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PLEKHA7 (pleckstrin homology domain containing A7)

Identity

Alias_namespleckstrin homology domain containing
Alias_symbol (synonym)DKFZp686M22243
Other alias-
HGNC (Hugo) PLEKHA7
LocusID (NCBI) 144100
Atlas_Id 47399
Location 11p15.1  [Link to chromosome band 11p15]
Location_base_pair Starts at 16809207 and ends at 17035963 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BMS1 (10q11.21) / PLEKHA7 (11p15.1)FSTL5 (4q32.2) / PLEKHA7 (11p15.1)MATN2 (8q22.1) / PLEKHA7 (11p15.1)
PLEKHA7 (11p15.1) / ABCC8 (11p15.1)PLEKHA7 (11p15.1) / AP2A2 (11p15.5)PLEKHA7 (11p15.1) / DHX32 (10q26.2)
PLEKHA7 (11p15.1) / SERGEF (11p15.1)PLEKHA7 (11p15.1) / SMPD1 (11p15.4)SLC44A5 (1p31.1) / PLEKHA7 (11p15.1)
BMS1 10q11.21 / PLEKHA7 11p15.1PLEKHA7 11p15.1 / ABCC8 11p15.1PLEKHA7 11p15.1 / AP2A2 11p15.5
PLEKHA7 11p15.1 / SERGEF 11p15.1PLEKHA7 11p15.1 / SMPD1 11p15.4

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)PLEKHA7   27049
Cards
Entrez_Gene (NCBI)PLEKHA7  144100  pleckstrin homology domain containing A7
Aliases
GeneCards (Weizmann)PLEKHA7
Ensembl hg19 (Hinxton)ENSG00000166689 [Gene_View]  chr11:16809207-17035963 [Contig_View]  PLEKHA7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000166689 [Gene_View]  chr11:16809207-17035963 [Contig_View]  PLEKHA7 [Vega]
ICGC DataPortalENSG00000166689
TCGA cBioPortalPLEKHA7
AceView (NCBI)PLEKHA7
Genatlas (Paris)PLEKHA7
WikiGenes144100
SOURCE (Princeton)PLEKHA7
Genetics Home Reference (NIH)PLEKHA7
Genomic and cartography
GoldenPath hg19 (UCSC)PLEKHA7  -     chr11:16809207-17035963 -  11p15.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PLEKHA7  -     11p15.1   [Description]    (hg38-Dec_2013)
EnsemblPLEKHA7 - 11p15.1 [CytoView hg19]  PLEKHA7 - 11p15.1 [CytoView hg38]
Mapping of homologs : NCBIPLEKHA7 [Mapview hg19]  PLEKHA7 [Mapview hg38]
OMIM612686   
Gene and transcription
Genbank (Entrez)AK296371 AK301465 AW135567 BC032761 BC033239
RefSeq transcript (Entrez)NM_175058
RefSeq genomic (Entrez)NC_000011 NC_018922 NT_009237 NW_004929378
Consensus coding sequences : CCDS (NCBI)PLEKHA7
Cluster EST : UnigeneHs.733020 [ NCBI ]
CGAP (NCI)Hs.733020
Alternative Splicing GalleryENSG00000166689
Gene ExpressionPLEKHA7 [ NCBI-GEO ]   PLEKHA7 [ EBI - ARRAY_EXPRESS ]   PLEKHA7 [ SEEK ]   PLEKHA7 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHA7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)144100
GTEX Portal (Tissue expression)PLEKHA7
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6IQ23   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6IQ23  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6IQ23
Splice isoforms : SwissVarQ6IQ23
PhosPhoSitePlusQ6IQ23
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)PH_dom-like    PH_domain    WW_dom   
Domain families : Pfam (Sanger)PH (PF00169)   
Domain families : Pfam (NCBI)pfam00169   
Domain families : Smart (EMBL)PH (SM00233)  WW (SM00456)  
Conserved Domain (NCBI)PLEKHA7
DMDM Disease mutations144100
Blocks (Seattle)PLEKHA7
SuperfamilyQ6IQ23
Human Protein AtlasENSG00000166689
Peptide AtlasQ6IQ23
HPRD15142
IPIIPI00419933   IPI00969166   IPI00332837   IPI00976962   IPI00978782   IPI00978388   IPI00977540   
Protein Interaction databases
DIP (DOE-UCLA)Q6IQ23
IntAct (EBI)Q6IQ23
FunCoupENSG00000166689
BioGRIDPLEKHA7
STRING (EMBL)PLEKHA7
ZODIACPLEKHA7
Ontologies - Pathways
QuickGOQ6IQ23
Ontology : AmiGOnucleus  cytoplasm  centrosome  zonula adherens  cell junction  zonula adherens maintenance  extracellular exosome  delta-catenin binding  epithelial cell-cell adhesion  
Ontology : EGO-EBInucleus  cytoplasm  centrosome  zonula adherens  cell junction  zonula adherens maintenance  extracellular exosome  delta-catenin binding  epithelial cell-cell adhesion  
NDEx NetworkPLEKHA7
Atlas of Cancer Signalling NetworkPLEKHA7
Wikipedia pathwaysPLEKHA7
Orthology - Evolution
OrthoDB144100
GeneTree (enSembl)ENSG00000166689
Phylogenetic Trees/Animal Genes : TreeFamPLEKHA7
HOVERGENQ6IQ23
HOGENOMQ6IQ23
Homologs : HomoloGenePLEKHA7
Homology/Alignments : Family Browser (UCSC)PLEKHA7
Gene fusions - Rearrangements
Fusion : MitelmanBMS1/PLEKHA7 [10q11.21/11p15.1]  [t(10;11)(q11;p15)]  
Fusion : MitelmanPLEKHA7/ABCC8 [11p15.1/11p15.1]  [t(11;11)(p15;p15)]  
Fusion : MitelmanPLEKHA7/AP2A2 [11p15.1/11p15.5]  [t(11;11)(p15;p15)]  
Fusion : MitelmanPLEKHA7/SERGEF [11p15.1/11p15.1]  [t(11;11)(p15;p15)]  
Fusion : MitelmanPLEKHA7/SMPD1 [11p15.1/11p15.4]  [t(11;11)(p15;p15)]  
Fusion: TCGABMS1 10q11.21 PLEKHA7 11p15.1 BRCA
Fusion: TCGAPLEKHA7 11p15.1 ABCC8 11p15.1 LGG
Fusion: TCGAPLEKHA7 11p15.1 AP2A2 11p15.5 BRCA
Fusion: TCGAPLEKHA7 11p15.1 SERGEF 11p15.1 BLCA
Fusion: TCGAPLEKHA7 11p15.1 SMPD1 11p15.4 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHA7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHA7
dbVarPLEKHA7
ClinVarPLEKHA7
1000_GenomesPLEKHA7 
Exome Variant ServerPLEKHA7
ExAC (Exome Aggregation Consortium)PLEKHA7 (select the gene name)
Genetic variants : HAPMAP144100
Genomic Variants (DGV)PLEKHA7 [DGVbeta]
DECIPHER (Syndromes)11:16809207-17035963  ENSG00000166689
CONAN: Copy Number AnalysisPLEKHA7 
Mutations
ICGC Data PortalPLEKHA7 
TCGA Data PortalPLEKHA7 
Broad Tumor PortalPLEKHA7
OASIS PortalPLEKHA7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHA7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHA7
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 PLEKHA7
DgiDB (Drug Gene Interaction Database)PLEKHA7
DoCM (Curated mutations)PLEKHA7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHA7 (select a term)
intoGenPLEKHA7
Cancer3DPLEKHA7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612686   
Orphanet
MedgenPLEKHA7
Genetic Testing Registry PLEKHA7
NextProtQ6IQ23 [Medical]
TSGene144100
GENETestsPLEKHA7
Huge Navigator PLEKHA7 [HugePedia]
snp3D : Map Gene to Disease144100
BioCentury BCIQPLEKHA7
ClinGenPLEKHA7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD144100
Chemical/Pharm GKB GenePA134894945
Clinical trialPLEKHA7
Miscellaneous
canSAR (ICR)PLEKHA7 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHA7
EVEXPLEKHA7
GoPubMedPLEKHA7
iHOPPLEKHA7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:21:46 CET 2017

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