Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ESCO1 (establishment of sister chromatid cohesion N-acetyltransferase 1)

Identity

Alias (NCBI)A930014I12Rik
CTF
ECO1
EFO1
ESO1
HGNC (Hugo) ESCO1
HGNC Alias symbESO1
EFO1
KIAA1911
HGNC Previous nameestablishment of cohesion 1 homolog 1 (S. cerevisiae)
LocusID (NCBI) 114799
Atlas_Id 50238
Location 18q11.2  [Link to chromosome band 18q11]
Location_base_pair Starts at 21529284 and ends at 21600704 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)
ESCO1 (18q11.2)::ABHD3 (18q11.2)ESCO1 (18q11.2)::ESCO1 (18q11.2)ESCO1 (18q11.2)::FAM210A (18p11.21)
ESCO1 (18q11.2)::FAM65C (20q13.13)ESCO1 (18q11.2)::KANK1 (9p24.3)ESCO1 (18q11.2)::LAMA3 (18q11.2)
ESCO1 (18q11.2)::MGRN1 (16p13.3)ESCO1 18q11.2::ABHD3 18q11.2ESCO1 18q11.2::FAM65C 20q13.13
ESCO1 18q11.2::KANK1 9p24.3ESCO1 18q11.2::LAMA3 18q11.2

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)ESCO1   24645
Cards
Entrez_Gene (NCBI)ESCO1    establishment of sister chromatid cohesion N-acetyltransferase 1
AliasesA930014I12Rik; CTF; ECO1; EFO1; 
ESO1
GeneCards (Weizmann)ESCO1
Ensembl hg19 (Hinxton)ENSG00000141446 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141446 [Gene_View]  ENSG00000141446 [Sequence]  chr18:21529284-21600704 [Contig_View]  ESCO1 [Vega]
ICGC DataPortalENSG00000141446
TCGA cBioPortalESCO1
AceView (NCBI)ESCO1
Genatlas (Paris)ESCO1
SOURCE (Princeton)ESCO1
Genetics Home Reference (NIH)ESCO1
Genomic and cartography
GoldenPath hg38 (UCSC)ESCO1  -     chr18:21529284-21600704 -  18q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ESCO1  -     18q11.2   [Description]    (hg19-Feb_2009)
GoldenPathESCO1 - 18q11.2 [CytoView hg19]  ESCO1 - 18q11.2 [CytoView hg38]
ImmunoBaseENSG00000141446
Genome Data Viewer NCBIESCO1 [Mapview hg19]  
OMIM609674   
Gene and transcription
Genbank (Entrez)AB067498 AK090579 AK096746 AL832041 AL834200
RefSeq transcript (Entrez)NM_052911
Consensus coding sequences : CCDS (NCBI)ESCO1
Gene ExpressionESCO1 [ NCBI-GEO ]   ESCO1 [ EBI - ARRAY_EXPRESS ]   ESCO1 [ SEEK ]   ESCO1 [ MEM ]
Gene Expression Viewer (FireBrowse)ESCO1 [ Firebrowse - Broad ]
GenevisibleExpression of ESCO1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)114799
GTEX Portal (Tissue expression)ESCO1
Human Protein AtlasENSG00000141446-ESCO1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5FWF5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5FWF5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5FWF5
PhosPhoSitePlusQ5FWF5
Domains : Interpro (EBI)AcTrfase_ESCO1    AcTrfase_ESCO_Znf_dom    ESCO_Acetyltransf_dom   
Domain families : Pfam (Sanger)Acetyltransf_13 (PF13880)    zf-C2H2_3 (PF13878)   
Domain families : Pfam (NCBI)pfam13880    pfam13878   
Conserved Domain (NCBI)ESCO1
PDB (RSDB)4MXE    5T53   
PDB Europe4MXE    5T53   
PDB (PDBSum)4MXE    5T53   
PDB (IMB)4MXE    5T53   
Structural Biology KnowledgeBase4MXE    5T53   
SCOP (Structural Classification of Proteins)4MXE    5T53   
CATH (Classification of proteins structures)4MXE    5T53   
SuperfamilyQ5FWF5
AlphaFold pdb e-kbQ5FWF5   
Human Protein Atlas [tissue]ENSG00000141446-ESCO1 [tissue]
HPRD16868
Protein Interaction databases
DIP (DOE-UCLA)Q5FWF5
IntAct (EBI)Q5FWF5
BioGRIDESCO1
STRING (EMBL)ESCO1
ZODIACESCO1
Ontologies - Pathways
QuickGOQ5FWF5
Ontology : AmiGOchromatin  nucleoplasm  chromosome  regulation of DNA replication  regulation of DNA replication  sister chromatid cohesion  N-acetyltransferase activity  N-acetyltransferase activity  zinc ion binding  acetyltransferase activity  peptidyl-lysine acetylation  post-translational protein acetylation  post-translational protein acetylation  peptide-lysine-N-acetyltransferase activity  
Ontology : EGO-EBIchromatin  nucleoplasm  chromosome  regulation of DNA replication  regulation of DNA replication  sister chromatid cohesion  N-acetyltransferase activity  N-acetyltransferase activity  zinc ion binding  acetyltransferase activity  peptidyl-lysine acetylation  post-translational protein acetylation  post-translational protein acetylation  peptide-lysine-N-acetyltransferase activity  
NDEx NetworkESCO1
Atlas of Cancer Signalling NetworkESCO1
Wikipedia pathwaysESCO1
Orthology - Evolution
OrthoDB114799
GeneTree (enSembl)ENSG00000141446
Phylogenetic Trees/Animal Genes : TreeFamESCO1
Homologs : HomoloGeneESCO1
Homology/Alignments : Family Browser (UCSC)ESCO1
Gene fusions - Rearrangements
Fusion : MitelmanESCO1::ABHD3 [18q11.2/18q11.2]  
Fusion : MitelmanESCO1::FAM65C [18q11.2/20q13.13]  
Fusion : MitelmanESCO1::KANK1 [18q11.2/9p24.3]  
Fusion : MitelmanESCO1::LAMA3 [18q11.2/18q11.2]  
Fusion : QuiverESCO1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerESCO1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESCO1
dbVarESCO1
ClinVarESCO1
MonarchESCO1
1000_GenomesESCO1 
Exome Variant ServerESCO1
GNOMAD BrowserENSG00000141446
Varsome BrowserESCO1
ACMGESCO1 variants
VarityQ5FWF5
Genomic Variants (DGV)ESCO1 [DGVbeta]
DECIPHERESCO1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisESCO1 
Mutations
ICGC Data PortalESCO1 
TCGA Data PortalESCO1 
Broad Tumor PortalESCO1
OASIS PortalESCO1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICESCO1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DESCO1
Mutations and Diseases : HGMDESCO1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaESCO1
DgiDB (Drug Gene Interaction Database)ESCO1
DoCM (Curated mutations)ESCO1
CIViC (Clinical Interpretations of Variants in Cancer)ESCO1
Cancer3DESCO1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609674   
Orphanet
DisGeNETESCO1
MedgenESCO1
Genetic Testing Registry ESCO1
NextProtQ5FWF5 [Medical]
GENETestsESCO1
Target ValidationESCO1
Huge Navigator ESCO1 [HugePedia]
ClinGenESCO1
Clinical trials, drugs, therapy
MyCancerGenomeESCO1
Protein Interactions : CTDESCO1
Pharm GKB GenePA134924215
PharosQ5FWF5
Clinical trialESCO1
Miscellaneous
canSAR (ICR)ESCO1
HarmonizomeESCO1
ARCHS4ESCO1
DataMed IndexESCO1
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXESCO1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:32:31 CET 2022

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