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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
Note: we send fiscal receipts for donations equal or above 50 Euros or Dollars

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C11orf30 (chromosome 11 open reading frame 30)


Other namesC11ORF30
HGNC (Hugo) C11orf30
LocusID (NCBI) 56946
Location 11q13.5
Location_base_pair Starts at 76156069 and ends at 76262589 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.

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]  chr11:76156069-76262589 [Contig_View]  C11orf30 [Vega]
Ensembl hg38 (Hinxton)ENSG00000158636 [Gene_View]  chr11:76156069-76262589 [Contig_View]  C11orf30 [Vega]
ICGC DataPortalENSG00000158636
AceView (NCBI)C11orf30
Genatlas (Paris)C11orf30
SOURCE (Princeton)C11orf30
Genomic and cartography
GoldenPath hg19 (UCSC)C11orf30  -     chr11:76156069-76262589 +  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)AC_000143 NC_000011 NC_018922 NT_167190 NW_001838028 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]
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 : AmiGOnucleus  DNA repair  transcription, DNA-templated  regulation of transcription, DNA-templated  chromatin modification  
Ontology : EGO-EBInucleus  DNA repair  transcription, DNA-templated  regulation of transcription, DNA-templated  chromatin modification  
Protein Interaction DatabaseC11orf30
DoCM (Curated mutations)C11orf30
Wikipedia pathwaysC11orf30
Gene fusion - rearrangements
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 PortalENSG00000158636 
Somatic Mutations in Cancer : COSMICC11orf30 
CONAN: Copy Number AnalysisC11orf30 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)11:76156069-76262589
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
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
PubMed46 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

Search in all EBI   NCBI


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 ]

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indexed on : Tue Feb 17 20:16:15 CET 2015

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