1  [Link to chromosome band 6q25]
Location_base_pair Starts at 150599865 and ends at 150843665 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)
ARID1B (6q25.3) / PLEKHG1 (6q25.1)CCDC28B (1p35.1) / PLEKHG1 (6q25.1)COQ9 (16q21) / PLEKHG1 (6q25.1)
MTHFD1L (6q25.1) / PLEKHG1 (6q25.1)MYO1B (2q32.3) / PLEKHG1 (6q25.1)PLEKHG1 (6q25.1) / BMPR2 (2q33.1)
PLEKHG1 (6q25.1) / PLEKHG1 (6q25.1)ARID1B PLEKHG1MTHFD1L PLEKHG1

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(6;6)(q25;q25) ARID1B/PLEKHG1
t(6;6)(q25;q25) MTHFD1L/PLEKHG1


External links

Nomenclature
HGNC (Hugo)PLEKHG1   20884
Cards
Entrez_Gene (NCBI)PLEKHG1  57480  pleckstrin homology and RhoGEF domain containing G1
AliasesARHGEF41
GeneCards (Weizmann)PLEKHG1
Ensembl hg19 (Hinxton)ENSG00000120278 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120278 [Gene_View]  ENSG00000120278 [Sequence]  chr6:150599865-150843665 [Contig_View]  PLEKHG1 [Vega]
ICGC DataPortalENSG00000120278
TCGA cBioPortalPLEKHG1
AceView (NCBI)PLEKHG1
Genatlas (Paris)PLEKHG1
WikiGenes57480
SOURCE (Princeton)PLEKHG1
Genetics Home Reference (NIH)PLEKHG1
Genomic and cartography
GoldenPath hg38 (UCSC)PLEKHG1  -     chr6:150599865-150843665 +  6q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEKHG1  -     6q25.1   [Description]    (hg19-Feb_2009)
EnsemblPLEKHG1 - 6q25.1 [CytoView hg19]  PLEKHG1 - 6q25.1 [CytoView hg38]
Mapping of homologs : NCBIPLEKHG1 [Mapview hg19]  PLEKHG1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB033035 AJ420468 AK056300 AK293288 AK294798
RefSeq transcript (Entrez)NM_001029884 NM_001329798 NM_001329799 NM_001329800 NM_001329801 NM_001329802 NM_001329803 NM_001329804 NM_001329805 NM_001329806
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLEKHG1
Cluster EST : UnigeneHs.189781 [ NCBI ]
CGAP (NCI)Hs.189781
Alternative Splicing GalleryENSG00000120278
Gene ExpressionPLEKHG1 [ NCBI-GEO ]   PLEKHG1 [ EBI - ARRAY_EXPRESS ]   PLEKHG1 [ SEEK ]   PLEKHG1 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHG1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57480
GTEX Portal (Tissue expression)PLEKHG1
Human Protein AtlasENSG00000120278-PLEKHG1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULL1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9ULL1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9ULL1
Splice isoforms : SwissVarQ9ULL1
PhosPhoSitePlusQ9ULL1
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)PLEKHG1
DMDM Disease mutations57480
Blocks (Seattle)PLEKHG1
SuperfamilyQ9ULL1
Human Protein Atlas [tissue]ENSG00000120278-PLEKHG1 [tissue]
Peptide AtlasQ9ULL1
IPIIPI00008173   IPI00982303   IPI00647605   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULL1
IntAct (EBI)Q9ULL1
FunCoupENSG00000120278
BioGRIDPLEKHG1
STRING (EMBL)PLEKHG1
ZODIACPLEKHG1
Ontologies - Pathways
QuickGOQ9ULL1
Ontology : AmiGORho guanyl-nucleotide exchange factor activity  nucleus  nucleoplasm  regulation of Rho protein signal transduction  positive regulation of GTPase activity  
Ontology : EGO-EBIRho guanyl-nucleotide exchange factor activity  nucleus  nucleoplasm  regulation of Rho protein signal transduction  positive regulation of GTPase activity  
NDEx NetworkPLEKHG1
Atlas of Cancer Signalling NetworkPLEKHG1
Wikipedia pathwaysPLEKHG1
Orthology - Evolution
OrthoDB57480
GeneTree (enSembl)ENSG00000120278
Phylogenetic Trees/Animal Genes : TreeFamPLEKHG1
HOVERGENQ9ULL1
HOGENOMQ9ULL1
Homologs : HomoloGenePLEKHG1
Homology/Alignments : Family Browser (UCSC)PLEKHG1
Gene fusions - Rearrangements
Fusion PortalARID1B PLEKHG1
Fusion PortalMTHFD1L PLEKHG1
Fusion : QuiverPLEKHG1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHG1
dbVarPLEKHG1
ClinVarPLEKHG1
1000_GenomesPLEKHG1 
Exome Variant ServerPLEKHG1
ExAC (Exome Aggregation Consortium)ENSG00000120278
GNOMAD BrowserENSG00000120278
Varsome BrowserPLEKHG1
Genetic variants : HAPMAP57480
Genomic Variants (DGV)PLEKHG1 [DGVbeta]
DECIPHERPLEKHG1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLEKHG1 
Mutations
ICGC Data PortalPLEKHG1 
TCGA Data PortalPLEKHG1 
Broad Tumor PortalPLEKHG1
OASIS PortalPLEKHG1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHG1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHG1
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 PLEKHG1
DgiDB (Drug Gene Interaction Database)PLEKHG1
DoCM (Curated mutations)PLEKHG1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHG1 (select a term)
intoGenPLEKHG1
Cancer3DPLEKHG1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETPLEKHG1
MedgenPLEKHG1
Genetic Testing Registry PLEKHG1
NextProtQ9ULL1 [Medical]
TSGene57480
GENETestsPLEKHG1
Target ValidationPLEKHG1
Huge Navigator PLEKHG1 [HugePedia]
snp3D : Map Gene to Disease57480
BioCentury BCIQPLEKHG1
ClinGenPLEKHG1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57480
Chemical/Pharm GKB GenePA134922441
Clinical trialPLEKHG1
Miscellaneous
canSAR (ICR)PLEKHG1 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHG1
EVEXPLEKHG1
GoPubMedPLEKHG1
iHOPPLEKHG1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 14:24:12 CEST 2018

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