Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PLEKHG4 (pleckstrin homology and RhoGEF domain containing G4)

Identity

Alias_namesSCA4
spinocerebellar ataxia 4
pleckstrin homology domain containing, family G (with RhoGef domain) member 4
Alias_symbol (synonym)DKFZP434I216
ARHGEF44
Other aliasPRTPHN1
HGNC (Hugo) PLEKHG4
LocusID (NCBI) 25894
Atlas_Id 55218
Location 16q22.1  [Link to chromosome band 16q22]
Location_base_pair Starts at 67312060 and ends at 67323403 bp from pter ( according to hg19-Feb_2009)

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)PLEKHG4   24501
Cards
Entrez_Gene (NCBI)PLEKHG4  25894  pleckstrin homology and RhoGEF domain containing G4
AliasesARHGEF44; PRTPHN1; SCA4
GeneCards (Weizmann)PLEKHG4
Ensembl hg19 (Hinxton)ENSG00000196155 [Gene_View]  chr16:67312060-67323403 [Contig_View]  PLEKHG4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000196155 [Gene_View]  chr16:67312060-67323403 [Contig_View]  PLEKHG4 [Vega]
ICGC DataPortalENSG00000196155
TCGA cBioPortalPLEKHG4
AceView (NCBI)PLEKHG4
Genatlas (Paris)PLEKHG4
WikiGenes25894
SOURCE (Princeton)PLEKHG4
Genetics Home Reference (NIH)PLEKHG4
Genomic and cartography
GoldenPath hg19 (UCSC)PLEKHG4  -     chr16:67312060-67323403 +  16q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PLEKHG4  -     16q22.1   [Description]    (hg38-Dec_2013)
EnsemblPLEKHG4 - 16q22.1 [CytoView hg19]  PLEKHG4 - 16q22.1 [CytoView hg38]
Mapping of homologs : NCBIPLEKHG4 [Mapview hg19]  PLEKHG4 [Mapview hg38]
OMIM609526   
Gene and transcription
Genbank (Entrez)AB197663 AB197664 AK024475 AK304723 AK308298
RefSeq transcript (Entrez)NM_001129727 NM_001129728 NM_001129729 NM_001129731 NM_015432
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_008439 NT_010498 NW_004929402
Consensus coding sequences : CCDS (NCBI)PLEKHG4
Cluster EST : UnigeneHs.188781 [ NCBI ]
CGAP (NCI)Hs.188781
Alternative Splicing GalleryENSG00000196155
Gene ExpressionPLEKHG4 [ NCBI-GEO ]   PLEKHG4 [ EBI - ARRAY_EXPRESS ]   PLEKHG4 [ SEEK ]   PLEKHG4 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHG4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25894
GTEX Portal (Tissue expression)PLEKHG4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ58EX7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ58EX7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ58EX7
Splice isoforms : SwissVarQ58EX7
PhosPhoSitePlusQ58EX7
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)CRAL-TRIO_dom    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)PLEKHG4
DMDM Disease mutations25894
Blocks (Seattle)PLEKHG4
SuperfamilyQ58EX7
Human Protein AtlasENSG00000196155
Peptide AtlasQ58EX7
HPRD10890
IPIIPI00025442   IPI00646992   IPI00646157   
Protein Interaction databases
DIP (DOE-UCLA)Q58EX7
IntAct (EBI)Q58EX7
FunCoupENSG00000196155
BioGRIDPLEKHG4
STRING (EMBL)PLEKHG4
ZODIACPLEKHG4
Ontologies - Pathways
QuickGOQ58EX7
Ontology : AmiGORho guanyl-nucleotide exchange factor activity  protein binding  regulation of Rho protein signal transduction  activation of GTPase activity  
Ontology : EGO-EBIRho guanyl-nucleotide exchange factor activity  protein binding  regulation of Rho protein signal transduction  activation of GTPase activity  
NDEx NetworkPLEKHG4
Atlas of Cancer Signalling NetworkPLEKHG4
Wikipedia pathwaysPLEKHG4
Orthology - Evolution
OrthoDB25894
GeneTree (enSembl)ENSG00000196155
Phylogenetic Trees/Animal Genes : TreeFamPLEKHG4
HOVERGENQ58EX7
HOGENOMQ58EX7
Homologs : HomoloGenePLEKHG4
Homology/Alignments : Family Browser (UCSC)PLEKHG4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHG4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHG4
dbVarPLEKHG4
ClinVarPLEKHG4
1000_GenomesPLEKHG4 
Exome Variant ServerPLEKHG4
ExAC (Exome Aggregation Consortium)PLEKHG4 (select the gene name)
Genetic variants : HAPMAP25894
Genomic Variants (DGV)PLEKHG4 [DGVbeta]
DECIPHER (Syndromes)16:67312060-67323403  ENSG00000196155
CONAN: Copy Number AnalysisPLEKHG4 
Mutations
ICGC Data PortalPLEKHG4 
TCGA Data PortalPLEKHG4 
Broad Tumor PortalPLEKHG4
OASIS PortalPLEKHG4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHG4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHG4
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 PLEKHG4
DgiDB (Drug Gene Interaction Database)PLEKHG4
DoCM (Curated mutations)PLEKHG4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHG4 (select a term)
intoGenPLEKHG4
Cancer3DPLEKHG4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609526   
Orphanet13782   
MedgenPLEKHG4
Genetic Testing Registry PLEKHG4
NextProtQ58EX7 [Medical]
TSGene25894
GENETestsPLEKHG4
Huge Navigator PLEKHG4 [HugePedia]
snp3D : Map Gene to Disease25894
BioCentury BCIQPLEKHG4
ClinGenPLEKHG4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25894
Chemical/Pharm GKB GenePA142671163
Clinical trialPLEKHG4
Miscellaneous
canSAR (ICR)PLEKHG4 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHG4
EVEXPLEKHG4
GoPubMedPLEKHG4
iHOPPLEKHG4
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 : Tue Mar 14 13:21:47 CET 2017

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