Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PLEKHA1 (pleckstrin homology domain containing A1)

Identity

Alias (NCBI)TAPP1
HGNC (Hugo) PLEKHA1
HGNC Alias symbTAPP1
HGNC Alias nametandem PH domain containing protein-1
HGNC Previous namepleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1
 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
LocusID (NCBI) 59338
Atlas_Id 46694
Location 10q26.13  [Link to chromosome band 10q26]
Location_base_pair Starts at 122374708 and ends at 122442600 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)
PLEKHA1 (10q26.13) / FAM187B (19q13.12)THG1L (5q33.3) / PLEKHA1 (10q26.13)PLEKHA1 10q26.13 / FAM187B 19q13.12

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) [ 1 ]
  t(10;19)(q26;q13) PLEKHA1/FAM187B


External links

Nomenclature
HGNC (Hugo)PLEKHA1   14335
Cards
Entrez_Gene (NCBI)PLEKHA1  59338  pleckstrin homology domain containing A1
AliasesTAPP1
GeneCards (Weizmann)PLEKHA1
Ensembl hg19 (Hinxton)ENSG00000107679 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107679 [Gene_View]  ENSG00000107679 [Sequence]  chr10:122374708-122442600 [Contig_View]  PLEKHA1 [Vega]
ICGC DataPortalENSG00000107679
TCGA cBioPortalPLEKHA1
AceView (NCBI)PLEKHA1
Genatlas (Paris)PLEKHA1
WikiGenes59338
SOURCE (Princeton)PLEKHA1
Genetics Home Reference (NIH)PLEKHA1
Genomic and cartography
GoldenPath hg38 (UCSC)PLEKHA1  -     chr10:122374708-122442600 +  10q26.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEKHA1  -     10q26.13   [Description]    (hg19-Feb_2009)
GoldenPathPLEKHA1 - 10q26.13 [CytoView hg19]  PLEKHA1 - 10q26.13 [CytoView hg38]
ImmunoBaseENSG00000107679
genome Data Viewer NCBIPLEKHA1 [Mapview hg19]  
OMIM607772   
Gene and transcription
Genbank (Entrez)AB209407 AF286160 AK057463 AK075159 AK095775
RefSeq transcript (Entrez)NM_001001974 NM_001195608 NM_001330178 NM_001377230 NM_001377231 NM_001377232 NM_001377234 NM_001377235 NM_001377237 NM_001377238 NM_001377240 NM_001377241 NM_001377242 NM_001377243 NM_001377244 NM_001377245 NM_001377246 NM_001377247 NM_001377248 NM_001377249 NM_001377250 NM_001377251 NM_001377252 NM_001377253 NM_001377254 NM_001377255 NM_001377256 NM_001377257 NM_001377258 NM_021622
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLEKHA1
Alternative Splicing GalleryENSG00000107679
Gene ExpressionPLEKHA1 [ NCBI-GEO ]   PLEKHA1 [ EBI - ARRAY_EXPRESS ]   PLEKHA1 [ SEEK ]   PLEKHA1 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHA1 [ Firebrowse - Broad ]
GenevisibleExpression of PLEKHA1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)59338
GTEX Portal (Tissue expression)PLEKHA1
Human Protein AtlasENSG00000107679-PLEKHA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HB21   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HB21  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HB21
Splice isoforms : SwissVarQ9HB21
PhosPhoSitePlusQ9HB21
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)PH-like_dom_sf    PH_domain   
Domain families : Pfam (Sanger)PH (PF00169)   
Domain families : Pfam (NCBI)pfam00169   
Domain families : Smart (EMBL)PH (SM00233)  
Conserved Domain (NCBI)PLEKHA1
DMDM Disease mutations59338
Blocks (Seattle)PLEKHA1
PDB (RSDB)1EAZ   
PDB Europe1EAZ   
PDB (PDBSum)1EAZ   
PDB (IMB)1EAZ   
Structural Biology KnowledgeBase1EAZ   
SCOP (Structural Classification of Proteins)1EAZ   
CATH (Classification of proteins structures)1EAZ   
SuperfamilyQ9HB21
Human Protein Atlas [tissue]ENSG00000107679-PLEKHA1 [tissue]
Peptide AtlasQ9HB21
HPRD09686
IPIIPI00306354   IPI00555801   IPI00646101   IPI00644920   
Protein Interaction databases
DIP (DOE-UCLA)Q9HB21
IntAct (EBI)Q9HB21
FunCoupENSG00000107679
BioGRIDPLEKHA1
STRING (EMBL)PLEKHA1
ZODIACPLEKHA1
Ontologies - Pathways
QuickGOQ9HB21
Ontology : AmiGOluteinization  protein binding  nucleoplasm  cytoplasm  cytoplasm  cytosol  plasma membrane  plasma membrane  phosphatidylinositol biosynthetic process  spermatogenesis  androgen metabolic process  estrogen metabolic process  post-embryonic development  phosphatidylinositol 3-kinase signaling  membrane  PDZ domain binding  PDZ domain binding  ruffle organization  ruffle membrane  Leydig cell differentiation  multicellular organism growth  phosphatidylinositol-3,4-bisphosphate binding  establishment of protein localization  platelet-derived growth factor receptor signaling pathway  skeletal system morphogenesis  B cell receptor signaling pathway  negative regulation of protein kinase B signaling  roof of mouth development  face morphogenesis  extracellular exosome  cellular response to hydrogen peroxide  
Ontology : EGO-EBIluteinization  protein binding  nucleoplasm  cytoplasm  cytoplasm  cytosol  plasma membrane  plasma membrane  phosphatidylinositol biosynthetic process  spermatogenesis  androgen metabolic process  estrogen metabolic process  post-embryonic development  phosphatidylinositol 3-kinase signaling  membrane  PDZ domain binding  PDZ domain binding  ruffle organization  ruffle membrane  Leydig cell differentiation  multicellular organism growth  phosphatidylinositol-3,4-bisphosphate binding  establishment of protein localization  platelet-derived growth factor receptor signaling pathway  skeletal system morphogenesis  B cell receptor signaling pathway  negative regulation of protein kinase B signaling  roof of mouth development  face morphogenesis  extracellular exosome  cellular response to hydrogen peroxide  
NDEx NetworkPLEKHA1
Atlas of Cancer Signalling NetworkPLEKHA1
Wikipedia pathwaysPLEKHA1
Orthology - Evolution
OrthoDB59338
GeneTree (enSembl)ENSG00000107679
Phylogenetic Trees/Animal Genes : TreeFamPLEKHA1
HOGENOMQ9HB21
Homologs : HomoloGenePLEKHA1
Homology/Alignments : Family Browser (UCSC)PLEKHA1
Gene fusions - Rearrangements
Fusion : MitelmanPLEKHA1/FAM187B [10q26.13/19q13.12]  
Fusion PortalPLEKHA1 10q26.13 FAM187B 19q13.12 BRCA
Fusion : QuiverPLEKHA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHA1
dbVarPLEKHA1
ClinVarPLEKHA1
MonarchPLEKHA1
1000_GenomesPLEKHA1 
Exome Variant ServerPLEKHA1
GNOMAD BrowserENSG00000107679
Varsome BrowserPLEKHA1
Genetic variants : HAPMAP59338
Genomic Variants (DGV)PLEKHA1 [DGVbeta]
DECIPHERPLEKHA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLEKHA1 
Mutations
ICGC Data PortalPLEKHA1 
TCGA Data PortalPLEKHA1 
Broad Tumor PortalPLEKHA1
OASIS PortalPLEKHA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHA1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPLEKHA1
Mutations and Diseases : HGMDPLEKHA1
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 PLEKHA1
DgiDB (Drug Gene Interaction Database)PLEKHA1
DoCM (Curated mutations)PLEKHA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHA1 (select a term)
intoGenPLEKHA1
Cancer3DPLEKHA1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607772   
Orphanet
DisGeNETPLEKHA1
MedgenPLEKHA1
Genetic Testing Registry PLEKHA1
NextProtQ9HB21 [Medical]
TSGene59338
GENETestsPLEKHA1
Target ValidationPLEKHA1
Huge Navigator PLEKHA1 [HugePedia]
snp3D : Map Gene to Disease59338
BioCentury BCIQPLEKHA1
ClinGenPLEKHA1
Clinical trials, drugs, therapy
Protein Interactions : CTD59338
Pharm GKB GenePA33401
Clinical trialPLEKHA1
Miscellaneous
canSAR (ICR)PLEKHA1 (select the gene name)
HarmonizomePLEKHA1
DataMed IndexPLEKHA1
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHA1
EVEXPLEKHA1
GoPubMedPLEKHA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 14 14:27:07 CEST 2020

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