Atlas of Genetics and Cytogenetics in Oncology and Haematology


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COX4I1 (cytochrome c oxidase subunit 4I1)

Identity

Alias_namesCOX4
cytochrome c oxidase subunit IV
cytochrome c oxidase subunit IV isoform 1
Alias_symbol (synonym)COX4-1
Other aliasCOX IV-1
COXIV
COXIV-1
HGNC (Hugo) COX4I1
LocusID (NCBI) 1327
Atlas_Id 47235
Location 16q24.1  [Link to chromosome band 16q24]
Location_base_pair Starts at 85833173 and ends at 85840609 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
COX4I1 (16q24.1) / NOP16 (5q35.2)COX4I1 (16q24.1) / TOMM22 (22q13.1)KMT5B (11q13.2) / COX4I1 (16q24.1)
WHSC1L1 (8p11.23) / COX4I1 (16q24.1)

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)COX4I1   2265
Cards
Entrez_Gene (NCBI)COX4I1  1327  cytochrome c oxidase subunit 4I1
AliasesCOX; COX4; COX4-1; COXIV; 
COXIV-1
GeneCards (Weizmann)COX4I1
Ensembl hg19 (Hinxton)ENSG00000131143 [Gene_View]  chr16:85833173-85840609 [Contig_View]  COX4I1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000131143 [Gene_View]  chr16:85833173-85840609 [Contig_View]  COX4I1 [Vega]
ICGC DataPortalENSG00000131143
TCGA cBioPortalCOX4I1
AceView (NCBI)COX4I1
Genatlas (Paris)COX4I1
WikiGenes1327
SOURCE (Princeton)COX4I1
Genetics Home Reference (NIH)COX4I1
Genomic and cartography
GoldenPath hg19 (UCSC)COX4I1  -     chr16:85833173-85840609 +  16q24.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COX4I1  -     16q24.1   [Description]    (hg38-Dec_2013)
EnsemblCOX4I1 - 16q24.1 [CytoView hg19]  COX4I1 - 16q24.1 [CytoView hg38]
Mapping of homologs : NCBICOX4I1 [Mapview hg19]  COX4I1 [Mapview hg38]
OMIM123864   
Gene and transcription
Genbank (Entrez)AK027136 AK311847 BC008704 BC021236 BC039013
RefSeq transcript (Entrez)NM_001318786 NM_001318788 NM_001318794 NM_001318797 NM_001318802 NM_001861
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_042280 NT_010498 NW_004929402
Consensus coding sequences : CCDS (NCBI)COX4I1
Cluster EST : UnigeneHs.433419 [ NCBI ]
CGAP (NCI)Hs.433419
Alternative Splicing GalleryENSG00000131143
Gene ExpressionCOX4I1 [ NCBI-GEO ]   COX4I1 [ EBI - ARRAY_EXPRESS ]   COX4I1 [ SEEK ]   COX4I1 [ MEM ]
Gene Expression Viewer (FireBrowse)COX4I1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1327
GTEX Portal (Tissue expression)COX4I1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13073   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP13073  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13073
Splice isoforms : SwissVarP13073
PhosPhoSitePlusP13073
Domains : Interpro (EBI)Cyt_c_oxidase_su4    Cyt_c_oxidase_su4_fam   
Domain families : Pfam (Sanger)COX4 (PF02936)   
Domain families : Pfam (NCBI)pfam02936   
Conserved Domain (NCBI)COX4I1
DMDM Disease mutations1327
Blocks (Seattle)COX4I1
SuperfamilyP13073
Human Protein AtlasENSG00000131143
Peptide AtlasP13073
HPRD00466
IPIIPI00006579   
Protein Interaction databases
DIP (DOE-UCLA)P13073
IntAct (EBI)P13073
FunCoupENSG00000131143
BioGRIDCOX4I1
STRING (EMBL)COX4I1
ZODIACCOX4I1
Ontologies - Pathways
QuickGOP13073
Ontology : AmiGOcytochrome-c oxidase activity  protein binding  nucleus  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  response to nutrient  membrane  extracellular exosome  hydrogen ion transmembrane transport  hydrogen ion transmembrane transport  
Ontology : EGO-EBIcytochrome-c oxidase activity  protein binding  nucleus  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  response to nutrient  membrane  extracellular exosome  hydrogen ion transmembrane transport  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 NetworkCOX4I1
Atlas of Cancer Signalling NetworkCOX4I1
Wikipedia pathwaysCOX4I1
Orthology - Evolution
OrthoDB1327
GeneTree (enSembl)ENSG00000131143
Phylogenetic Trees/Animal Genes : TreeFamCOX4I1
HOVERGENP13073
HOGENOMP13073
Homologs : HomoloGeneCOX4I1
Homology/Alignments : Family Browser (UCSC)COX4I1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOX4I1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COX4I1
dbVarCOX4I1
ClinVarCOX4I1
1000_GenomesCOX4I1 
Exome Variant ServerCOX4I1
ExAC (Exome Aggregation Consortium)COX4I1 (select the gene name)
Genetic variants : HAPMAP1327
Genomic Variants (DGV)COX4I1 [DGVbeta]
DECIPHER (Syndromes)16:85833173-85840609  ENSG00000131143
CONAN: Copy Number AnalysisCOX4I1 
Mutations
ICGC Data PortalCOX4I1 
TCGA Data PortalCOX4I1 
Broad Tumor PortalCOX4I1
OASIS PortalCOX4I1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOX4I1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOX4I1
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 COX4I1
DgiDB (Drug Gene Interaction Database)COX4I1
DoCM (Curated mutations)COX4I1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COX4I1 (select a term)
intoGenCOX4I1
Cancer3DCOX4I1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123864   
Orphanet
MedgenCOX4I1
Genetic Testing Registry COX4I1
NextProtP13073 [Medical]
TSGene1327
GENETestsCOX4I1
Huge Navigator COX4I1 [HugePedia]
snp3D : Map Gene to Disease1327
BioCentury BCIQCOX4I1
ClinGenCOX4I1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1327
Chemical/Pharm GKB GenePA26781
Clinical trialCOX4I1
Miscellaneous
canSAR (ICR)COX4I1 (select the gene name)
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOX4I1
EVEXCOX4I1
GoPubMedCOX4I1
iHOPCOX4I1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:01:26 CET 2017

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