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EMSY (BRCA2-interacting transcriptional repressor)

Written2004-05Jean-Loup Huret, Sylvie Senon
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesC11orf30
chromosome 11 open reading frame 30
Other aliasEMSY
GL002
ENT0
HGNC (Hugo) EMSY
LocusID (NCBI) 56946
Atlas_Id 173
Location 11q13.5  [Link to chromosome band 11q13]
Location_base_pair Starts at 76445025 and ends at 76552899 bp from pter ( according to hg19-Feb_2009)  [Mapping EMSY.png]
Local_order CCND1 is also at 11q13
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CACNB1 (17q12) / EMSY (11q13.5)EMSY (11q13.5) / BBS9 (7p14.3)EMSY (11q13.5) / CTNND1 (11q12.1)
EMSY (11q13.5) / EMSY (11q13.5)EMSY (11q13.5) / KMT5B (11q13.2)EMSY (11q13.5) / SLC30A9 (4p13)
EMSY (11q13.5) / UVRAG (11q13.5)INTS4 (11q14.1) / EMSY (11q13.5)INTS8 (8q22.1) / EMSY (11q13.5)
INTS9 (8p21.1) / EMSY (11q13.5)

DNA/RNA

Description The gene spans 107 kb; on direct strand
Transcription at least 11 transcripts; one transcript of 4kb and 21 exons encodes a protein of 1323 amino acids and 141 kDa.

Protein

Localisation nucleus
Function binds BRCA2 at its N-term transactivation domain; may repress the transcritional activity of BRCA2

Implicated in

Note
  
Entity C11ORF30/EMSY was found amplified in 7 and 17 % of cases respectively of sporadic breast cancers and high grade ovarian cancers, but very rarely in other cancers tested.
Note 11q13 is frequently amplified in sporadic breast cancers; CCND1, in particular, is amplified in about 20% of cases. However, C11ORF30/EMSY was found amplified in cases with normal CCND1: they are independant factors.
Prognosis C11ORF30/EMSY amplification is associated with a worse prognosis in node-negative breast cancers, and has no prgnosis implication in node-positive breast cancers.
  

Bibliography

EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer.
Hughes-Davies L, Huntsman D, Ruas M, Fuks F, Bye J, Chin SF, Milner J, Brown LA, Hsu F, Gilks B, Nielsen T, Schulzer M, Chia S, Ragaz J, Cahn A, Linger L, Ozdag H, Cattaneo E, Jordanova ES, Schuuring E, Yu DS, Venkitaraman A, Ponder B, Doherty A, Aparicio S, Bentley D, Theillet C, Ponting CP, Caldas C, Kouzarides T
Cell. 2003 ; 115 (5) : 523-535.
PMID 14651845
 
EMSY, a BRCA-2 partner in crime.
Livingston DM
Nature medicine. 2004 ; 10 (2) : 127-128.
PMID 14760417
 

Citation

This paper should be referenced as such :
Huret, JL ; Senon, S
C11ORF30 (chromosome 11 open reading frame 30)
Atlas Genet Cytogenet Oncol Haematol. 2004;8(3):190-190.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/C11ORF30ID173.html

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Breast: Ductal carcinoma

External links

Nomenclature
HGNC (Hugo)EMSY   18071
Cards
AtlasC11ORF30ID173
Entrez_Gene (NCBI)EMSY  56946  EMSY, BRCA2 interacting transcriptional repressor
AliasesC11orf30; GL002
GeneCards (Weizmann)EMSY
Ensembl hg19 (Hinxton)ENSG00000158636 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158636 [Gene_View]  chr11:76445025-76552899 [Contig_View]  EMSY [Vega]
ICGC DataPortalENSG00000158636
TCGA cBioPortalEMSY
AceView (NCBI)EMSY
Genatlas (Paris)EMSY
WikiGenes56946
SOURCE (Princeton)EMSY
Genetics Home Reference (NIH)EMSY
Genomic and cartography
GoldenPath hg38 (UCSC)EMSY  -     chr11:76445025-76552899 +  11q13.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EMSY  -     11q13.5   [Description]    (hg19-Feb_2009)
EnsemblEMSY - 11q13.5 [CytoView hg19]  EMSY - 11q13.5 [CytoView hg38]
Mapping of homologs : NCBIEMSY [Mapview hg19]  EMSY [Mapview hg38]
OMIM608574   
Gene and transcription
Genbank (Entrez)AF226047 AI275430 AJ430203 AK023651 AK125114
RefSeq transcript (Entrez)NM_001300942 NM_001300943 NM_001300944 NM_020193
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EMSY
Cluster EST : UnigeneHs.352588 [ NCBI ]
CGAP (NCI)Hs.352588
Alternative Splicing GalleryENSG00000158636
Gene ExpressionEMSY [ NCBI-GEO ]   EMSY [ EBI - ARRAY_EXPRESS ]   EMSY [ SEEK ]   EMSY [ MEM ]
Gene Expression Viewer (FireBrowse)EMSY [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56946
GTEX Portal (Tissue expression)EMSY
Human Protein AtlasENSG00000158636-EMSY [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z589   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z589  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z589
Splice isoforms : SwissVarQ7Z589
PhosPhoSitePlusQ7Z589
Domaine pattern : Prosite (Expaxy)ENT (PS51138)   
Domains : Interpro (EBI)EMSY    ENT_dom   
Domain families : Pfam (Sanger)ENT (PF03735)   
Domain families : Pfam (NCBI)pfam03735   
Domain families : Smart (EMBL)ENT (SM01191)  
Conserved Domain (NCBI)EMSY
DMDM Disease mutations56946
Blocks (Seattle)EMSY
PDB (SRS)1UTU    1UZ3    2FMM   
PDB (PDBSum)1UTU    1UZ3    2FMM   
PDB (IMB)1UTU    1UZ3    2FMM   
PDB (RSDB)1UTU    1UZ3    2FMM   
Structural Biology KnowledgeBase1UTU    1UZ3    2FMM   
SCOP (Structural Classification of Proteins)1UTU    1UZ3    2FMM   
CATH (Classification of proteins structures)1UTU    1UZ3    2FMM   
SuperfamilyQ7Z589
Human Protein Atlas [tissue]ENSG00000158636-EMSY [tissue]
Peptide AtlasQ7Z589
HPRD10544
IPIIPI00872314   IPI00413757   IPI00787382   IPI00983434   IPI01009430   IPI00152627   IPI00922191   IPI00977533   IPI00981684   IPI00976317   IPI00979726   IPI00982344   IPI00976380   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z589
IntAct (EBI)Q7Z589
FunCoupENSG00000158636
BioGRIDEMSY
STRING (EMBL)EMSY
ZODIACEMSY
Ontologies - Pathways
QuickGOQ7Z589
Ontology : AmiGOprotein binding  nucleoplasm  DNA repair  transcription, DNA-templated  regulation of transcription, DNA-templated  covalent chromatin modification  protein homodimerization activity  
Ontology : EGO-EBIprotein binding  nucleoplasm  DNA repair  transcription, DNA-templated  regulation of transcription, DNA-templated  covalent chromatin modification  protein homodimerization activity  
NDEx NetworkEMSY
Atlas of Cancer Signalling NetworkEMSY
Wikipedia pathwaysEMSY
Orthology - Evolution
OrthoDB56946
GeneTree (enSembl)ENSG00000158636
Phylogenetic Trees/Animal Genes : TreeFamEMSY
HOVERGENQ7Z589
HOGENOMQ7Z589
Homologs : HomoloGeneEMSY
Homology/Alignments : Family Browser (UCSC)EMSY
Gene fusions - Rearrangements
Fusion : MitelmanEMSY/BBS9 [11q13.5/7p14.3]  
Fusion : MitelmanEMSY/UVRAG [11q13.5/11q13.5]  [t(11;11)(q13;q13)]  
Fusion : MitelmanCACNB1/C11orf30 [17q12/11q13.5]  [t(11;17)(q13;q12)]  
Fusion : MitelmanINTS4/C11orf30 [11q14.1/11q13.5]  [t(11;11)(q13;q14)]  
Fusion: TCGA_MDACCEMSY 11q13.5 BBS9 7p14.3 BRCA
Fusion: TCGA_MDACCC11orf30 11q13.5 UVRAG 11q13.5 BRCA
Fusion: TCGA_MDACCCACNB1 17q12 C11orf30 11q13.5 BRCA
Fusion: TCGA_MDACCINTS4 11q14.1 C11orf30 11q13.5 BRCA
Fusion PortalEMSY 11q13.5 BBS9 7p14.3 BRCA
Fusion PortalC11orf30 11q13.5 UVRAG 11q13.5 BRCA
Fusion PortalCACNB1 17q12 C11orf30 11q13.5 BRCA
Fusion PortalINTS4 11q14.1 C11orf30 11q13.5 BRCA
Fusion : QuiverEMSY
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEMSY [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EMSY
dbVarEMSY
ClinVarEMSY
1000_GenomesEMSY 
Exome Variant ServerEMSY
ExAC (Exome Aggregation Consortium)ENSG00000158636
GNOMAD BrowserENSG00000158636
Genetic variants : HAPMAP56946
Genomic Variants (DGV)EMSY [DGVbeta]
DECIPHEREMSY [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEMSY 
Mutations
ICGC Data PortalEMSY 
TCGA Data PortalEMSY 
Broad Tumor PortalEMSY
OASIS PortalEMSY [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDEMSY
BioMutasearch EMSY
DgiDB (Drug Gene Interaction Database)EMSY
DoCM (Curated mutations)EMSY (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EMSY (select a term)
intoGenEMSY
NCG5 (London)EMSY
Cancer3DEMSY(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608574   
Orphanet
DisGeNETEMSY
MedgenEMSY
Genetic Testing Registry EMSY
NextProtQ7Z589 [Medical]
TSGene56946
GENETestsEMSY
Target ValidationEMSY
Huge Navigator EMSY [HugePedia]
snp3D : Map Gene to Disease56946
BioCentury BCIQEMSY
ClinGenEMSY
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56946
Chemical/Pharm GKB GenePA134904392
Clinical trialEMSY
Miscellaneous
canSAR (ICR)EMSY (select the gene name)
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEMSY
EVEXEMSY
GoPubMedEMSY
iHOPEMSY
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon May 14 12:33:22 CEST 2018
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jlhuret@AtlasGeneticsOncology.org.