Atlas of Genetics and Cytogenetics in Oncology and Haematology

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C11orf30 (chromosome 11 open reading frame 30)


Other namesEMSY
HGNC (Hugo) C11orf30
LocusID (NCBI) 56946
Atlas_Id 173
Location 11q13.5
Location_base_pair Starts at 76156069 and ends at 76263943 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order CCND1 is also at 11q13


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.


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

Implicated in

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.

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors DuctCarcBreastID5593

External links

HGNC (Hugo)C11orf30   18071
Entrez_Gene (NCBI)C11orf30  56946  chromosome 11 open reading frame 30
GeneCards (Weizmann)C11orf30
Ensembl hg19 (Hinxton)ENSG00000158636 [Gene_View]  chr11:76156069-76263943 [Contig_View]  C11orf30 [Vega]
Ensembl hg38 (Hinxton)ENSG00000158636 [Gene_View]  chr11:76156069-76263943 [Contig_View]  C11orf30 [Vega]
ICGC DataPortalENSG00000158636
TCGA cBioPortalC11orf30
AceView (NCBI)C11orf30
Genatlas (Paris)C11orf30
SOURCE (Princeton)C11orf30
Genomic and cartography
GoldenPath hg19 (UCSC)C11orf30  -     chr11:76156069-76263943 +  11q13.5   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)C11orf30  -     11q13.5   [Description]    (hg38-Dec_2013)
EnsemblC11orf30 - 11q13.5 [CytoView hg19]  C11orf30 - 11q13.5 [CytoView hg38]
Mapping of homologs : NCBIC11orf30 [Mapview hg19]  C11orf30 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF226047 AI275430 AJ430203 AK023651 AK125114
RefSeq transcript (Entrez)NM_001300942 NM_001300943 NM_001300944 NM_020193
RefSeq genomic (Entrez)NC_000011 NC_018922 NT_167190 NW_004929380
Consensus coding sequences : CCDS (NCBI)C11orf30
Cluster EST : UnigeneHs.352588 [ NCBI ]
CGAP (NCI)Hs.352588
Alternative Splicing : Fast-db (Paris)GSHG0005124
Alternative Splicing GalleryENSG00000158636
Gene ExpressionC11orf30 [ NCBI-GEO ]     C11orf30 [ SEEK ]   C11orf30 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z589 (Uniprot)
NextProtQ7Z589  [Medical]  [Publications]
With graphics : InterProQ7Z589
Splice isoforms : SwissVarQ7Z589 (Swissvar)
Domaine pattern : Prosite (Expaxy)ENT (PS51138)   
Domains : Interpro (EBI)ENT_N   
Related proteins : CluSTrQ7Z589
Domain families : Pfam (Sanger)ENT (PF03735)   
Domain families : Pfam (NCBI)pfam03735   
DMDM Disease mutations56946
Blocks (Seattle)Q7Z589
PDB (SRS)1UTU    1UZ3    2FMM   
PDB (PDBSum)1UTU    1UZ3    2FMM   
PDB (IMB)1UTU    1UZ3    2FMM   
PDB (RSDB)1UTU    1UZ3    2FMM   
Human Protein AtlasENSG00000158636
Peptide AtlasQ7Z589
IPIIPI00872314   IPI00413757   IPI00787382   IPI00983434   IPI01009430   IPI00152627   IPI00922191   IPI00977533   IPI00981684   IPI00976317   IPI00979726   IPI00982344   IPI00976380   
Protein Interaction databases
IntAct (EBI)Q7Z589
Ontologies - Pathways
Ontology : AmiGOprotein binding  nucleoplasm  DNA repair  transcription, DNA-templated  regulation of transcription, DNA-templated  chromatin modification  protein homodimerization activity  
Ontology : EGO-EBIprotein binding  nucleoplasm  DNA repair  transcription, DNA-templated  regulation of transcription, DNA-templated  chromatin modification  protein homodimerization activity  
Protein Interaction DatabaseC11orf30
Atlas of Cancer Signalling NetworkC11orf30
Wikipedia pathwaysC11orf30
Gene fusion - Rearrangements
Fusion: TCGAC11orf30 UVRAG  C11orf30 BBS9  INTS4 C11orf30  CACNB1 C11orf30  
Polymorphisms : SNP, variants
NCBI Variation ViewerC11orf30 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C11orf30
Exome Variant ServerC11orf30
SNP (GeneSNP Utah)C11orf30
SNP : HGBaseC11orf30
Genetic variants : HAPMAPC11orf30
Genomic Variants (DGV)C11orf30 [DGVbeta]
ICGC Data PortalC11orf30 
TCGA Data PortalC11orf30 
Tumor PortalC11orf30
Somatic Mutations in Cancer : COSMICC11orf30 
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
DoCM (Curated mutations) C11orf30
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)11:76156069-76263943
CONAN: Copy Number AnalysisC11orf30 
Mutations and Diseases : HGMDC11orf30
NextProtQ7Z589 [Medical]
Disease Genetic AssociationC11orf30
Huge Navigator C11orf30 [HugePedia]  C11orf30 [HugeCancerGEM]
snp3D : Map Gene to Disease56946
DGIdb (Drug Gene Interaction db)C11orf30
BioCentury BCIQC11orf30
General knowledge
Homologs : HomoloGeneC11orf30
Homology/Alignments : Family Browser (UCSC)C11orf30
Phylogenetic Trees/Animal Genes : TreeFamC11orf30
Chemical/Protein Interactions : CTD56946
Chemical/Pharm GKB GenePA134904392
Clinical trialC11orf30
Cancer Resource (Charite)ENSG00000158636
Other databases
PubMed49 Pubmed reference(s) in Entrez


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
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Written05-2004Jean-Loup Huret, Sylvie Senon


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 :

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indexed on : Fri Aug 28 19:36:17 CEST 2015

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