Atlas of Genetics and Cytogenetics in Oncology and Haematology


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COX6A1 (cytochrome c oxidase subunit 6A1)

Identity

Alias_namesCOX6A
cytochrome c oxidase subunit VIa polypeptide 1
Other aliasCMTRID
COX6AL
HGNC (Hugo) COX6A1
LocusID (NCBI) 1337
Atlas_Id 62041
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 120438090 and ends at 120440742 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
COX6A1 (12q24.31) / C1orf123 (1p32.3)COX6A1 (12q24.31) / WDR33 (2q14.3)SARS (1p13.3) / COX6A1 (12q24.31)

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

8TD WIDTH=15%>Ensembl hg19 (Hinxton)
Nomenclature
HGNC (Hugo)COX6A1   2277
Cards
Entrez_Gene (NCBI)COX6A1  1337  cytochrome c oxidase subunit 6A1
AliasesCMTRID; COX6A; COX6AL
GeneCards (Weizmann)COX6A1 ENSG00000111775 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111775 [Gene_View]  chr12:120438090-120440742 [Contig_View]  COX6A1 [Vega]
ICGC DataPortalENSG00000111775
TCGA cBioPortalCOX6A1
AceView (NCBI)COX6A1
Genatlas (Paris)COX6A1
WikiGenes1337
SOURCE (Princeton)COX6A1
Genetics Home Reference (NIH)COX6A1
Genomic and cartography
GoldenPath hg38 (UCSC)COX6A1  -     chr12:120438090-120440742 +  12q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COX6A1  -     12q24.31   [Description]    (hg19-Feb_2009)
EnsemblCOX6A1 - 12q24.31 [CytoView hg19]  COX6A1 - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBICOX6A1 [Mapview hg19]  COX6A1 [Mapview hg38]
OMIM602072   616039   
Gene and transcription
Genbank (Entrez)AF020589 AK312009 BC007723 BC070186 BC107861
RefSeq transcript (Entrez)NM_004373
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COX6A1
Cluster EST : UnigeneHs.369624 [ NCBI ]
CGAP (NCI)Hs.369624
Alternative Splicing GalleryENSG00000111775
Gene ExpressionCOX6A1 [ NCBI-GEO ]   COX6A1 [ EBI - ARRAY_EXPRESS ]   COX6A1 [ SEEK ]   COX6A1 [ MEM ]
Gene Expression Viewer (FireBrowse)COX6A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1337
GTEX Portal (Tissue expression)COX6A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12074   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP12074  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12074
Splice isoforms : SwissVarP12074
PhosPhoSitePlusP12074
Domaine pattern : Prosite (Expaxy)COX6A (PS01329)   
Domains : Interpro (EBI)Cyt_c_oxidase_su6a    Cyt_c_oxidase_su6a_CS   
Domain families : Pfam (Sanger)COX6A (PF02046)   
Domain families : Pfam (NCBI)pfam02046   
Domain structure : Prodom (Prabi Lyon)Cyt_c_oxidase_su6a (PD006036)   
Conserved Domain (NCBI)COX6A1
DMDM Disease mutations1337
Blocks (Seattle)COX6A1
SuperfamilyP12074
Human Protein AtlasENSG00000111775
Peptide AtlasP12074
HPRD03644
IPIIPI00021793   IPI00383598   
Protein Interaction databases
DIP (DOE-UCLA)P12074
IntAct (EBI)P12074
FunCoupENSG00000111775
BioGRIDCOX6A1
STRING (EMBL)COX6A1
ZODIACCOX6A1
Ontologies - Pathways
QuickGOP12074
Ontology : AmiGOcytochrome-c oxidase activity  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex IV  generation of precursor metabolites and energy  mitochondrial electron transport, cytochrome c to oxygen  mitochondrial electron transport, cytochrome c to oxygen  aerobic respiration  enzyme regulator activity  regulation of catalytic activity  hydrogen ion transmembrane transport  
Ontology : EGO-EBIcytochrome-c oxidase activity  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex IV  generation of precursor metabolites and energy  mitochondrial electron transport, cytochrome c to oxygen  mitochondrial electron transport, cytochrome c to oxygen  aerobic respiration  enzyme regulator activity  regulation of catalytic activity  hydrogen ion transmembrane transport  
Pathways : KEGGOxidative phosphorylation    Cardiac muscle contraction    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkCOX6A1
Atlas of Cancer Signalling NetworkCOX6A1
Wikipedia pathwaysCOX6A1
Orthology - Evolution
OrthoDB1337
GeneTree (enSembl)ENSG00000111775
Phylogenetic Trees/Animal Genes : TreeFamCOX6A1
HOVERGENP12074
HOGENOMP12074
Homologs : HomoloGeneCOX6A1
Homology/Alignments : Family Browser (UCSC)COX6A1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOX6A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COX6A1
dbVarCOX6A1
ClinVarCOX6A1
1000_GenomesCOX6A1 
Exome Variant ServerCOX6A1
ExAC (Exome Aggregation Consortium)COX6A1 (select the gene name)
Genetic variants : HAPMAP1337
Genomic Variants (DGV)COX6A1 [DGVbeta]
DECIPHERCOX6A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOX6A1 
Mutations
ICGC Data PortalCOX6A1 
TCGA Data PortalCOX6A1 
Broad Tumor PortalCOX6A1
OASIS PortalCOX6A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOX6A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOX6A1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch COX6A1
DgiDB (Drug Gene Interaction Database)COX6A1
DoCM (Curated mutations)COX6A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COX6A1 (select a term)
intoGenCOX6A1
Cancer3DCOX6A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602072    616039   
Orphanet23324   
MedgenCOX6A1
Genetic Testing Registry COX6A1
NextProtP12074 [Medical]
TSGene1337
GENETestsCOX6A1
Target ValidationCOX6A1
Huge Navigator COX6A1 [HugePedia]
snp3D : Map Gene to Disease1337
BioCentury BCIQCOX6A1
ClinGenCOX6A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1337
Chemical/Pharm GKB GenePA26794
Clinical trialCOX6A1
Miscellaneous
canSAR (ICR)COX6A1 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOX6A1
EVEXCOX6A1
GoPubMedCOX6A1
iHOPCOX6A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:05:16 CEST 2017

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