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NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4)

Identity

Alias_namesC6orf66
chromosome 6 open reading frame 66
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
Alias_symbol (synonym)HSPC125
bA22L21.1
My013
HRPAP20
Other alias
HGNC (Hugo) NDUFAF4
LocusID (NCBI) 29078
Atlas_Id 50807
Location 6q16.1  [Link to chromosome band 6q16]
Location_base_pair Starts at 96889311 and ends at 96897891 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CHKA (11q13.2) / NDUFAF4 (6q16.1)NDUFAF4 (6q16.1) / CCDC47 (17q23.3)NDUFAF4 (6q16.1) / NDUFAF4 (6q16.1)

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)NDUFAF4   21034
Cards
Entrez_Gene (NCBI)NDUFAF4  29078  NADH:ubiquinone oxidoreductase complex assembly factor 4
AliasesC6orf66; HRPAP20; HSPC125; My013; 
bA22L21.1
GeneCards (Weizmann)NDUFAF4
Ensembl hg19 (Hinxton)ENSG00000123545 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123545 [Gene_View]  chr6:96889311-96897891 [Contig_View]  NDUFAF4 [Vega]
ICGC DataPortalENSG00000123545
TCGA cBioPortalNDUFAF4
AceView (NCBI)NDUFAF4
Genatlas (Paris)NDUFAF4
WikiGenes29078
SOURCE (Princeton)NDUFAF4
Genetics Home Reference (NIH)NDUFAF4
Genomic and cartography
GoldenPath hg38 (UCSC)NDUFAF4  -     chr6:96889311-96897891 -  6q16.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NDUFAF4  -     6q16.1   [Description]    (hg19-Feb_2009)
EnsemblNDUFAF4 - 6q16.1 [CytoView hg19]  NDUFAF4 - 6q16.1 [CytoView hg38]
Mapping of homologs : NCBINDUFAF4 [Mapview hg19]  NDUFAF4 [Mapview hg38]
OMIM252010   611776   
Gene and transcription
Genbank (Entrez)AF060508 AF161474 AK026245 AK311850 BC018802
RefSeq transcript (Entrez)NM_014165
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NDUFAF4
Cluster EST : UnigeneHs.512144 [ NCBI ]
CGAP (NCI)Hs.512144
Alternative Splicing GalleryENSG00000123545
Gene ExpressionNDUFAF4 [ NCBI-GEO ]   NDUFAF4 [ EBI - ARRAY_EXPRESS ]   NDUFAF4 [ SEEK ]   NDUFAF4 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFAF4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29078
GTEX Portal (Tissue expression)NDUFAF4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P032   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P032  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P032
Splice isoforms : SwissVarQ9P032
PhosPhoSitePlusQ9P032
Domains : Interpro (EBI)NDUFAF4   
Domain families : Pfam (Sanger)UPF0240 (PF06784)   
Domain families : Pfam (NCBI)pfam06784   
Domain structure : Prodom (Prabi Lyon)UPF0240 (PD339506)   
Conserved Domain (NCBI)NDUFAF4
DMDM Disease mutations29078
Blocks (Seattle)NDUFAF4
SuperfamilyQ9P032
Human Protein AtlasENSG00000123545
Peptide AtlasQ9P032
HPRD10795
IPIIPI00023064   
Protein Interaction databases
DIP (DOE-UCLA)Q9P032
IntAct (EBI)Q9P032
FunCoupENSG00000123545
BioGRIDNDUFAF4
STRING (EMBL)NDUFAF4
ZODIACNDUFAF4
Ontologies - Pathways
QuickGOQ9P032
Ontology : AmiGOprotein binding  calmodulin binding  mitochondrion  mitochondrial inner membrane  mitochondrial membrane  mitochondrial respiratory chain complex I assembly  mitochondrial respiratory chain complex I assembly  
Ontology : EGO-EBIprotein binding  calmodulin binding  mitochondrion  mitochondrial inner membrane  mitochondrial membrane  mitochondrial respiratory chain complex I assembly  mitochondrial respiratory chain complex I assembly  
NDEx NetworkNDUFAF4
Atlas of Cancer Signalling NetworkNDUFAF4
Wikipedia pathwaysNDUFAF4
Orthology - Evolution
OrthoDB29078
GeneTree (enSembl)ENSG00000123545
Phylogenetic Trees/Animal Genes : TreeFamNDUFAF4
HOVERGENQ9P032
HOGENOMQ9P032
Homologs : HomoloGeneNDUFAF4
Homology/Alignments : Family Browser (UCSC)NDUFAF4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFAF4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFAF4
dbVarNDUFAF4
ClinVarNDUFAF4
1000_GenomesNDUFAF4 
Exome Variant ServerNDUFAF4
ExAC (Exome Aggregation Consortium)NDUFAF4 (select the gene name)
Genetic variants : HAPMAP29078
Genomic Variants (DGV)NDUFAF4 [DGVbeta]
DECIPHERNDUFAF4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNDUFAF4 
Mutations
ICGC Data PortalNDUFAF4 
TCGA Data PortalNDUFAF4 
Broad Tumor PortalNDUFAF4
OASIS PortalNDUFAF4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFAF4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNDUFAF4
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 NDUFAF4
DgiDB (Drug Gene Interaction Database)NDUFAF4
DoCM (Curated mutations)NDUFAF4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFAF4 (select a term)
intoGenNDUFAF4
Cancer3DNDUFAF4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM252010    611776   
Orphanet369   
MedgenNDUFAF4
Genetic Testing Registry NDUFAF4
NextProtQ9P032 [Medical]
TSGene29078
GENETestsNDUFAF4
Target ValidationNDUFAF4
Huge Navigator NDUFAF4 [HugePedia]
snp3D : Map Gene to Disease29078
BioCentury BCIQNDUFAF4
ClinGenNDUFAF4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29078
Chemical/Pharm GKB GenePA164723808
Clinical trialNDUFAF4
Miscellaneous
canSAR (ICR)NDUFAF4 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFAF4
EVEXNDUFAF4
GoPubMedNDUFAF4
iHOPNDUFAF4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:46:29 CEST 2017

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