Atlas of Genetics and Cytogenetics in Oncology and Haematology

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BCHE (butyrylcholinesterase)

Identity

Alias_namesCHE1
CHE2
cholinesterase 1
cholinesterase (serum) 2
Alias_symbol (synonym)E1
Other alias
HGNC (Hugo) BCHE
LocusID (NCBI) 590
Atlas_Id 769
Location 3q26.1  [Link to chromosome band 3q26]
Location_base_pair Starts at 165772903 and ends at 165837472 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)
BCHE (3q26.1) / SLC35E3 (12q15)IQCJ (3q25.32) / BCHE (3q26.1)

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) [ 2 ]
  Lung: Translocations in Squamous Cell Carcinoma
t(3;3)(q25;q26) IQCJ/BCHE

External links

Nomenclature
HGNC (Hugo)BCHE   983
Cards
Entrez_Gene (NCBI)BCHE  590  butyrylcholinesterase
AliasesCHE1; CHE2; E1
GeneCards (Weizmann)BCHE
Ensembl hg19 (Hinxton)ENSG00000114200 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000114200 [Gene_View]  chr3:165772903-165837472 [Contig_View]  BCHE [Vega]
ICGC DataPortalENSG00000114200
TCGA cBioPortalBCHE
AceView (NCBI)BCHE
Genatlas (Paris)BCHE
WikiGenes590
SOURCE (Princeton)BCHE
Genetics Home Reference (NIH)BCHE
Genomic and cartography
GoldenPath hg38 (UCSC)BCHE  -     chr3:165772903-165837472 -  3q26.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BCHE  -     3q26.1   [Description]    (hg19-Feb_2009)
EnsemblBCHE - 3q26.1 [CytoView hg19]  BCHE - 3q26.1 [CytoView hg38]
Mapping of homologs : NCBIBCHE [Mapview hg19]  BCHE [Mapview hg38]
OMIM177400   
Gene and transcription
Genbank (Entrez)AK292063 AL706210 BC008396 BC018141 BF056152
RefSeq transcript (Entrez)NM_000055
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BCHE
Cluster EST : UnigeneHs.420483 [ NCBI ]
CGAP (NCI)Hs.420483
Alternative Splicing GalleryENSG00000114200
Gene ExpressionBCHE [ NCBI-GEO ]   BCHE [ EBI - ARRAY_EXPRESS ]   BCHE [ SEEK ]   BCHE [ MEM ]
Gene Expression Viewer (FireBrowse)BCHE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)590
GTEX Portal (Tissue expression)BCHE
Human Protein AtlasENSG00000114200-BCHE [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP06276   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP06276  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP06276
Splice isoforms : SwissVarP06276
Catalytic activity : Enzyme3.1.1.8 [ Enzyme-Expasy ]   3.1.1.83.1.1.8 [ IntEnz-EBI ]   3.1.1.8 [ BRENDA ]   3.1.1.8 [ KEGG ]   
PhosPhoSitePlusP06276
Domaine pattern : Prosite (Expaxy)CARBOXYLESTERASE_B_1 (PS00122)    CARBOXYLESTERASE_B_2 (PS00941)   
Domains : Interpro (EBI)AB_hydrolase    AChE_tetra    CarbesteraseB    Carboxylesterase_B_AS    Carboxylesterase_B_CS    Cholinesterase   
Domain families : Pfam (Sanger)AChE_tetra (PF08674)    COesterase (PF00135)   
Domain families : Pfam (NCBI)pfam08674    pfam00135   
Domain structure : Prodom (Prabi Lyon)AChE_tetra (PD415333)   
Conserved Domain (NCBI)BCHE
DMDM Disease mutations590
Blocks (Seattle)BCHE
PDB (SRS)1EHO    1EHQ    1KCJ    1P0I    1P0M    1P0P    1P0Q    1XLU    1XLV    1XLW    2J4C    2PM8    2WID    2WIF    2WIG    2WIJ    2WIK    2WIL    2WSL    2XMB    2XMC    2XMD    2XMG    2XQF    2XQG    2XQI    2XQJ    2XQK    2Y1K    3DJY    3DKK    3O9M    4AQD    4AXB    4B0O    4B0P    4BBZ    4BDS    4TPK    4XII    5DYT    5DYW    5DYY    5K5E    5LKR   
PDB (PDBSum)1EHO    1EHQ    1KCJ    1P0I    1P0M    1P0P    1P0Q    1XLU    1XLV    1XLW    2J4C    2PM8    2WID    2WIF    2WIG    2WIJ    2WIK    2WIL    2WSL    2XMB    2XMC    2XMD    2XMG    2XQF    2XQG    2XQI    2XQJ    2XQK    2Y1K    3DJY    3DKK    3O9M    4AQD    4AXB    4B0O    4B0P    4BBZ    4BDS    4TPK    4XII    5DYT    5DYW    5DYY    5K5E    5LKR   
PDB (IMB)1EHO    1EHQ    1KCJ    1P0I    1P0M    1P0P    1P0Q    1XLU    1XLV    1XLW    2J4C    2PM8    2WID    2WIF    2WIG    2WIJ    2WIK    2WIL    2WSL    2XMB    2XMC    2XMD    2XMG    2XQF    2XQG    2XQI    2XQJ    2XQK    2Y1K    3DJY    3DKK    3O9M    4AQD    4AXB    4B0O    4B0P    4BBZ    4BDS    4TPK    4XII    5DYT    5DYW    5DYY    5K5E    5LKR   
PDB (RSDB)1EHO    1EHQ    1KCJ    1P0I    1P0M    1P0P    1P0Q    1XLU    1XLV    1XLW    2J4C    2PM8    2WID    2WIF    2WIG    2WIJ    2WIK    2WIL    2WSL    2XMB    2XMC    2XMD    2XMG    2XQF    2XQG    2XQI    2XQJ    2XQK    2Y1K    3DJY    3DKK    3O9M    4AQD    4AXB    4B0O    4B0P    4BBZ    4BDS    4TPK    4XII    5DYT    5DYW    5DYY    5K5E    5LKR   
Structural Biology KnowledgeBase1EHO    1EHQ    1KCJ    1P0I    1P0M    1P0P    1P0Q    1XLU    1XLV    1XLW    2J4C    2PM8    2WID    2WIF    2WIG    2WIJ    2WIK    2WIL    2WSL    2XMB    2XMC    2XMD    2XMG    2XQF    2XQG    2XQI    2XQJ    2XQK    2Y1K    3DJY    3DKK    3O9M    4AQD    4AXB    4B0O    4B0P    4BBZ    4BDS    4TPK    4XII    5DYT    5DYW    5DYY    5K5E    5LKR   
SCOP (Structural Classification of Proteins)1EHO    1EHQ    1KCJ    1P0I    1P0M    1P0P    1P0Q    1XLU    1XLV    1XLW    2J4C    2PM8    2WID    2WIF    2WIG    2WIJ    2WIK    2WIL    2WSL    2XMB    2XMC    2XMD    2XMG    2XQF    2XQG    2XQI    2XQJ    2XQK    2Y1K    3DJY    3DKK    3O9M    4AQD    4AXB    4B0O    4B0P    4BBZ    4BDS    4TPK    4XII    5DYT    5DYW    5DYY    5K5E    5LKR   
CATH (Classification of proteins structures)1EHO    1EHQ    1KCJ    1P0I    1P0M    1P0P    1P0Q    1XLU    1XLV    1XLW    2J4C    2PM8    2WID    2WIF    2WIG    2WIJ    2WIK    2WIL    2WSL    2XMB    2XMC    2XMD    2XMG    2XQF    2XQG    2XQI    2XQJ    2XQK    2Y1K    3DJY    3DKK    3O9M    4AQD    4AXB    4B0O    4B0P    4BBZ    4BDS    4TPK    4XII    5DYT    5DYW    5DYY    5K5E    5LKR   
SuperfamilyP06276
Human Protein Atlas [tissue]ENSG00000114200-BCHE [tissue]
Peptide AtlasP06276
HPRD01519
IPIIPI00025864   IPI00797309   IPI00946206   IPI00946310   IPI00945517   
Protein Interaction databases
DIP (DOE-UCLA)P06276
IntAct (EBI)P06276
FunCoupENSG00000114200
BioGRIDBCHE
STRING (EMBL)BCHE
ZODIACBCHE
Ontologies - Pathways
QuickGOP06276
Ontology : AmiGOamyloid-beta binding  catalytic activity  acetylcholinesterase activity  cholinesterase activity  extracellular region  extracellular region  nuclear envelope lumen  endoplasmic reticulum lumen  learning  negative regulation of cell proliferation  neuroblast differentiation  membrane  hydrolase activity, acting on ester bonds  choline metabolic process  enzyme binding  choline binding  identical protein binding  response to alkaloid  cocaine metabolic process  negative regulation of synaptic transmission  response to glucocorticoid  response to folic acid  blood microparticle  
Ontology : EGO-EBIamyloid-beta binding  catalytic activity  acetylcholinesterase activity  cholinesterase activity  extracellular region  extracellular region  nuclear envelope lumen  endoplasmic reticulum lumen  learning  negative regulation of cell proliferation  neuroblast differentiation  membrane  hydrolase activity, acting on ester bonds  choline metabolic process  enzyme binding  choline binding  identical protein binding  response to alkaloid  cocaine metabolic process  negative regulation of synaptic transmission  response to glucocorticoid  response to folic acid  blood microparticle  
NDEx NetworkBCHE
Atlas of Cancer Signalling NetworkBCHE
Wikipedia pathwaysBCHE
Orthology - Evolution
OrthoDB590
GeneTree (enSembl)ENSG00000114200
Phylogenetic Trees/Animal Genes : TreeFamBCHE
HOVERGENP06276
HOGENOMP06276
Homologs : HomoloGeneBCHE
Homology/Alignments : Family Browser (UCSC)BCHE
Gene fusions - Rearrangements
Fusion : MitelmanIQCJ/BCHE [3q25.32/3q26.1]  [t(3;3)(q25;q26)]  
Fusion : QuiverBCHE
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCHE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCHE
dbVarBCHE
ClinVarBCHE
1000_GenomesBCHE 
Exome Variant ServerBCHE
ExAC (Exome Aggregation Consortium)ENSG00000114200
GNOMAD BrowserENSG00000114200
Genetic variants : HAPMAP590
Genomic Variants (DGV)BCHE [DGVbeta]
DECIPHERBCHE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBCHE 
Mutations
ICGC Data PortalBCHE 
TCGA Data PortalBCHE 
Broad Tumor PortalBCHE
OASIS PortalBCHE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBCHE  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBCHE
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 BCHE
DgiDB (Drug Gene Interaction Database)BCHE
DoCM (Curated mutations)BCHE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BCHE (select a term)
intoGenBCHE
Cancer3DBCHE(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM177400   
Orphanet3704    23065   
DisGeNETBCHE
MedgenBCHE
Genetic Testing Registry BCHE
NextProtP06276 [Medical]
TSGene590
GENETestsBCHE
Target ValidationBCHE
Huge Navigator BCHE [HugePedia]
snp3D : Map Gene to Disease590
BioCentury BCIQBCHE
ClinGenBCHE
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD590
Chemical/Pharm GKB GenePA25294
Clinical trialBCHE
Miscellaneous
canSAR (ICR)BCHE (select the gene name)
Probes
Litterature
PubMed228 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBCHE
EVEXBCHE
GoPubMedBCHE
iHOPBCHE
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 Feb 28 13:02:55 CET 2018
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