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PLEKHA6 (pleckstrin homology domain containing A6)

Identity

Alias_namespleckstrin homology domain containing
Alias_symbol (synonym)PEPP3
KIAA0969
Other aliasPEPP-3
HGNC (Hugo) PLEKHA6
LocusID (NCBI) 22874
Atlas_Id 47509
Location 1q32.1  [Link to chromosome band 1q32]
Location_base_pair Starts at 204187979 and ends at 204329057 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PLEKHA6 (1q32.1) / CNOT8 (5q33.2)PLEKHA6 (1q32.1) / CYP19A1 (15q21.2)PLEKHA6 (1q32.1) / DCAF5 (14q24.1)
PLEKHA6 (1q32.1) / DDX23 (12q13.12)PLEKHA6 (1q32.1) / PELI3 (11q13.2)PLEKHA6 (1q32.1) / PIK3C2B (1q32.1)
PLEKHA6 (1q32.1) / PLEKHA6 (1q32.1)PLEKHA6 (1q32.1) / SQSTM1 (5q35.3)PLEKHA6 (1q32.1) / TSNARE1 (8q24.3)
SHANK3 (22q13.33) / PLEKHA6 (1q32.1)SRBD1 (2p21) / PLEKHA6 (1q32.1)PLEKHA6 1q32.1 / DCAF5 14q24.1
SRBD1 2p21 / PLEKHA6 1q32.1

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)PLEKHA6   17053
Cards
Entrez_Gene (NCBI)PLEKHA6  22874  pleckstrin homology domain containing A6
AliasesPEPP-3; PEPP3
GeneCards (Weizmann)PLEKHA6
Ensembl hg19 (Hinxton)ENSG00000143850 [Gene_View]  chr1:204187979-204329057 [Contig_View]  PLEKHA6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000143850 [Gene_View]  chr1:204187979-204329057 [Contig_View]  PLEKHA6 [Vega]
ICGC DataPortalENSG00000143850
TCGA cBioPortalPLEKHA6
AceView (NCBI)PLEKHA6
Genatlas (Paris)PLEKHA6
WikiGenes22874
SOURCE (Princeton)PLEKHA6
Genetics Home Reference (NIH)PLEKHA6
Genomic and cartography
GoldenPath hg19 (UCSC)PLEKHA6  -     chr1:204187979-204329057 -  1q32.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PLEKHA6  -     1q32.1   [Description]    (hg38-Dec_2013)
EnsemblPLEKHA6 - 1q32.1 [CytoView hg19]  PLEKHA6 - 1q32.1 [CytoView hg38]
Mapping of homologs : NCBIPLEKHA6 [Mapview hg19]  PLEKHA6 [Mapview hg38]
OMIM607771   
Gene and transcription
Genbank (Entrez)AB023186 AK092454 AK096673 AK299780 AL571585
RefSeq transcript (Entrez)NM_014935 NM_138480
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)PLEKHA6
Cluster EST : UnigeneHs.253146 [ NCBI ]
CGAP (NCI)Hs.253146
Alternative Splicing GalleryENSG00000143850
Gene ExpressionPLEKHA6 [ NCBI-GEO ]   PLEKHA6 [ EBI - ARRAY_EXPRESS ]   PLEKHA6 [ SEEK ]   PLEKHA6 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHA6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22874
GTEX Portal (Tissue expression)PLEKHA6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2H5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2H5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2H5
Splice isoforms : SwissVarQ9Y2H5
PhosPhoSitePlusQ9Y2H5
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)PH (PF00169)   
Domain families : Pfam (NCBI)pfam00169   
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)PLEKHA6
DMDM Disease mutations22874
Blocks (Seattle)PLEKHA6
PDB (SRS)2D9Y    2YRY   
PDB (PDBSum)2D9Y    2YRY   
PDB (IMB)2D9Y    2YRY   
PDB (RSDB)2D9Y    2YRY   
Structural Biology KnowledgeBase2D9Y    2YRY   
SCOP (Structural Classification of Proteins)2D9Y    2YRY   
CATH (Classification of proteins structures)2D9Y    2YRY   
SuperfamilyQ9Y2H5
Human Protein AtlasENSG00000143850
Peptide AtlasQ9Y2H5
HPRD09685
IPIIPI00007248   IPI00852702   IPI01014709   IPI00853477   IPI01015205   IPI00853544   IPI01011980   IPI00062140   IPI00477104   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2H5
IntAct (EBI)Q9Y2H5
FunCoupENSG00000143850
BioGRIDPLEKHA6
STRING (EMBL)PLEKHA6
ZODIACPLEKHA6
Ontologies - Pathways
QuickGOQ9Y2H5
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkPLEKHA6
Atlas of Cancer Signalling NetworkPLEKHA6
Wikipedia pathwaysPLEKHA6
Orthology - Evolution
OrthoDB22874
GeneTree (enSembl)ENSG00000143850
Phylogenetic Trees/Animal Genes : TreeFamPLEKHA6
HOVERGENQ9Y2H5
HOGENOMQ9Y2H5
Homologs : HomoloGenePLEKHA6
Homology/Alignments : Family Browser (UCSC)PLEKHA6
Gene fusions - Rearrangements
Fusion : MitelmanPLEKHA6/DCAF5 [1q32.1/14q24.1]  
Fusion : MitelmanPLEKHA6/PIK3C2B [1q32.1/1q32.1]  [t(1;1)(q32;q32)]  
Fusion : MitelmanSRBD1/PLEKHA6 [2p21/1q32.1]  [t(1;2)(q32;p21)]  
Fusion: TCGAPLEKHA6 1q32.1 DCAF5 14q24.1 LGG
Fusion: TCGASRBD1 2p21 PLEKHA6 1q32.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHA6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHA6
dbVarPLEKHA6
ClinVarPLEKHA6
1000_GenomesPLEKHA6 
Exome Variant ServerPLEKHA6
ExAC (Exome Aggregation Consortium)PLEKHA6 (select the gene name)
Genetic variants : HAPMAP22874
Genomic Variants (DGV)PLEKHA6 [DGVbeta]
DECIPHER (Syndromes)1:204187979-204329057  ENSG00000143850
CONAN: Copy Number AnalysisPLEKHA6 
Mutations
ICGC Data PortalPLEKHA6 
TCGA Data PortalPLEKHA6 
Broad Tumor PortalPLEKHA6
OASIS PortalPLEKHA6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHA6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHA6
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 PLEKHA6
DgiDB (Drug Gene Interaction Database)PLEKHA6
DoCM (Curated mutations)PLEKHA6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHA6 (select a term)
intoGenPLEKHA6
Cancer3DPLEKHA6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607771   
Orphanet
MedgenPLEKHA6
Genetic Testing Registry PLEKHA6
NextProtQ9Y2H5 [Medical]
TSGene22874
GENETestsPLEKHA6
Huge Navigator PLEKHA6 [HugePedia]
snp3D : Map Gene to Disease22874
BioCentury BCIQPLEKHA6
ClinGenPLEKHA6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22874
Chemical/Pharm GKB GenePA134955964
Clinical trialPLEKHA6
Miscellaneous
canSAR (ICR)PLEKHA6 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHA6
EVEXPLEKHA6
GoPubMedPLEKHA6
iHOPPLEKHA6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:14:40 CEST 2017

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