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CCDC50 (coiled-coil domain containing 50)

Identity

Alias_namesC3orf6
DFNA44
deafness
Alias_symbol (synonym)Ymer
Other aliasYMER
HGNC (Hugo) CCDC50
LocusID (NCBI) 152137
Atlas_Id 51303
Location 3q28  [Link to chromosome band 3q28]
Location_base_pair Starts at 191046874 and ends at 191116459 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CCDC50 (3q28) / BIRC6 (2p22.3)CCDC50 (3q28) / CCDC50 (3q28)DCUN1D1 (3q26.33) / CCDC50 (3q28)
POFUT1 (20q11.21) / CCDC50 (3q28)DCUN1D1 3q26.33 / CCDC50 3q28

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)CCDC50   18111
Cards
Entrez_Gene (NCBI)CCDC50  152137  coiled-coil domain containing 50
AliasesC3orf6; DFNA44; YMER
GeneCards (Weizmann)CCDC50
Ensembl hg19 (Hinxton)ENSG00000152492 [Gene_View]  chr3:191046874-191116459 [Contig_View]  CCDC50 [Vega]
Ensembl hg38 (Hinxton)ENSG00000152492 [Gene_View]  chr3:191046874-191116459 [Contig_View]  CCDC50 [Vega]
ICGC DataPortalENSG00000152492
TCGA cBioPortalCCDC50
AceView (NCBI)CCDC50
Genatlas (Paris)CCDC50
WikiGenes152137
SOURCE (Princeton)CCDC50
Genetics Home Reference (NIH)CCDC50
Genomic and cartography
GoldenPath hg19 (UCSC)CCDC50  -     chr3:191046874-191116459 +  3q28   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CCDC50  -     3q28   [Description]    (hg38-Dec_2013)
EnsemblCCDC50 - 3q28 [CytoView hg19]  CCDC50 - 3q28 [CytoView hg38]
Mapping of homologs : NCBICCDC50 [Mapview hg19]  CCDC50 [Mapview hg38]
OMIM607453   611051   
Gene and transcription
Genbank (Entrez)AJ416916 AJ557013 AK055652 AK092045 AK093660
RefSeq transcript (Entrez)NM_174908 NM_178335
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_008994 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)CCDC50
Cluster EST : UnigeneHs.478682 [ NCBI ]
CGAP (NCI)Hs.478682
Alternative Splicing GalleryENSG00000152492
Gene ExpressionCCDC50 [ NCBI-GEO ]   CCDC50 [ EBI - ARRAY_EXPRESS ]   CCDC50 [ SEEK ]   CCDC50 [ MEM ]
Gene Expression Viewer (FireBrowse)CCDC50 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)152137
GTEX Portal (Tissue expression)CCDC50
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IVM0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IVM0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IVM0
Splice isoforms : SwissVarQ8IVM0
PhosPhoSitePlusQ8IVM0
Domains : Interpro (EBI)CCDC50_N   
Domain families : Pfam (Sanger)CCDC50_N (PF15295)   
Domain families : Pfam (NCBI)pfam15295   
Conserved Domain (NCBI)CCDC50
DMDM Disease mutations152137
Blocks (Seattle)CCDC50
SuperfamilyQ8IVM0
Human Protein AtlasENSG00000152492
Peptide AtlasQ8IVM0
HPRD06463
IPIIPI00383423   IPI00217059   
Protein Interaction databases
DIP (DOE-UCLA)Q8IVM0
IntAct (EBI)Q8IVM0
FunCoupENSG00000152492
BioGRIDCCDC50
STRING (EMBL)CCDC50
ZODIACCCDC50
Ontologies - Pathways
QuickGOQ8IVM0
Ontology : AmiGOprotein binding  cytoplasm  sensory perception of sound  ubiquitin protein ligase binding  
Ontology : EGO-EBIprotein binding  cytoplasm  sensory perception of sound  ubiquitin protein ligase binding  
NDEx NetworkCCDC50
Atlas of Cancer Signalling NetworkCCDC50
Wikipedia pathwaysCCDC50
Orthology - Evolution
OrthoDB152137
GeneTree (enSembl)ENSG00000152492
Phylogenetic Trees/Animal Genes : TreeFamCCDC50
HOVERGENQ8IVM0
HOGENOMQ8IVM0
Homologs : HomoloGeneCCDC50
Homology/Alignments : Family Browser (UCSC)CCDC50
Gene fusions - Rearrangements
Fusion: TCGADCUN1D1 3q26.33 CCDC50 3q28 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCDC50 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCDC50
dbVarCCDC50
ClinVarCCDC50
1000_GenomesCCDC50 
Exome Variant ServerCCDC50
ExAC (Exome Aggregation Consortium)CCDC50 (select the gene name)
Genetic variants : HAPMAP152137
Genomic Variants (DGV)CCDC50 [DGVbeta]
DECIPHER (Syndromes)3:191046874-191116459  ENSG00000152492
CONAN: Copy Number AnalysisCCDC50 
Mutations
ICGC Data PortalCCDC50 
TCGA Data PortalCCDC50 
Broad Tumor PortalCCDC50
OASIS PortalCCDC50 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCCDC50  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCCDC50
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 CCDC50
DgiDB (Drug Gene Interaction Database)CCDC50
DoCM (Curated mutations)CCDC50 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCDC50 (select a term)
intoGenCCDC50
Cancer3DCCDC50(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607453    611051   
Orphanet12046   
MedgenCCDC50
Genetic Testing Registry CCDC50
NextProtQ8IVM0 [Medical]
TSGene152137
GENETestsCCDC50
Huge Navigator CCDC50 [HugePedia]
snp3D : Map Gene to Disease152137
BioCentury BCIQCCDC50
ClinGenCCDC50
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD152137
Chemical/Pharm GKB GenePA25902
Clinical trialCCDC50
Miscellaneous
canSAR (ICR)CCDC50 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCCDC50
EVEXCCDC50
GoPubMedCCDC50
iHOPCCDC50
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Mar 14 12:58:58 CET 2017

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