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CEL (carboxyl ester lipase)

Identity

Alias_symbol (synonym)BSSL
MODY8
Other aliasBAL
BSDL
CELL
CEase
FAP
FAPP
LIPA
HGNC (Hugo) CEL
LocusID (NCBI) 1056
Atlas_Id 40052
Location 9q34.13  [Link to chromosome band 9q34]
Location_base_pair Starts at 133061978 and ends at 133071863 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)
PCYOX1 (2p13.3) / CEL (9q34.2)TSC1 (9q34.13) / CEL (9q34.2)TSC1 9q34.13 / CEL 9q34.2

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  TSC1/CEL (9q34)

External links

Nomenclature
HGNC (Hugo)CEL   1848
Cards
Entrez_Gene (NCBI)CEL  1056  carboxyl ester lipase
AliasesBAL; BSDL; BSSL; CELL; 
CEase; FAP; FAPP; LIPA; MODY8
GeneCards (Weizmann)CEL
Ensembl hg19 (Hinxton)ENSG00000170835 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170835 [Gene_View]  ENSG00000170835 [Sequence]  chr9:133061978-133071863 [Contig_View]  CEL [Vega]
ICGC DataPortalENSG00000170835
TCGA cBioPortalCEL
AceView (NCBI)CEL
Genatlas (Paris)CEL
WikiGenes1056
SOURCE (Princeton)CEL
Genetics Home Reference (NIH)CEL
Genomic and cartography
GoldenPath hg38 (UCSC)CEL  -     chr9:133061978-133071863 +  9q34.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CEL  -     9q34.13   [Description]    (hg19-Feb_2009)
GoldenPathCEL - 9q34.13 [CytoView hg19]  CEL - 9q34.13 [CytoView hg38]
ImmunoBaseENSG00000170835
Mapping of homologs : NCBICEL [Mapview hg19]  CEL [Mapview hg38]
OMIM114840   609812   
Gene and transcription
Genbank (Entrez)AF081673 AH004537 AK299965 BC042510 BE045879
RefSeq transcript (Entrez)NM_001807
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CEL
Cluster EST : UnigeneHs.533258 [ NCBI ]
CGAP (NCI)Hs.533258
Alternative Splicing GalleryENSG00000170835
Gene ExpressionCEL [ NCBI-GEO ]   CEL [ EBI - ARRAY_EXPRESS ]   CEL [ SEEK ]   CEL [ MEM ]
Gene Expression Viewer (FireBrowse)CEL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1056
GTEX Portal (Tissue expression)CEL
Human Protein AtlasENSG00000170835-CEL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP19835   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP19835  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP19835
Splice isoforms : SwissVarP19835
Catalytic activity : Enzyme3.1.1.3|3.1.1.13 [ Enzyme-Expasy ]   3.1.1.3|3.1.1.133.1.1.3|3.1.1.13 [ IntEnz-EBI ]   3.1.1.3|3.1.1.13 [ BRENDA ]   3.1.1.3|3.1.1.13 [ KEGG ]   
PhosPhoSitePlusP19835
Domaine pattern : Prosite (Expaxy)CARBOXYLESTERASE_B_1 (PS00122)    CARBOXYLESTERASE_B_2 (PS00941)   
Domains : Interpro (EBI)AB_hydrolase    BAL    CarbesteraseB    Carboxylesterase_B_AS    Carboxylesterase_B_CS    Mucin-like   
Domain families : Pfam (Sanger)COesterase (PF00135)    Mucin-like (PF16058)   
Domain families : Pfam (NCBI)pfam00135    pfam16058   
Conserved Domain (NCBI)CEL
DMDM Disease mutations1056
Blocks (Seattle)CEL
PDB (RSDB)1F6W    1JMY   
PDB Europe1F6W    1JMY   
PDB (PDBSum)1F6W    1JMY   
PDB (IMB)1F6W    1JMY   
Structural Biology KnowledgeBase1F6W    1JMY   
SCOP (Structural Classification of Proteins)1F6W    1JMY   
CATH (Classification of proteins structures)1F6W    1JMY   
SuperfamilyP19835
Human Protein Atlas [tissue]ENSG00000170835-CEL [tissue]
Peptide AtlasP19835
HPRD07509
IPIIPI00218674   IPI00843810   IPI00099670   
Protein Interaction databases
DIP (DOE-UCLA)P19835
IntAct (EBI)P19835
FunCoupENSG00000170835
BioGRIDCEL
STRING (EMBL)CEL
ZODIACCEL
Ontologies - Pathways
QuickGOP19835
Ontology : AmiGOcatalytic activity  sterol esterase activity  sterol esterase activity  triglyceride lipase activity  triglyceride lipase activity  protein binding  extracellular region  extracellular space  cytoplasm  integral component of plasma membrane  lipid metabolic process  cholesterol catabolic process  cholesterol catabolic process  neuron cell-cell adhesion  heparin binding  fatty acid catabolic process  cell surface  hydrolase activity  protein esterification  pancreatic juice secretion  intestinal cholesterol absorption  signaling receptor activity  neurexin family protein binding  lipid digestion  intestinal lipid catabolic process  synapse  synaptic vesicle endocytosis  modulation of chemical synaptic transmission  extracellular exosome  postsynaptic membrane assembly  presynaptic membrane assembly  presynapse  
Ontology : EGO-EBIcatalytic activity  sterol esterase activity  sterol esterase activity  triglyceride lipase activity  triglyceride lipase activity  protein binding  extracellular region  extracellular space  cytoplasm  integral component of plasma membrane  lipid metabolic process  cholesterol catabolic process  cholesterol catabolic process  neuron cell-cell adhesion  heparin binding  fatty acid catabolic process  cell surface  hydrolase activity  protein esterification  pancreatic juice secretion  intestinal cholesterol absorption  signaling receptor activity  neurexin family protein binding  lipid digestion  intestinal lipid catabolic process  synapse  synaptic vesicle endocytosis  modulation of chemical synaptic transmission  extracellular exosome  postsynaptic membrane assembly  presynaptic membrane assembly  presynapse  
Pathways : KEGGSteroid biosynthesis    Glycerolipid metabolism    Pancreatic secretion    Fat digestion and absorption   
NDEx NetworkCEL
Atlas of Cancer Signalling NetworkCEL
Wikipedia pathwaysCEL
Orthology - Evolution
OrthoDB1056
GeneTree (enSembl)ENSG00000170835
Phylogenetic Trees/Animal Genes : TreeFamCEL
HOGENOMP19835
Homologs : HomoloGeneCEL
Homology/Alignments : Family Browser (UCSC)CEL
Gene fusions - Rearrangements
Fusion : MitelmanTSC1/CEL [9q34.13/9q34.2]  [t(9;9)(q34;q34)]  
Fusion PortalTSC1 9q34.13 CEL 9q34.2 PRAD
Fusion : QuiverCEL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCEL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CEL
dbVarCEL
ClinVarCEL
1000_GenomesCEL 
Exome Variant ServerCEL
ExAC (Exome Aggregation Consortium)ENSG00000170835
GNOMAD BrowserENSG00000170835
Varsome BrowserCEL
Genetic variants : HAPMAP1056
Genomic Variants (DGV)CEL [DGVbeta]
DECIPHERCEL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCEL 
Mutations
ICGC Data PortalCEL 
TCGA Data PortalCEL 
Broad Tumor PortalCEL
OASIS PortalCEL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCEL  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCEL
Mutations and Diseases : HGMDCEL
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CEL
DgiDB (Drug Gene Interaction Database)CEL
DoCM (Curated mutations)CEL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CEL (select a term)
intoGenCEL
Cancer3DCEL(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114840    609812   
Orphanet8028   
DisGeNETCEL
MedgenCEL
Genetic Testing Registry CEL
NextProtP19835 [Medical]
TSGene1056
GENETestsCEL
Target ValidationCEL
Huge Navigator CEL [HugePedia]
snp3D : Map Gene to Disease1056
BioCentury BCIQCEL
ClinGenCEL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1056
Chemical/Pharm GKB GenePA26391
Clinical trialCEL
Miscellaneous
canSAR (ICR)CEL (select the gene name)
DataMed IndexCEL
Probes
Litterature
PubMed83 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCEL
EVEXCEL
GoPubMedCEL
iHOPCEL
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 : Wed Nov 13 17:36:47 CET 2019
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