Atlas of Genetics and Cytogenetics in Oncology and Haematology


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COX17 (COX17, cytochrome c oxidase copper chaperone)

Identity

Alias_namesCOX17 (yeast) homolog, cytochrome c oxidase assembly protein
COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)
Other alias-
HGNC (Hugo) COX17
LocusID (NCBI) 10063
Atlas_Id 40135
Location 3q13.33  [Link to chromosome band 3q13]
Location_base_pair Starts at 119669525 and ends at 119677396 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)
COX17 (3q13.33) / SLC5A6 (2p23.3)KIAA0922 (4q31.3) / COX17 (3q13.33)

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)COX17   2264
Cards
Entrez_Gene (NCBI)COX17  10063  COX17, cytochrome c oxidase copper chaperone
Aliases
GeneCards (Weizmann)COX17
Ensembl hg19 (Hinxton)ENSG00000138495 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138495 [Gene_View]  chr3:119669525-119677396 [Contig_View]  COX17 [Vega]
ICGC DataPortalENSG00000138495
TCGA cBioPortalCOX17
AceView (NCBI)COX17
Genatlas (Paris)COX17
WikiGenes10063
SOURCE (Princeton)COX17
Genetics Home Reference (NIH)COX17
Genomic and cartography
GoldenPath hg38 (UCSC)COX17  -     chr3:119669525-119677396 -  3q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COX17  -     3q13.33   [Description]    (hg19-Feb_2009)
EnsemblCOX17 - 3q13.33 [CytoView hg19]  COX17 - 3q13.33 [CytoView hg38]
Mapping of homologs : NCBICOX17 [Mapview hg19]  COX17 [Mapview hg38]
OMIM604813   
Gene and transcription
Genbank (Entrez)AK054900 AK095366 AK312143 BC010933 BC105280
RefSeq transcript (Entrez)NM_005694
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COX17
Cluster EST : UnigeneHs.534383 [ NCBI ]
CGAP (NCI)Hs.534383
Alternative Splicing GalleryENSG00000138495
Gene ExpressionCOX17 [ NCBI-GEO ]   COX17 [ EBI - ARRAY_EXPRESS ]   COX17 [ SEEK ]   COX17 [ MEM ]
Gene Expression Viewer (FireBrowse)COX17 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10063
GTEX Portal (Tissue expression)COX17
Human Protein AtlasENSG00000138495-COX17 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14061   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14061  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14061
Splice isoforms : SwissVarQ14061
PhosPhoSitePlusQ14061
Domaine pattern : Prosite (Expaxy)CHCH (PS51808)   
Domains : Interpro (EBI)Cys_alpha_HP_mot_SF    Cyt_c_oxidase_Cu-chaperone   
Domain families : Pfam (Sanger)COX17 (PF05051)   
Domain families : Pfam (NCBI)pfam05051   
Domain structure : Prodom (Prabi Lyon)Cyt_c_oxidase_Cu-chaperone (PD014904)   
Conserved Domain (NCBI)COX17
DMDM Disease mutations10063
Blocks (Seattle)COX17
PDB (SRS)2L0Y    2LGQ    2RN9    2RNB   
PDB (PDBSum)2L0Y    2LGQ    2RN9    2RNB   
PDB (IMB)2L0Y    2LGQ    2RN9    2RNB   
PDB (RSDB)2L0Y    2LGQ    2RN9    2RNB   
Structural Biology KnowledgeBase2L0Y    2LGQ    2RN9    2RNB   
SCOP (Structural Classification of Proteins)2L0Y    2LGQ    2RN9    2RNB   
CATH (Classification of proteins structures)2L0Y    2LGQ    2RN9    2RNB   
SuperfamilyQ14061
Human Protein Atlas [tissue]ENSG00000138495-COX17 [tissue]
Peptide AtlasQ14061
HPRD05314
IPIIPI00218144   IPI00477819   IPI00946508   IPI00796062   IPI00945872   
Protein Interaction databases
DIP (DOE-UCLA)Q14061
IntAct (EBI)Q14061
FunCoupENSG00000138495
BioGRIDCOX17
STRING (EMBL)COX17
ZODIACCOX17
Ontologies - Pathways
QuickGOQ14061
Ontology : AmiGOcopper ion binding  protein binding  cytoplasm  mitochondrial intermembrane space  mitochondrial intermembrane space  generation of precursor metabolites and energy  copper ion transport  brain development  heart development  positive regulation of cell proliferation  copper chaperone activity  copper chaperone activity  mitochondrial respiratory chain complex IV assembly  mitochondrial respiratory chain complex IV assembly  cuprous ion binding  positive regulation of cytochrome-c oxidase activity  
Ontology : EGO-EBIcopper ion binding  protein binding  cytoplasm  mitochondrial intermembrane space  mitochondrial intermembrane space  generation of precursor metabolites and energy  copper ion transport  brain development  heart development  positive regulation of cell proliferation  copper chaperone activity  copper chaperone activity  mitochondrial respiratory chain complex IV assembly  mitochondrial respiratory chain complex IV assembly  cuprous ion binding  positive regulation of cytochrome-c oxidase activity  
Pathways : KEGGOxidative phosphorylation   
NDEx NetworkCOX17
Atlas of Cancer Signalling NetworkCOX17
Wikipedia pathwaysCOX17
Orthology - Evolution
OrthoDB10063
GeneTree (enSembl)ENSG00000138495
Phylogenetic Trees/Animal Genes : TreeFamCOX17
HOVERGENQ14061
HOGENOMQ14061
Homologs : HomoloGeneCOX17
Homology/Alignments : Family Browser (UCSC)COX17
Gene fusions - Rearrangements
Tumor Fusion PortalCOX17
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOX17 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COX17
dbVarCOX17
ClinVarCOX17
1000_GenomesCOX17 
Exome Variant ServerCOX17
ExAC (Exome Aggregation Consortium)ENSG00000138495
GNOMAD BrowserENSG00000138495
Genetic variants : HAPMAP10063
Genomic Variants (DGV)COX17 [DGVbeta]
DECIPHERCOX17 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOX17 
Mutations
ICGC Data PortalCOX17 
TCGA Data PortalCOX17 
Broad Tumor PortalCOX17
OASIS PortalCOX17 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOX17  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOX17
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch COX17
DgiDB (Drug Gene Interaction Database)COX17
DoCM (Curated mutations)COX17 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COX17 (select a term)
intoGenCOX17
Cancer3DCOX17(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604813   
Orphanet
DisGeNETCOX17
MedgenCOX17
Genetic Testing Registry COX17
NextProtQ14061 [Medical]
TSGene10063
GENETestsCOX17
Target ValidationCOX17
Huge Navigator COX17 [HugePedia]
snp3D : Map Gene to Disease10063
BioCentury BCIQCOX17
ClinGenCOX17
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10063
Chemical/Pharm GKB GenePA26780
Clinical trialCOX17
Miscellaneous
canSAR (ICR)COX17 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOX17
EVEXCOX17
GoPubMedCOX17
iHOPCOX17
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:08:42 CET 2017

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