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PLCE1 (phospholipase C epsilon 1)

Identity

Alias_namesphospholipase C
Alias_symbol (synonym)KIAA1516
PLCE
NPHS3
Other aliasPPLC
HGNC (Hugo) PLCE1
LocusID (NCBI) 51196
Atlas_Id 43412
Location 10q23.33  [Link to chromosome band 10q23]
Location_base_pair Starts at 95848783 and ends at 96088148 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PLCE1 (10q23.33) / CYP2C19 (10q23.33)PLCE1 (10q23.33) / NEBL (10p12.31)PLCE1 (10q23.33) / PLCE1 (10q23.33)

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)PLCE1   17175
Cards
Entrez_Gene (NCBI)PLCE1  51196  phospholipase C epsilon 1
AliasesNPHS3; PLCE; PPLC
GeneCards (Weizmann)PLCE1
Ensembl hg19 (Hinxton)ENSG00000138193 [Gene_View]  chr10:95848783-96088148 [Contig_View]  PLCE1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000138193 [Gene_View]  chr10:95848783-96088148 [Contig_View]  PLCE1 [Vega]
ICGC DataPortalENSG00000138193
TCGA cBioPortalPLCE1
AceView (NCBI)PLCE1
Genatlas (Paris)PLCE1
WikiGenes51196
SOURCE (Princeton)PLCE1
Genetics Home Reference (NIH)PLCE1
Genomic and cartography
GoldenPath hg19 (UCSC)PLCE1  -     chr10:95848783-96088148 +  10q23.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PLCE1  -     10q23.33   [Description]    (hg38-Dec_2013)
EnsemblPLCE1 - 10q23.33 [CytoView hg19]  PLCE1 - 10q23.33 [CytoView hg38]
Mapping of homologs : NCBIPLCE1 [Mapview hg19]  PLCE1 [Mapview hg38]
OMIM608414   610725   
Gene and transcription
Genbank (Entrez)AB040949 AF117948 AF170071 AF190642 AK022543
RefSeq transcript (Entrez)NM_001165979 NM_001288989 NM_016341
RefSeq genomic (Entrez)NC_000010 NC_018921 NG_015799 NT_030059 NW_004929376
Consensus coding sequences : CCDS (NCBI)PLCE1
Cluster EST : UnigeneHs.655033 [ NCBI ]
CGAP (NCI)Hs.655033
Alternative Splicing GalleryENSG00000138193
Gene ExpressionPLCE1 [ NCBI-GEO ]   PLCE1 [ EBI - ARRAY_EXPRESS ]   PLCE1 [ SEEK ]   PLCE1 [ MEM ]
Gene Expression Viewer (FireBrowse)PLCE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51196
GTEX Portal (Tissue expression)PLCE1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P212   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P212  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P212
Splice isoforms : SwissVarQ9P212
Catalytic activity : Enzyme3.1.4.11 [ Enzyme-Expasy ]   3.1.4.113.1.4.11 [ IntEnz-EBI ]   3.1.4.11 [ BRENDA ]   3.1.4.11 [ KEGG ]   
PhosPhoSitePlusQ9P212
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    PIPLC_X_DOMAIN (PS50007)    PIPLC_Y_DOMAIN (PS50008)    RA (PS50200)    RASGEF_CAT (PS50009)   
Domains : Interpro (EBI)C2_dom    EF-hand-dom_pair    PI-PLC_fam    PLC-epsilon1    PLC-like_Pdiesterase_TIM-brl    PLC_EF-hand-like    PLipase_C_PInositol-sp_X_dom    PLipase_C_Pinositol-sp_Y    RA_dom    Ras_GEF_dom    RASGEF_cat_dom    Ubiquitin-rel_dom   
Domain families : Pfam (Sanger)C2 (PF00168)    EF-hand_like (PF09279)    PI-PLC-X (PF00388)    PI-PLC-Y (PF00387)    RA (PF00788)    RasGEF (PF00617)   
Domain families : Pfam (NCBI)pfam00168    pfam09279    pfam00388    pfam00387    pfam00788    pfam00617   
Domain families : Smart (EMBL)C2 (SM00239)  PLCXc (SM00148)  PLCYc (SM00149)  RA (SM00314)  RasGEF (SM00147)  
Conserved Domain (NCBI)PLCE1
DMDM Disease mutations51196
Blocks (Seattle)PLCE1
PDB (SRS)2BYE    2BYF    2C5L   
PDB (PDBSum)2BYE    2BYF    2C5L   
PDB (IMB)2BYE    2BYF    2C5L   
PDB (RSDB)2BYE    2BYF    2C5L   
Structural Biology KnowledgeBase2BYE    2BYF    2C5L   
SCOP (Structural Classification of Proteins)2BYE    2BYF    2C5L   
CATH (Classification of proteins structures)2BYE    2BYF    2C5L   
SuperfamilyQ9P212
Human Protein AtlasENSG00000138193
Peptide AtlasQ9P212
HPRD07087
IPIIPI00791109   IPI00010604   
Protein Interaction databases
DIP (DOE-UCLA)Q9P212
IntAct (EBI)Q9P212
FunCoupENSG00000138193
BioGRIDPLCE1
STRING (EMBL)PLCE1
ZODIACPLCE1
Ontologies - Pathways
QuickGOQ9P212
Ontology : AmiGOGolgi membrane  activation of MAPK activity  regulation of cell growth  phosphatidylinositol phospholipase C activity  phosphatidylinositol phospholipase C activity  phospholipase C activity  receptor signaling protein activity  guanyl-nucleotide exchange factor activity  protein binding  cytoplasm  cytosol  plasma membrane  plasma membrane  phospholipid metabolic process  diacylglycerol biosynthetic process  regulation of smooth muscle contraction  cytoskeleton organization  epidermal growth factor receptor signaling pathway  phospholipase C-activating G-protein coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  protein kinase C-activating G-protein coupled receptor signaling pathway  Ras protein signal transduction  heart development  regulation of G-protein coupled receptor protein signaling pathway  cell proliferation  lipid catabolic process  Ras GTPase binding  calcium-mediated signaling  calcium-mediated signaling  enzyme binding  glomerulus development  positive regulation of GTPase activity  positive regulation of GTPase activity  inositol phosphate metabolic process  regulation of protein kinase activity  regulation of Ras protein signal transduction  inositol phosphate-mediated signaling  
Ontology : EGO-EBIGolgi membrane  activation of MAPK activity  regulation of cell growth  phosphatidylinositol phospholipase C activity  phosphatidylinositol phospholipase C activity  phospholipase C activity  receptor signaling protein activity  guanyl-nucleotide exchange factor activity  protein binding  cytoplasm  cytosol  plasma membrane  plasma membrane  phospholipid metabolic process  diacylglycerol biosynthetic process  regulation of smooth muscle contraction  cytoskeleton organization  epidermal growth factor receptor signaling pathway  phospholipase C-activating G-protein coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  protein kinase C-activating G-protein coupled receptor signaling pathway  Ras protein signal transduction  heart development  regulation of G-protein coupled receptor protein signaling pathway  cell proliferation  lipid catabolic process  Ras GTPase binding  calcium-mediated signaling  calcium-mediated signaling  enzyme binding  glomerulus development  positive regulation of GTPase activity  positive regulation of GTPase activity  inositol phosphate metabolic process  regulation of protein kinase activity  regulation of Ras protein signal transduction  inositol phosphate-mediated signaling  
Pathways : BIOCARTAPhospholipase C-epsilon pathway [Genes]   
Pathways : KEGGInositol phosphate metabolism    Ras signaling pathway    Rap1 signaling pathway    Calcium signaling pathway    Phosphatidylinositol signaling system    Thyroid hormone signaling pathway    Proteoglycans in cancer   
NDEx NetworkPLCE1
Atlas of Cancer Signalling NetworkPLCE1
Wikipedia pathwaysPLCE1
Orthology - Evolution
OrthoDB51196
GeneTree (enSembl)ENSG00000138193
Phylogenetic Trees/Animal Genes : TreeFamPLCE1
HOVERGENQ9P212
HOGENOMQ9P212
Homologs : HomoloGenePLCE1
Homology/Alignments : Family Browser (UCSC)PLCE1
Gene fusions - Rearrangements
Fusion : MitelmanPLCE1/CYP2C19 [10q23.33/10q23.33]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLCE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLCE1
dbVarPLCE1
ClinVarPLCE1
1000_GenomesPLCE1 
Exome Variant ServerPLCE1
ExAC (Exome Aggregation Consortium)PLCE1 (select the gene name)
Genetic variants : HAPMAP51196
Genomic Variants (DGV)PLCE1 [DGVbeta]
DECIPHER (Syndromes)10:95848783-96088148  ENSG00000138193
CONAN: Copy Number AnalysisPLCE1 
Mutations
ICGC Data PortalPLCE1 
TCGA Data PortalPLCE1 
Broad Tumor PortalPLCE1
OASIS PortalPLCE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLCE1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLCE1
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 PLCE1
DgiDB (Drug Gene Interaction Database)PLCE1
DoCM (Curated mutations)PLCE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLCE1 (select a term)
intoGenPLCE1
Cancer3DPLCE1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608414    610725   
Orphanet12196    12194    12191   
MedgenPLCE1
Genetic Testing Registry PLCE1
NextProtQ9P212 [Medical]
TSGene51196
GENETestsPLCE1
Huge Navigator PLCE1 [HugePedia]
snp3D : Map Gene to Disease51196
BioCentury BCIQPLCE1
ClinGenPLCE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51196
Chemical/Pharm GKB GenePA33391
Clinical trialPLCE1
Miscellaneous
canSAR (ICR)PLCE1 (select the gene name)
Probes
Litterature
PubMed114 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLCE1
EVEXPLCE1
GoPubMedPLCE1
iHOPPLCE1
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 13:21:42 CET 2017

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