Atlas of Genetics and Cytogenetics in Oncology and Haematology


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OXA1L (oxidase (cytochrome c) assembly 1-like)

Identity

Alias_namesoxidase (cytochrome c) assembly 1-like
Alias_symbol (synonym)MGC133129
OXA1
Other alias
HGNC (Hugo) OXA1L
LocusID (NCBI) 5018
Atlas_Id 47483
Location 14q11.2  [Link to chromosome band 14q11]
Location_base_pair Starts at 23235731 and ends at 23240998 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NPAS3 (14q13.1) / OXA1L (14q11.2)OXA1L (14q11.2) / NCKAP1 (2q32.1)OXA1L (14q11.2) / OXA1L (14q11.2)
OXA1L (14q11.2) / RPL27 (17q21.31)SNAP47 (1q42.13) / OXA1L (14q11.2)

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)OXA1L   8526
Cards
Entrez_Gene (NCBI)OXA1L  5018  oxidase (cytochrome c) assembly 1-like
AliasesOXA1
GeneCards (Weizmann)OXA1L
Ensembl hg19 (Hinxton)ENSG00000155463 [Gene_View]  chr14:23235731-23240998 [Contig_View]  OXA1L [Vega]
Ensembl hg38 (Hinxton)ENSG00000155463 [Gene_View]  chr14:23235731-23240998 [Contig_View]  OXA1L [Vega]
ICGC DataPortalENSG00000155463
TCGA cBioPortalOXA1L
AceView (NCBI)OXA1L
Genatlas (Paris)OXA1L
WikiGenes5018
SOURCE (Princeton)OXA1L
Genetics Home Reference (NIH)OXA1L
Genomic and cartography
GoldenPath hg19 (UCSC)OXA1L  -     chr14:23235731-23240998 +  14q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)OXA1L  -     14q11.2   [Description]    (hg38-Dec_2013)
EnsemblOXA1L - 14q11.2 [CytoView hg19]  OXA1L - 14q11.2 [CytoView hg38]
Mapping of homologs : NCBIOXA1L [Mapview hg19]  OXA1L [Mapview hg38]
OMIM601066   
Gene and transcription
Genbank (Entrez)AK294849 AK298249 BC001669 BC112331 BP303816
RefSeq transcript (Entrez)NM_005015
RefSeq genomic (Entrez)NC_000014 NC_018925 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)OXA1L
Cluster EST : UnigeneHs.151134 [ NCBI ]
CGAP (NCI)Hs.151134
Alternative Splicing GalleryENSG00000155463
Gene ExpressionOXA1L [ NCBI-GEO ]   OXA1L [ EBI - ARRAY_EXPRESS ]   OXA1L [ SEEK ]   OXA1L [ MEM ]
Gene Expression Viewer (FireBrowse)OXA1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5018
GTEX Portal (Tissue expression)OXA1L
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15070   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15070  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15070
Splice isoforms : SwissVarQ15070
PhosPhoSitePlusQ15070
Domains : Interpro (EBI)Membr_insert_YidC/Oxa1_C    Membrane_insert_OXA1/ALB3/YidC   
Domain families : Pfam (Sanger)60KD_IMP (PF02096)   
Domain families : Pfam (NCBI)pfam02096   
Conserved Domain (NCBI)OXA1L
DMDM Disease mutations5018
Blocks (Seattle)OXA1L
SuperfamilyQ15070
Human Protein AtlasENSG00000155463
Peptide AtlasQ15070
HPRD03043
IPIIPI00395015   IPI00395016   IPI00909119   IPI00924786   IPI00014301   IPI00927841   IPI00924559   
Protein Interaction databases
DIP (DOE-UCLA)Q15070
IntAct (EBI)Q15070
FunCoupENSG00000155463
BioGRIDOXA1L
STRING (EMBL)OXA1L
ZODIACOXA1L
Ontologies - Pathways
QuickGOQ15070
Ontology : AmiGOprotein binding  mitochondrion  mitochondrial respiratory chain  protein complex assembly  aerobic respiration  aerobic respiration  mitochondrial membrane  integral component of mitochondrial membrane  negative regulation of ATPase activity  mitochondrial respiratory chain complex I assembly  mitochondrial proton-transporting ATP synthase complex assembly  protein homodimerization activity  protein complex  protein insertion into membrane  protein tetramerization  negative regulation of oxidoreductase activity  oxidation-reduction process  mitochondrial respiratory chain complex I biogenesis  mitochondrial ribosome binding  
Ontology : EGO-EBIprotein binding  mitochondrion  mitochondrial respiratory chain  protein complex assembly  aerobic respiration  aerobic respiration  mitochondrial membrane  integral component of mitochondrial membrane  negative regulation of ATPase activity  mitochondrial respiratory chain complex I assembly  mitochondrial proton-transporting ATP synthase complex assembly  protein homodimerization activity  protein complex  protein insertion into membrane  protein tetramerization  negative regulation of oxidoreductase activity  oxidation-reduction process  mitochondrial respiratory chain complex I biogenesis  mitochondrial ribosome binding  
Pathways : KEGGProtein export   
NDEx NetworkOXA1L
Atlas of Cancer Signalling NetworkOXA1L
Wikipedia pathwaysOXA1L
Orthology - Evolution
OrthoDB5018
GeneTree (enSembl)ENSG00000155463
Phylogenetic Trees/Animal Genes : TreeFamOXA1L
HOVERGENQ15070
HOGENOMQ15070
Homologs : HomoloGeneOXA1L
Homology/Alignments : Family Browser (UCSC)OXA1L
Gene fusions - Rearrangements
Fusion : MitelmanNPAS3/OXA1L [14q13.1/14q11.2]  [t(14;14)(q11;q13)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOXA1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OXA1L
dbVarOXA1L
ClinVarOXA1L
1000_GenomesOXA1L 
Exome Variant ServerOXA1L
ExAC (Exome Aggregation Consortium)OXA1L (select the gene name)
Genetic variants : HAPMAP5018
Genomic Variants (DGV)OXA1L [DGVbeta]
DECIPHER (Syndromes)14:23235731-23240998  ENSG00000155463
CONAN: Copy Number AnalysisOXA1L 
Mutations
ICGC Data PortalOXA1L 
TCGA Data PortalOXA1L 
Broad Tumor PortalOXA1L
OASIS PortalOXA1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOXA1L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOXA1L
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 OXA1L
DgiDB (Drug Gene Interaction Database)OXA1L
DoCM (Curated mutations)OXA1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OXA1L (select a term)
intoGenOXA1L
Cancer3DOXA1L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601066   
Orphanet
MedgenOXA1L
Genetic Testing Registry OXA1L
NextProtQ15070 [Medical]
TSGene5018
GENETestsOXA1L
Huge Navigator OXA1L [HugePedia]
snp3D : Map Gene to Disease5018
BioCentury BCIQOXA1L
ClinGenOXA1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5018
Chemical/Pharm GKB GenePA32854
Clinical trialOXA1L
Miscellaneous
canSAR (ICR)OXA1L (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOXA1L
EVEXOXA1L
GoPubMedOXA1L
iHOPOXA1L
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 : Thu Mar 30 15:13:17 CEST 2017

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