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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 aliasFRTS5
MC1DN17
HGNC (Hugo) NDUFAF6
LocusID (NCBI) 137682
Atlas_Id 54494
Location 8q22.1  [Link to chromosome band 8q22]
Location_base_pair Starts at 95024989 and ends at 95058710 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)
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) [ 5 ]
  Lung: Translocations in Adenocarcinoma
t(3;8)(p14;q22) ARHGEF3/NDUFAF6
t(6;8)(p22;q22) GMPR/NDUFAF6
t(7;8)(p22;q22) ADAP1/NDUFAF6
PLEKHF2/NDUFAF6 (8q22)


External links

Nomenclature
HGNC (Hugo)NDUFAF6   28625
Cards
Entrez_Gene (NCBI)NDUFAF6  137682  NADH:ubiquinone oxidoreductase complex assembly factor 6
AliasesC8orf38; FRTS5; MC1DN17
GeneCards (Weizmann)NDUFAF6
Ensembl hg19 (Hinxton)ENSG00000156170 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000156170 [Gene_View]  ENSG00000156170 [Sequence]  chr8:95024989-95058710 [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 hg38 (UCSC)NDUFAF6  -     chr8:95024989-95058710 +  8q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NDUFAF6  -     8q22.1   [Description]    (hg19-Feb_2009)
GoldenPathNDUFAF6 - 8q22.1 [CytoView hg19]  NDUFAF6 - 8q22.1 [CytoView hg38]
Genome Data Viewer NCBINDUFAF6 [Mapview hg19]  
OMIM612392   618239   618913   
Gene and transcription
Genbank (Entrez)AA489642 AA625387 AK074467 AK298631 AK301414
RefSeq transcript (Entrez)NM_001330582 NM_001354514 NM_001354515 NM_001354516 NM_001354517 NM_001354518 NM_001354519 NM_001354521 NM_001354522 NM_001354524 NM_001354525 NM_001354527 NM_001354528 NM_001354529 NM_001354530 NM_001354531 NM_001354532 NM_001354533 NM_001354534 NM_152416
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NDUFAF6
Alternative Splicing GalleryENSG00000156170
Gene ExpressionNDUFAF6 [ NCBI-GEO ]   NDUFAF6 [ EBI - ARRAY_EXPRESS ]   NDUFAF6 [ SEEK ]   NDUFAF6 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFAF6 [ Firebrowse - Broad ]
GenevisibleExpression of NDUFAF6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)137682
GTEX Portal (Tissue expression)NDUFAF6
Human Protein AtlasENSG00000156170-NDUFAF6 [pathology]   [cell]   [tissue]
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_sf   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)NDUFAF6
DMDM Disease mutations137682
SuperfamilyQ330K2
Human Protein Atlas [tissue]ENSG00000156170-NDUFAF6 [tissue]
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  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial respiratory chain complex I assembly  mitochondrial respiratory chain complex I assembly  mitochondrial respiratory chain complex I assembly  
Ontology : EGO-EBInucleus  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial respiratory chain complex I assembly  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
HOGENOMQ330K2
Homologs : HomoloGeneNDUFAF6
Homology/Alignments : Family Browser (UCSC)NDUFAF6
Gene fusions - Rearrangements
Fusion : MitelmanADAP1/NDUFAF6 [7p22.3/8q22.1]  
Fusion : MitelmanARHGEF3/NDUFAF6 [3p14.3/8q22.1]  
Fusion : MitelmanCMBL/NDUFAF6 [5p15.2/8q22.1]  
Fusion : MitelmanGMPR/NDUFAF6 [6p22.3/8q22.1]  
Fusion : MitelmanPLEKHF2/NDUFAF6 [8q22.1/8q22.1]  
Fusion : QuiverNDUFAF6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFAF6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFAF6
dbVarNDUFAF6
ClinVarNDUFAF6
1000_GenomesNDUFAF6 
Exome Variant ServerNDUFAF6
GNOMAD BrowserENSG00000156170
Varsome BrowserNDUFAF6
Genetic variants : HAPMAP137682
Genomic Variants (DGV)NDUFAF6 [DGVbeta]
DECIPHERNDUFAF6 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DNDUFAF6
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
BioMutaselect 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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612392    618239    618913   
Orphanet19814   
DisGeNETNDUFAF6
MedgenNDUFAF6
Genetic Testing Registry NDUFAF6
NextProtQ330K2 [Medical]
TSGene137682
GENETestsNDUFAF6
Open Targets GeneticsENSG00000156170  [validation]
snp3D : Map Gene to Disease137682
BioCentury BCIQNDUFAF6
ClinGenNDUFAF6
Clinical trials, drugs, therapy
Protein Interactions : CTD137682
Pharm GKB GenePA142672357
Clinical trialNDUFAF6
Miscellaneous
canSAR (ICR)NDUFAF6 (select the gene name)
HarmonizomeNDUFAF6
DataMed IndexNDUFAF6
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFAF6
EVEXNDUFAF6
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 : Sat Jul 11 20:01:59 CEST 2020

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