Atlas of Genetics and Cytogenetics in Oncology and Haematology


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COX7A2L (cytochrome c oxidase subunit 7A2 like)

Identity

Alias_namescytochrome c oxidase subunit VIIa polypeptide 2 like
Alias_symbol (synonym)EB1
COX7RP
COX7AR
SIG81
Other alias
HGNC (Hugo) COX7A2L
LocusID (NCBI) 9167
Atlas_Id 40137
Location 2p21  [Link to chromosome band 2p21]
Location_base_pair Starts at 42350496 and ends at 42368957 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)
EML4 (2p21) / COX7A2L (2p21)EML4 2p21 / COX7A2L 2p21

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

TD WIDTH=15%>DIP (DOE-UCLA)
Nomenclature
HGNC (Hugo)COX7A2L   2289
Cards
Entrez_Gene (NCBI)COX7A2L  9167  cytochrome c oxidase subunit 7A2 like
AliasesCOX7AR; COX7RP; EB1; SIG81
GeneCards (Weizmann)COX7A2L
Ensembl hg19 (Hinxton)ENSG00000115944 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115944 [Gene_View]  chr2:42350496-42368957 [Contig_View]  COX7A2L [Vega]
ICGC DataPortalENSG00000115944
TCGA cBioPortalCOX7A2L
AceView (NCBI)COX7A2L
Genatlas (Paris)COX7A2L
WikiGenes9167
SOURCE (Princeton)COX7A2L
Genetics Home Reference (NIH)COX7A2L
Genomic and cartography
GoldenPath hg38 (UCSC)COX7A2L  -     chr2:42350496-42368957 -  2p21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COX7A2L  -     2p21   [Description]    (hg19-Feb_2009)
EnsemblCOX7A2L - 2p21 [CytoView hg19]  COX7A2L - 2p21 [CytoView hg38]
Mapping of homologs : NCBICOX7A2L [Mapview hg19]  COX7A2L [Mapview hg38]
OMIM605771   
Gene and transcription
Genbank (Entrez)AA890657 AB007618 AF127788 AK092911 AK130281
RefSeq transcript (Entrez)NM_001319036 NM_001319037 NM_001319038 NM_001319040 NM_004718
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COX7A2L
Cluster EST : UnigeneHs.744101 [ NCBI ]
CGAP (NCI)Hs.744101
Alternative Splicing GalleryENSG00000115944
Gene ExpressionCOX7A2L [ NCBI-GEO ]   COX7A2L [ EBI - ARRAY_EXPRESS ]   COX7A2L [ SEEK ]   COX7A2L [ MEM ]
Gene Expression Viewer (FireBrowse)COX7A2L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9167
GTEX Portal (Tissue expression)COX7A2L
Human Protein AtlasENSG00000115944-COX7A2L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14548   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14548  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14548
Splice isoforms : SwissVarO14548
PhosPhoSitePlusO14548
Domains : Interpro (EBI)Cyt_c_oxidase_su7a    Cyt_c_oxidase_su7a-rel_mt   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)COX7A2L
DMDM Disease mutations9167
Blocks (Seattle)COX7A2L
SuperfamilyO14548
Human Protein Atlas [tissue]ENSG00000115944-COX7A2L [tissue]
Peptide AtlasO14548
HPRD05774
IPIIPI00022421   IPI00983982   IPI00973712   IPI00974223   
Protein Interaction databases O14548
IntAct (EBI)O14548
FunCoupENSG00000115944
BioGRIDCOX7A2L
STRING (EMBL)COX7A2L
ZODIACCOX7A2L
Ontologies - Pathways
QuickGOO14548
Ontology : AmiGOcytochrome-c oxidase activity  nucleolus  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain  mitochondrial electron transport, cytochrome c to oxygen  hydrogen ion transmembrane transport  
Ontology : EGO-EBIcytochrome-c oxidase activity  nucleolus  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain  mitochondrial electron transport, cytochrome c to oxygen  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 NetworkCOX7A2L
Atlas of Cancer Signalling NetworkCOX7A2L
Wikipedia pathwaysCOX7A2L
Orthology - Evolution
OrthoDB9167
GeneTree (enSembl)ENSG00000115944
Phylogenetic Trees/Animal Genes : TreeFamCOX7A2L
HOVERGENO14548
HOGENOMO14548
Homologs : HomoloGeneCOX7A2L
Homology/Alignments : Family Browser (UCSC)COX7A2L
Gene fusions - Rearrangements
Fusion: TCGA_MDACCEML4 2p21 COX7A2L 2p21 BRCA
Tumor Fusion PortalCOX7A2L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOX7A2L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COX7A2L
dbVarCOX7A2L
ClinVarCOX7A2L
1000_GenomesCOX7A2L 
Exome Variant ServerCOX7A2L
ExAC (Exome Aggregation Consortium)ENSG00000115944
GNOMAD BrowserENSG00000115944
Genetic variants : HAPMAP9167
Genomic Variants (DGV)COX7A2L [DGVbeta]
DECIPHERCOX7A2L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOX7A2L 
Mutations
ICGC Data PortalCOX7A2L 
TCGA Data PortalCOX7A2L 
Broad Tumor PortalCOX7A2L
OASIS PortalCOX7A2L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOX7A2L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOX7A2L
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 COX7A2L
DgiDB (Drug Gene Interaction Database)COX7A2L
DoCM (Curated mutations)COX7A2L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COX7A2L (select a term)
intoGenCOX7A2L
Cancer3DCOX7A2L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605771   
Orphanet
DisGeNETCOX7A2L
MedgenCOX7A2L
Genetic Testing Registry COX7A2L
NextProtO14548 [Medical]
TSGene9167
GENETestsCOX7A2L
Target ValidationCOX7A2L
Huge Navigator COX7A2L [HugePedia]
snp3D : Map Gene to Disease9167
BioCentury BCIQCOX7A2L
ClinGenCOX7A2L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9167
Chemical/Pharm GKB GenePA26807
Clinical trialCOX7A2L
Miscellaneous
canSAR (ICR)COX7A2L (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOX7A2L
EVEXCOX7A2L
GoPubMedCOX7A2L
iHOPCOX7A2L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:08:44 CET 2017

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