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COX18 (COX18, cytochrome c oxidase assembly factor)

Identity

Alias_namesCOX18 cytochrome c oxidase assembly homolog (S. cerevisiae)
cytochrome c oxidase assembly homolog 18 (yeast)
Alias_symbol (synonym)FLJ38991
Other aliasCOX18HS
HGNC (Hugo) COX18
LocusID (NCBI) 285521
Atlas_Id 54231
Location 4q13.3  [Link to chromosome band 4q13]
Location_base_pair Starts at 73054696 and ends at 73069759 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
COX18 (4q13.3) / ZFAT (8q24.22)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)COX18   26801
Cards
Entrez_Gene (NCBI)COX18  285521  COX18, cytochrome c oxidase assembly factor
AliasesCOX18HS
GeneCards (Weizmann)COX18
Ensembl hg19 (Hinxton)ENSG00000163626 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163626 [Gene_View]  chr4:73054696-73069759 [Contig_View]  COX18 [Vega]
ICGC DataPortalENSG00000163626
TCGA cBioPortalCOX18
AceView (NCBI)COX18
Genatlas (Paris)COX18
WikiGenes285521
SOURCE (Princeton)COX18
Genetics Home Reference (NIH)COX18
Genomic and cartography
GoldenPath hg38 (UCSC)COX18  -     chr4:73054696-73069759 -  4q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COX18  -     4q13.3   [Description]    (hg19-Feb_2009)
EnsemblCOX18 - 4q13.3 [CytoView hg19]  COX18 - 4q13.3 [CytoView hg38]
Mapping of homologs : NCBICOX18 [Mapview hg19]  COX18 [Mapview hg38]
OMIM610428   
Gene and transcription
Genbank (Entrez)AK092641 AK096310 AM055750 AM055751 AM055752
RefSeq transcript (Entrez)NM_001033760 NM_001297732 NM_001297733 NM_001300729 NM_173827
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COX18
Cluster EST : UnigeneHs.356697 [ NCBI ]
CGAP (NCI)Hs.356697
Alternative Splicing GalleryENSG00000163626
Gene ExpressionCOX18 [ NCBI-GEO ]   COX18 [ EBI - ARRAY_EXPRESS ]   COX18 [ SEEK ]   COX18 [ MEM ]
Gene Expression Viewer (FireBrowse)COX18 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)285521
GTEX Portal (Tissue expression)COX18
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N8Q8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N8Q8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N8Q8
Splice isoforms : SwissVarQ8N8Q8
PhosPhoSitePlusQ8N8Q8
Domains : Interpro (EBI)Membrane_insert_OXA1/ALB3/YidC   
Domain families : Pfam (Sanger)60KD_IMP (PF02096)   
Domain families : Pfam (NCBI)pfam02096   
Conserved Domain (NCBI)COX18
DMDM Disease mutations285521
Blocks (Seattle)COX18
SuperfamilyQ8N8Q8
Human Protein AtlasENSG00000163626
Peptide AtlasQ8N8Q8
HPRD08249
IPIIPI00167538   IPI00815957   IPI00815879   IPI00816055   IPI01018176   
Protein Interaction databases
DIP (DOE-UCLA)Q8N8Q8
IntAct (EBI)Q8N8Q8
FunCoupENSG00000163626
BioGRIDCOX18
STRING (EMBL)COX18
ZODIACCOX18
Ontologies - Pathways
QuickGOQ8N8Q8
Ontology : AmiGOrespiratory chain complex IV assembly  protein transporter activity  protein transport  integral component of mitochondrial inner membrane  protein insertion into mitochondrial membrane  
Ontology : EGO-EBIrespiratory chain complex IV assembly  protein transporter activity  protein transport  integral component of mitochondrial inner membrane  protein insertion into mitochondrial membrane  
NDEx NetworkCOX18
Atlas of Cancer Signalling NetworkCOX18
Wikipedia pathwaysCOX18
Orthology - Evolution
OrthoDB285521
GeneTree (enSembl)ENSG00000163626
Phylogenetic Trees/Animal Genes : TreeFamCOX18
HOVERGENQ8N8Q8
HOGENOMQ8N8Q8
Homologs : HomoloGeneCOX18
Homology/Alignments : Family Browser (UCSC)COX18
Gene fusions - Rearrangements
Fusion : MitelmanCOX18/ZFAT [4q13.3/8q24.22]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOX18 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COX18
dbVarCOX18
ClinVarCOX18
1000_GenomesCOX18 
Exome Variant ServerCOX18
ExAC (Exome Aggregation Consortium)COX18 (select the gene name)
Genetic variants : HAPMAP285521
Genomic Variants (DGV)COX18 [DGVbeta]
DECIPHERCOX18 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOX18 
Mutations
ICGC Data PortalCOX18 
TCGA Data PortalCOX18 
Broad Tumor PortalCOX18
OASIS PortalCOX18 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOX18  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOX18
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 COX18
DgiDB (Drug Gene Interaction Database)COX18
DoCM (Curated mutations)COX18 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COX18 (select a term)
intoGenCOX18
Cancer3DCOX18(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610428   
Orphanet
MedgenCOX18
Genetic Testing Registry COX18
NextProtQ8N8Q8 [Medical]
TSGene285521
GENETestsCOX18
Target ValidationCOX18
Huge Navigator COX18 [HugePedia]
snp3D : Map Gene to Disease285521
BioCentury BCIQCOX18
ClinGenCOX18
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD285521
Chemical/Pharm GKB GenePA145008543
Clinical trialCOX18
Miscellaneous
canSAR (ICR)COX18 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOX18
EVEXCOX18
GoPubMedCOX18
iHOPCOX18
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:29:18 CEST 2017

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