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NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6)

Identity

Alias_namesC8orf38
chromosome 8 open reading frame 38
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
Alias_symbol (synonym)MGC40214
Other alias
HGNC (Hugo) NDUFAF6
LocusID (NCBI) 137682
Atlas_Id 54494
Location 8q22.1  [Link to chromosome band 8q22]
Location_base_pair Starts at 96037214 and ends at 96070944 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ADAP1 (7p22.3) / NDUFAF6 (8q22.1)ARHGEF3 (3p14.3) / NDUFAF6 (8q22.1)CMBL (5p15.2) / NDUFAF6 (8q22.1)
GMPR (6p22.3) / NDUFAF6 (8q22.1)PLEKHF2 (8q22.1) / NDUFAF6 (8q22.1)

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

 


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


External links

Nomenclature
HGNC (Hugo)NDUFAF6   28625
Cards
Entrez_Gene (NCBI)NDUFAF6  137682  NADH:ubiquinone oxidoreductase complex assembly factor 6
AliasesC8orf38
GeneCards (Weizmann)NDUFAF6
Ensembl hg19 (Hinxton)ENSG00000156170 [Gene_View]  chr8:96037214-96070944 [Contig_View]  NDUFAF6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000156170 [Gene_View]  chr8:96037214-96070944 [Contig_View]  NDUFAF6 [Vega]
ICGC DataPortalENSG00000156170
TCGA cBioPortalNDUFAF6
AceView (NCBI)NDUFAF6
Genatlas (Paris)NDUFAF6
WikiGenes137682
SOURCE (Princeton)NDUFAF6
Genetics Home Reference (NIH)NDUFAF6
Genomic and cartography
GoldenPath hg19 (UCSC)NDUFAF6  -     chr8:96037214-96070944 +  8q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NDUFAF6  -     8q22.1   [Description]    (hg38-Dec_2013)
EnsemblNDUFAF6 - 8q22.1 [CytoView hg19]  NDUFAF6 - 8q22.1 [CytoView hg38]
Mapping of homologs : NCBINDUFAF6 [Mapview hg19]  NDUFAF6 [Mapview hg38]
OMIM256000   612392   
Gene and transcription
Genbank (Entrez)AA489642 AA625387 AK298631 AK301414 AY444560
RefSeq transcript (Entrez)NM_152416
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_016647 NT_008046 NW_004929340
Consensus coding sequences : CCDS (NCBI)NDUFAF6
Cluster EST : UnigeneHs.729144 [ NCBI ]
CGAP (NCI)Hs.729144
Alternative Splicing GalleryENSG00000156170
Gene ExpressionNDUFAF6 [ NCBI-GEO ]   NDUFAF6 [ EBI - ARRAY_EXPRESS ]   NDUFAF6 [ SEEK ]   NDUFAF6 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFAF6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)137682
GTEX Portal (Tissue expression)NDUFAF6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ330K2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ330K2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ330K2
Splice isoforms : SwissVarQ330K2
PhosPhoSitePlusQ330K2
Domains : Interpro (EBI)Isoprenoid_synthase_dom    Squ/phyt_synthse   
Domain families : Pfam (Sanger)SQS_PSY (PF00494)   
Domain families : Pfam (NCBI)pfam00494   
Conserved Domain (NCBI)NDUFAF6
DMDM Disease mutations137682
Blocks (Seattle)NDUFAF6
SuperfamilyQ330K2
Human Protein AtlasENSG00000156170
Peptide AtlasQ330K2
HPRD17553
IPIIPI00852983   IPI00847930   IPI00889748   IPI00909221   IPI00984806   IPI01015304   IPI00982365   IPI00981719   IPI00984077   IPI00980120   IPI00984706   IPI00979434   IPI00981049   
Protein Interaction databases
DIP (DOE-UCLA)Q330K2
IntAct (EBI)Q330K2
FunCoupENSG00000156170
BioGRIDNDUFAF6
STRING (EMBL)NDUFAF6
ZODIACNDUFAF6
Ontologies - Pathways
QuickGOQ330K2
Ontology : AmiGOnucleus  nucleus  cytoplasm  mitochondrial inner membrane  mitochondrial inner membrane  biosynthetic process  transferase activity  mitochondrial respiratory chain complex I assembly  mitochondrial respiratory chain complex I assembly  
Ontology : EGO-EBInucleus  nucleus  cytoplasm  mitochondrial inner membrane  mitochondrial inner membrane  biosynthetic process  transferase activity  mitochondrial respiratory chain complex I assembly  mitochondrial respiratory chain complex I assembly  
NDEx NetworkNDUFAF6
Atlas of Cancer Signalling NetworkNDUFAF6
Wikipedia pathwaysNDUFAF6
Orthology - Evolution
OrthoDB137682
GeneTree (enSembl)ENSG00000156170
Phylogenetic Trees/Animal Genes : TreeFamNDUFAF6
HOVERGENQ330K2
HOGENOMQ330K2
Homologs : HomoloGeneNDUFAF6
Homology/Alignments : Family Browser (UCSC)NDUFAF6
Gene fusions - Rearrangements
Fusion : MitelmanADAP1/NDUFAF6 [7p22.3/8q22.1]  [t(7;8)(p22;q22)]  
Fusion : MitelmanARHGEF3/NDUFAF6 [3p14.3/8q22.1]  [t(3;8)(p14;q22)]  
Fusion : MitelmanCMBL/NDUFAF6 [5p15.2/8q22.1]  [t(5;8)(p15;q22)]  
Fusion : MitelmanGMPR/NDUFAF6 [6p22.3/8q22.1]  [t(6;8)(p22;q22)]  
Fusion : MitelmanPLEKHF2/NDUFAF6 [8q22.1/8q22.1]  [t(8;8)(q22;q22)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFAF6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFAF6
dbVarNDUFAF6
ClinVarNDUFAF6
1000_GenomesNDUFAF6 
Exome Variant ServerNDUFAF6
ExAC (Exome Aggregation Consortium)NDUFAF6 (select the gene name)
Genetic variants : HAPMAP137682
Genomic Variants (DGV)NDUFAF6 [DGVbeta]
DECIPHER (Syndromes)8:96037214-96070944  ENSG00000156170
CONAN: Copy Number AnalysisNDUFAF6 
Mutations
ICGC Data PortalNDUFAF6 
TCGA Data PortalNDUFAF6 
Broad Tumor PortalNDUFAF6
OASIS PortalNDUFAF6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFAF6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNDUFAF6
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 NDUFAF6
DgiDB (Drug Gene Interaction Database)NDUFAF6
DoCM (Curated mutations)NDUFAF6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFAF6 (select a term)
intoGenNDUFAF6
Cancer3DNDUFAF6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM256000    612392   
Orphanet19814   
MedgenNDUFAF6
Genetic Testing Registry NDUFAF6
NextProtQ330K2 [Medical]
TSGene137682
GENETestsNDUFAF6
Huge Navigator NDUFAF6 [HugePedia]
snp3D : Map Gene to Disease137682
BioCentury BCIQNDUFAF6
ClinGenNDUFAF6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD137682
Chemical/Pharm GKB GenePA142672357
Clinical trialNDUFAF6
Miscellaneous
canSAR (ICR)NDUFAF6 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFAF6
EVEXNDUFAF6
GoPubMedNDUFAF6
iHOPNDUFAF6
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 13:18:29 CET 2017

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