Atlas of Genetics and Cytogenetics in Oncology and Haematology

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NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6)

Identity

Alias_namesNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa
Alias_symbol (synonym)B14
LYRM6
CI-B14
NADHB14
Other aliasMC1DN33
HGNC (Hugo) NDUFA6
LocusID (NCBI) 4700
Atlas_Id 70759
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 42085526 and ends at 42090772 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)
ARF3 (12q13.12) / NDUFA6 (22q13.2)CA12 (15q22.2) / NDUFA6 (22q13.2)NDUFA6 (22q13.2) / YARS (1p35.1)

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)NDUFA6   7690
Cards
Entrez_Gene (NCBI)NDUFA6  4700  NADH:ubiquinone oxidoreductase subunit A6
AliasesB14; CI-B14; LYRM6; MC1DN33; 
NADHB14
GeneCards (Weizmann)NDUFA6
Ensembl hg19 (Hinxton)ENSG00000184983 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184983 [Gene_View]  ENSG00000184983 [Sequence]  chr22:42085526-42090772 [Contig_View]  NDUFA6 [Vega]
ICGC DataPortalENSG00000184983
TCGA cBioPortalNDUFA6
AceView (NCBI)NDUFA6
Genatlas (Paris)NDUFA6
WikiGenes4700
SOURCE (Princeton)NDUFA6
Genetics Home Reference (NIH)NDUFA6
Genomic and cartography
GoldenPath hg38 (UCSC)NDUFA6  -     chr22:42085526-42090772 -  22q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NDUFA6  -     22q13.2   [Description]    (hg19-Feb_2009)
GoldenPathNDUFA6 - 22q13.2 [CytoView hg19]  NDUFA6 - 22q13.2 [CytoView hg38]
ImmunoBaseENSG00000184983
Mapping of homologs : NCBINDUFA6 [Mapview hg19]  NDUFA6 [Mapview hg38]
OMIM602138   618253   
Gene and transcription
Genbank (Entrez)AF047182 AK291874 AK316562 BC002772 BG706090
RefSeq transcript (Entrez)NM_002490
RefSeq genomic (Entrez)NC_000022 NG_051973 NT_187682 NW_003315971 NW_004504305 NW_009646207
Consensus coding sequences : CCDS (NCBI)NDUFA6
Alternative Splicing GalleryENSG00000184983
Gene ExpressionNDUFA6 [ NCBI-GEO ]   NDUFA6 [ EBI - ARRAY_EXPRESS ]   NDUFA6 [ SEEK ]   NDUFA6 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFA6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4700
GTEX Portal (Tissue expression)NDUFA6
Human Protein AtlasENSG00000184983-NDUFA6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP56556   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP56556  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP56556
Splice isoforms : SwissVarP56556
PhosPhoSitePlusP56556
Domains : Interpro (EBI)Complex1_LYR    NADH_Ub_cplx-1_asu_su-6   
Domain families : Pfam (Sanger)Complex1_LYR (PF05347)   
Domain families : Pfam (NCBI)pfam05347   
Conserved Domain (NCBI)NDUFA6
DMDM Disease mutations4700
Blocks (Seattle)NDUFA6
PDB (RSDB)5XTB    5XTD    5XTH    5XTI   
PDB Europe5XTB    5XTD    5XTH    5XTI   
PDB (PDBSum)5XTB    5XTD    5XTH    5XTI   
PDB (IMB)5XTB    5XTD    5XTH    5XTI   
Structural Biology KnowledgeBase5XTB    5XTD    5XTH    5XTI   
SCOP (Structural Classification of Proteins)5XTB    5XTD    5XTH    5XTI   
CATH (Classification of proteins structures)5XTB    5XTD    5XTH    5XTI   
SuperfamilyP56556
Human Protein Atlas [tissue]ENSG00000184983-NDUFA6 [tissue]
Peptide AtlasP56556
HPRD11884
IPIIPI00945153   
Protein Interaction databases
DIP (DOE-UCLA)P56556
IntAct (EBI)P56556
FunCoupENSG00000184983
BioGRIDNDUFA6
STRING (EMBL)NDUFA6
ZODIACNDUFA6
Ontologies - Pathways
QuickGOP56556
Ontology : AmiGOmitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  response to oxidative stress  response to oxidative stress  NADH dehydrogenase (ubiquinone) activity  mitochondrial membrane  mitochondrial respiratory chain complex I assembly  mitochondrial respiratory chain complex I assembly  
Ontology : EGO-EBImitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  response to oxidative stress  response to oxidative stress  NADH dehydrogenase (ubiquinone) activity  mitochondrial membrane  mitochondrial respiratory chain complex I assembly  mitochondrial respiratory chain complex I assembly  
Pathways : KEGGOxidative phosphorylation   
NDEx NetworkNDUFA6
Atlas of Cancer Signalling NetworkNDUFA6
Wikipedia pathwaysNDUFA6
Orthology - Evolution
OrthoDB4700
GeneTree (enSembl)ENSG00000184983
Phylogenetic Trees/Animal Genes : TreeFamNDUFA6
HOGENOMP56556
Homologs : HomoloGeneNDUFA6
Homology/Alignments : Family Browser (UCSC)NDUFA6
Gene fusions - Rearrangements
Fusion : QuiverNDUFA6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFA6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFA6
dbVarNDUFA6
ClinVarNDUFA6
1000_GenomesNDUFA6 
Exome Variant ServerNDUFA6
ExAC (Exome Aggregation Consortium)ENSG00000184983
GNOMAD BrowserENSG00000184983
Varsome BrowserNDUFA6
Genetic variants : HAPMAP4700
Genomic Variants (DGV)NDUFA6 [DGVbeta]
DECIPHERNDUFA6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNDUFA6 
Mutations
ICGC Data PortalNDUFA6 
TCGA Data PortalNDUFA6 
Broad Tumor PortalNDUFA6
OASIS PortalNDUFA6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFA6  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNDUFA6
Mutations and Diseases : HGMDNDUFA6
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 NDUFA6
DgiDB (Drug Gene Interaction Database)NDUFA6
DoCM (Curated mutations)NDUFA6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFA6 (select a term)
intoGenNDUFA6
Cancer3DNDUFA6(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602138    618253   
Orphanet
DisGeNETNDUFA6
MedgenNDUFA6
Genetic Testing Registry NDUFA6
NextProtP56556 [Medical]
TSGene4700
GENETestsNDUFA6
Target ValidationNDUFA6
Huge Navigator NDUFA6 [HugePedia]
snp3D : Map Gene to Disease4700
BioCentury BCIQNDUFA6
ClinGenNDUFA6
Clinical trials, drugs, therapy
Protein Interactions : CTD4700
Pharm GKB GenePA31496
Clinical trialNDUFA6
Miscellaneous
canSAR (ICR)NDUFA6 (select the gene name)
HarmonizomeNDUFA6
DataMed IndexNDUFA6
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFA6
EVEXNDUFA6
GoPubMedNDUFA6
iHOPNDUFA6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Jun 30 19:55:43 CEST 2020
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