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CCDC47 (coiled-coil domain containing 47)

Identity

Alias_symbol (synonym)GK001
Other aliasMSTP041
HGNC (Hugo) CCDC47
LocusID (NCBI) 57003
Atlas_Id 61547
Location 17q23.3  [Link to chromosome band 17q23]
Location_base_pair Starts at 63745250 and ends at 63773728 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)
CCDC47 (17q23.3) / HSPA8 (11q24.1)CCDC47 (17q23.3) / LINC00299 (2p25.1)NDUFAF4 (6q16.1) / CCDC47 (17q23.3)

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)CCDC47   24856
Cards
Entrez_Gene (NCBI)CCDC47  57003  coiled-coil domain containing 47
AliasesGK001; MSTP041
GeneCards (Weizmann)CCDC47
Ensembl hg19 (Hinxton)ENSG00000108588 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108588 [Gene_View]  chr17:63745250-63773728 [Contig_View]  CCDC47 [Vega]
ICGC DataPortalENSG00000108588
TCGA cBioPortalCCDC47
AceView (NCBI)CCDC47
Genatlas (Paris)CCDC47
WikiGenes57003
SOURCE (Princeton)CCDC47
Genetics Home Reference (NIH)CCDC47
Genomic and cartography
GoldenPath hg38 (UCSC)CCDC47  -     chr17:63745250-63773728 -  17q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CCDC47  -     17q23.3   [Description]    (hg19-Feb_2009)
EnsemblCCDC47 - 17q23.3 [CytoView hg19]  CCDC47 - 17q23.3 [CytoView hg38]
Mapping of homologs : NCBICCDC47 [Mapview hg19]  CCDC47 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF113221 AF226054 AK027786 AK027844 AK075387
RefSeq transcript (Entrez)NM_020198
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CCDC47
Cluster EST : UnigeneHs.202011 [ NCBI ]
CGAP (NCI)Hs.202011
Alternative Splicing GalleryENSG00000108588
Gene ExpressionCCDC47 [ NCBI-GEO ]   CCDC47 [ EBI - ARRAY_EXPRESS ]   CCDC47 [ SEEK ]   CCDC47 [ MEM ]
Gene Expression Viewer (FireBrowse)CCDC47 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57003
GTEX Portal (Tissue expression)CCDC47
Human Protein AtlasENSG00000108588-CCDC47 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96A33   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96A33  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96A33
Splice isoforms : SwissVarQ96A33
PhosPhoSitePlusQ96A33
Domains : Interpro (EBI)DUF1682   
Domain families : Pfam (Sanger)DUF1682 (PF07946)   
Domain families : Pfam (NCBI)pfam07946   
Conserved Domain (NCBI)CCDC47
DMDM Disease mutations57003
Blocks (Seattle)CCDC47
SuperfamilyQ96A33
Human Protein Atlas [tissue]ENSG00000108588-CCDC47 [tissue]
Peptide AtlasQ96A33
HPRD17041
IPIIPI00024642   IPI00743775   
Protein Interaction databases
DIP (DOE-UCLA)Q96A33
IntAct (EBI)Q96A33
FunCoupENSG00000108588
BioGRIDCCDC47
STRING (EMBL)CCDC47
ZODIACCCDC47
Ontologies - Pathways
QuickGOQ96A33
Ontology : AmiGOosteoblast differentiation  RNA binding  calcium ion binding  protein binding  endoplasmic reticulum  endoplasmic reticulum  rough endoplasmic reticulum  ER overload response  endoplasmic reticulum organization  post-embryonic development  membrane  integral component of membrane  ubiquitin-dependent ERAD pathway  calcium ion homeostasis  
Ontology : EGO-EBIosteoblast differentiation  RNA binding  calcium ion binding  protein binding  endoplasmic reticulum  endoplasmic reticulum  rough endoplasmic reticulum  ER overload response  endoplasmic reticulum organization  post-embryonic development  membrane  integral component of membrane  ubiquitin-dependent ERAD pathway  calcium ion homeostasis  
NDEx NetworkCCDC47
Atlas of Cancer Signalling NetworkCCDC47
Wikipedia pathwaysCCDC47
Orthology - Evolution
OrthoDB57003
GeneTree (enSembl)ENSG00000108588
Phylogenetic Trees/Animal Genes : TreeFamCCDC47
HOVERGENQ96A33
HOGENOMQ96A33
Homologs : HomoloGeneCCDC47
Homology/Alignments : Family Browser (UCSC)CCDC47
Gene fusions - Rearrangements
Fusion: Tumor Portal CCDC47
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCDC47 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCDC47
dbVarCCDC47
ClinVarCCDC47
1000_GenomesCCDC47 
Exome Variant ServerCCDC47
ExAC (Exome Aggregation Consortium)ENSG00000108588
GNOMAD BrowserENSG00000108588
Genetic variants : HAPMAP57003
Genomic Variants (DGV)CCDC47 [DGVbeta]
DECIPHERCCDC47 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCCDC47 
Mutations
ICGC Data PortalCCDC47 
TCGA Data PortalCCDC47 
Broad Tumor PortalCCDC47
OASIS PortalCCDC47 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCCDC47  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCCDC47
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 CCDC47
DgiDB (Drug Gene Interaction Database)CCDC47
DoCM (Curated mutations)CCDC47 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCDC47 (select a term)
intoGenCCDC47
Cancer3DCCDC47(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCCDC47
Genetic Testing Registry CCDC47
NextProtQ96A33 [Medical]
TSGene57003
GENETestsCCDC47
Target ValidationCCDC47
Huge Navigator CCDC47 [HugePedia]
snp3D : Map Gene to Disease57003
BioCentury BCIQCCDC47
ClinGenCCDC47
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57003
Chemical/Pharm GKB GenePA142672164
Clinical trialCCDC47
Miscellaneous
canSAR (ICR)CCDC47 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCCDC47
EVEXCCDC47
GoPubMedCCDC47
iHOPCCDC47
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:41:47 CET 2017

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