Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PLEKHO1 (pleckstrin homology domain containing O1)

Identity

Alias_namespleckstrin homology domain containing
Alias_symbol (synonym)CKIP-1
OC120
Other aliasCKIP1
JBP
HGNC (Hugo) PLEKHO1
LocusID (NCBI) 51177
Atlas_Id 49933
Location 1q21.2  [Link to chromosome band 1q21]
Location_base_pair Starts at 150149434 and ends at 150160065 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)
SETDB1 (1q21.3) / PLEKHO1 (1q21.2)TMEM120B (12q24.31) / PLEKHO1 (1q21.2)VPS45 (1q21.2) / PLEKHO1 (1q21.2)
SETDB1 1q21.3 / PLEKHO1 1q21.2

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)PLEKHO1   24310
Cards
Entrez_Gene (NCBI)PLEKHO1  51177  pleckstrin homology domain containing O1
AliasesCKIP-1; CKIP1; JBP; OC120
GeneCards (Weizmann)PLEKHO1
Ensembl hg19 (Hinxton)ENSG00000023902 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000023902 [Gene_View]  chr1:150149434-150160065 [Contig_View]  PLEKHO1 [Vega]
ICGC DataPortalENSG00000023902
TCGA cBioPortalPLEKHO1
AceView (NCBI)PLEKHO1
Genatlas (Paris)PLEKHO1
WikiGenes51177
SOURCE (Princeton)PLEKHO1
Genetics Home Reference (NIH)PLEKHO1
Genomic and cartography
GoldenPath hg38 (UCSC)PLEKHO1  -     chr1:150149434-150160065 +  1q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEKHO1  -     1q21.2   [Description]    (hg19-Feb_2009)
EnsemblPLEKHO1 - 1q21.2 [CytoView hg19]  PLEKHO1 - 1q21.2 [CytoView hg38]
Mapping of homologs : NCBIPLEKHO1 [Mapview hg19]  PLEKHO1 [Mapview hg38]
OMIM608335   
Gene and transcription
Genbank (Entrez)AF073836 AF168676 AF192912 AF217956 AF291105
RefSeq transcript (Entrez)NM_001304722 NM_001304723 NM_001304724 NM_016274
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLEKHO1
Cluster EST : UnigeneHs.438824 [ NCBI ]
CGAP (NCI)Hs.438824
Alternative Splicing GalleryENSG00000023902
Gene ExpressionPLEKHO1 [ NCBI-GEO ]   PLEKHO1 [ EBI - ARRAY_EXPRESS ]   PLEKHO1 [ SEEK ]   PLEKHO1 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHO1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51177
GTEX Portal (Tissue expression)PLEKHO1
Human Protein AtlasENSG00000023902-PLEKHO1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ53GL0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ53GL0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ53GL0
Splice isoforms : SwissVarQ53GL0
PhosPhoSitePlusQ53GL0
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)CKIP-1    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)PLEKHO1
DMDM Disease mutations51177
Blocks (Seattle)PLEKHO1
PDB (SRS)3AA1   
PDB (PDBSum)3AA1   
PDB (IMB)3AA1   
PDB (RSDB)3AA1   
Structural Biology KnowledgeBase3AA1   
SCOP (Structural Classification of Proteins)3AA1   
CATH (Classification of proteins structures)3AA1   
SuperfamilyQ53GL0
Human Protein Atlas [tissue]ENSG00000023902-PLEKHO1 [tissue]
Peptide AtlasQ53GL0
HPRD12217
IPIIPI00844034   IPI00016877   IPI00514762   
Protein Interaction databases
DIP (DOE-UCLA)Q53GL0
IntAct (EBI)Q53GL0
FunCoupENSG00000023902
BioGRIDPLEKHO1
STRING (EMBL)PLEKHO1
ZODIACPLEKHO1
Ontologies - Pathways
QuickGOQ53GL0
Ontology : AmiGOprotein binding  nucleus  cytoplasm  myoblast fusion  regulation of cell shape  ruffle membrane  muscle cell projection membrane  myoblast migration  lamellipodium morphogenesis  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  myoblast fusion  regulation of cell shape  ruffle membrane  muscle cell projection membrane  myoblast migration  lamellipodium morphogenesis  
NDEx NetworkPLEKHO1
Atlas of Cancer Signalling NetworkPLEKHO1
Wikipedia pathwaysPLEKHO1
Orthology - Evolution
OrthoDB51177
GeneTree (enSembl)ENSG00000023902
Phylogenetic Trees/Animal Genes : TreeFamPLEKHO1
HOVERGENQ53GL0
HOGENOMQ53GL0
Homologs : HomoloGenePLEKHO1
Homology/Alignments : Family Browser (UCSC)PLEKHO1
Gene fusions - Rearrangements
Fusion : MitelmanSETDB1/PLEKHO1 [1q21.3/1q21.2]  [t(1;1)(q21;q21)]  
Fusion: TCGA_MDACCSETDB1 1q21.3 PLEKHO1 1q21.2 LUAD
Tumor Fusion PortalPLEKHO1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHO1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHO1
dbVarPLEKHO1
ClinVarPLEKHO1
1000_GenomesPLEKHO1 
Exome Variant ServerPLEKHO1
ExAC (Exome Aggregation Consortium)ENSG00000023902
GNOMAD BrowserENSG00000023902
Genetic variants : HAPMAP51177
Genomic Variants (DGV)PLEKHO1 [DGVbeta]
DECIPHERPLEKHO1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLEKHO1 
Mutations
ICGC Data PortalPLEKHO1 
TCGA Data PortalPLEKHO1 
Broad Tumor PortalPLEKHO1
OASIS PortalPLEKHO1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHO1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHO1
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 PLEKHO1
DgiDB (Drug Gene Interaction Database)PLEKHO1
DoCM (Curated mutations)PLEKHO1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHO1 (select a term)
intoGenPLEKHO1
Cancer3DPLEKHO1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608335   
Orphanet
DisGeNETPLEKHO1
MedgenPLEKHO1
Genetic Testing Registry PLEKHO1
NextProtQ53GL0 [Medical]
TSGene51177
GENETestsPLEKHO1
Target ValidationPLEKHO1
Huge Navigator PLEKHO1 [HugePedia]
snp3D : Map Gene to Disease51177
BioCentury BCIQPLEKHO1
ClinGenPLEKHO1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51177
Chemical/Pharm GKB GenePA142671167
Clinical trialPLEKHO1
Miscellaneous
canSAR (ICR)PLEKHO1 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHO1
EVEXPLEKHO1
GoPubMedPLEKHO1
iHOPPLEKHO1
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 Nov 21 14:29:11 CET 2017

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