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PLEKHA8 (pleckstrin homology domain containing A8)

Identity

Alias_namespleckstrin homology domain containing
Alias_symbol (synonym)FAPP2
MGC3358
Other alias
HGNC (Hugo) PLEKHA8
LocusID (NCBI) 84725
Atlas_Id 47128
Location 7p14.3  [Link to chromosome band 7p14]
Location_base_pair Starts at 30067977 and ends at 30124278 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MTURN (7p14.3) / PLEKHA8 (7p14.3)C7orf41 PLEKHA8 7p14.3

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)PLEKHA8   30037
Cards
Entrez_Gene (NCBI)PLEKHA8  84725  pleckstrin homology domain containing A8
AliasesFAPP2
GeneCards (Weizmann)PLEKHA8
Ensembl hg19 (Hinxton)ENSG00000106086 [Gene_View]  chr7:30067977-30124278 [Contig_View]  PLEKHA8 [Vega]
Ensembl hg38 (Hinxton)ENSG00000106086 [Gene_View]  chr7:30067977-30124278 [Contig_View]  PLEKHA8 [Vega]
ICGC DataPortalENSG00000106086
TCGA cBioPortalPLEKHA8
AceView (NCBI)PLEKHA8
Genatlas (Paris)PLEKHA8
WikiGenes84725
SOURCE (Princeton)PLEKHA8
Genetics Home Reference (NIH)PLEKHA8
Genomic and cartography
GoldenPath hg19 (UCSC)PLEKHA8  -     chr7:30067977-30124278 +  7p14.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PLEKHA8  -     7p14.3   [Description]    (hg38-Dec_2013)
EnsemblPLEKHA8 - 7p14.3 [CytoView hg19]  PLEKHA8 - 7p14.3 [CytoView hg38]
Mapping of homologs : NCBIPLEKHA8 [Mapview hg19]  PLEKHA8 [Mapview hg38]
OMIM608639   
Gene and transcription
Genbank (Entrez)AB073667 AF308300 AI168153 AI954066 AK023180
RefSeq transcript (Entrez)NM_001197026 NM_001197027 NM_032639
RefSeq genomic (Entrez)NC_000007 NC_018918 NT_007819 NW_004929329
Consensus coding sequences : CCDS (NCBI)PLEKHA8
Cluster EST : UnigeneHs.734170 [ NCBI ]
CGAP (NCI)Hs.734170
Alternative Splicing GalleryENSG00000106086
Gene ExpressionPLEKHA8 [ NCBI-GEO ]   PLEKHA8 [ EBI - ARRAY_EXPRESS ]   PLEKHA8 [ SEEK ]   PLEKHA8 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHA8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84725
GTEX Portal (Tissue expression)PLEKHA8
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96JA3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96JA3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96JA3
Splice isoforms : SwissVarQ96JA3
PhosPhoSitePlusQ96JA3
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)Glycolipid_transfer_prot_dom    PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)GLTP (PF08718)    PH (PF00169)   
Domain families : Pfam (NCBI)pfam08718    pfam00169   
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)PLEKHA8
DMDM Disease mutations84725
Blocks (Seattle)PLEKHA8
SuperfamilyQ96JA3
Human Protein AtlasENSG00000106086
Peptide AtlasQ96JA3
HPRD10555
IPIIPI00867525   IPI00396549   IPI00910080   IPI00101877   IPI00477907   IPI00917206   
Protein Interaction databases
DIP (DOE-UCLA)Q96JA3
IntAct (EBI)Q96JA3
FunCoupENSG00000106086
BioGRIDPLEKHA8
STRING (EMBL)PLEKHA8
ZODIACPLEKHA8
Ontologies - Pathways
QuickGOQ96JA3
Ontology : AmiGOtrans-Golgi network  lipid transport  protein transport  membrane  glycolipid transporter activity  ER to Golgi ceramide transport  glycolipid transport  glycolipid binding  phosphatidylinositol-4-phosphate binding  ceramide binding  
Ontology : EGO-EBItrans-Golgi network  lipid transport  protein transport  membrane  glycolipid transporter activity  ER to Golgi ceramide transport  glycolipid transport  glycolipid binding  phosphatidylinositol-4-phosphate binding  ceramide binding  
NDEx NetworkPLEKHA8
Atlas of Cancer Signalling NetworkPLEKHA8
Wikipedia pathwaysPLEKHA8
Orthology - Evolution
OrthoDB84725
GeneTree (enSembl)ENSG00000106086
Phylogenetic Trees/Animal Genes : TreeFamPLEKHA8
HOVERGENQ96JA3
HOGENOMQ96JA3
Homologs : HomoloGenePLEKHA8
Homology/Alignments : Family Browser (UCSC)PLEKHA8
Gene fusions - Rearrangements
Fusion : MitelmanMTURN/PLEKHA8 [7p14.3/7p14.3]  [t(7;7)(p14;p14)]  
Fusion: TCGAC7orf41 PLEKHA8 7p14.3 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHA8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHA8
dbVarPLEKHA8
ClinVarPLEKHA8
1000_GenomesPLEKHA8 
Exome Variant ServerPLEKHA8
ExAC (Exome Aggregation Consortium)PLEKHA8 (select the gene name)
Genetic variants : HAPMAP84725
Genomic Variants (DGV)PLEKHA8 [DGVbeta]
DECIPHER (Syndromes)7:30067977-30124278  ENSG00000106086
CONAN: Copy Number AnalysisPLEKHA8 
Mutations
ICGC Data PortalPLEKHA8 
TCGA Data PortalPLEKHA8 
Broad Tumor PortalPLEKHA8
OASIS PortalPLEKHA8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHA8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHA8
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PLEKHA8
DgiDB (Drug Gene Interaction Database)PLEKHA8
DoCM (Curated mutations)PLEKHA8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHA8 (select a term)
intoGenPLEKHA8
Cancer3DPLEKHA8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608639   
Orphanet
MedgenPLEKHA8
Genetic Testing Registry PLEKHA8
NextProtQ96JA3 [Medical]
TSGene84725
GENETestsPLEKHA8
Huge Navigator PLEKHA8 [HugePedia]
snp3D : Map Gene to Disease84725
BioCentury BCIQPLEKHA8
ClinGenPLEKHA8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84725
Chemical/Pharm GKB GenePA134926954
Clinical trialPLEKHA8
Miscellaneous
canSAR (ICR)PLEKHA8 (select the gene name)
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHA8
EVEXPLEKHA8
GoPubMedPLEKHA8
iHOPPLEKHA8
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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