Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1)

Identity

Alias_namesNADH dehydrogenase (ubiquinone) complex I
Alias_symbol (synonym)CIA30
CGI-65
Other aliasCGI65
HGNC (Hugo) NDUFAF1
LocusID (NCBI) 51103
Atlas_Id 55596
Location 15q15.1  [Link to chromosome band 15q15]
Location_base_pair Starts at 41387349 and ends at 41402460 bp from pter ( according to hg38-Dec_2013)

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)NDUFAF1   18828
Cards
Entrez_Gene (NCBI)NDUFAF1  51103  NADH:ubiquinone oxidoreductase complex assembly factor 1
AliasesCGI-65; CGI65; CIA30
GeneCards (Weizmann)NDUFAF1
Ensembl hg19 (Hinxton)ENSG00000137806 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000137806 [Gene_View]  chr15:41387349-41402460 [Contig_View]  NDUFAF1 [Vega]
ICGC DataPortalENSG00000137806
TCGA cBioPortalNDUFAF1
AceView (NCBI)NDUFAF1
Genatlas (Paris)NDUFAF1
WikiGenes51103
SOURCE (Princeton)NDUFAF1
Genetics Home Reference (NIH)NDUFAF1
Genomic and cartography
GoldenPath hg38 (UCSC)NDUFAF1  -     chr15:41387349-41402460 -  15q15.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NDUFAF1  -     15q15.1   [Description]    (hg19-Feb_2009)
EnsemblNDUFAF1 - 15q15.1 [CytoView hg19]  NDUFAF1 - 15q15.1 [CytoView hg38]
Mapping of homologs : NCBINDUFAF1 [Mapview hg19]  NDUFAF1 [Mapview hg38]
OMIM252010   606934   
Gene and transcription
Genbank (Entrez)AF151823 AI911511 AK309889 AK310983 BC000780
RefSeq transcript (Entrez)NM_016013
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NDUFAF1
Cluster EST : UnigeneHs.106529 [ NCBI ]
CGAP (NCI)Hs.106529
Alternative Splicing GalleryENSG00000137806
Gene ExpressionNDUFAF1 [ NCBI-GEO ]   NDUFAF1 [ EBI - ARRAY_EXPRESS ]   NDUFAF1 [ SEEK ]   NDUFAF1 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFAF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51103
GTEX Portal (Tissue expression)NDUFAF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y375   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y375  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y375
Splice isoforms : SwissVarQ9Y375
PhosPhoSitePlusQ9Y375
Domains : Interpro (EBI)Galactose-bd-like    NADH-UbQ_OxRdtase-assoc_prot30   
Domain families : Pfam (Sanger)CIA30 (PF08547)   
Domain families : Pfam (NCBI)pfam08547   
Conserved Domain (NCBI)NDUFAF1
DMDM Disease mutations51103
Blocks (Seattle)NDUFAF1
SuperfamilyQ9Y375
Human Protein AtlasENSG00000137806
Peptide AtlasQ9Y375
HPRD09500
IPIIPI00032560   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y375
IntAct (EBI)Q9Y375
FunCoupENSG00000137806
BioGRIDNDUFAF1
STRING (EMBL)NDUFAF1
ZODIACNDUFAF1
Ontologies - Pathways
QuickGOQ9Y375
Ontology : AmiGOprotein binding  mitochondrial inner membrane  mitochondrial respiratory chain complex I  cytosol  mitochondrial electron transport, NADH to ubiquinone  protein complex assembly  mitochondrial respiratory chain complex I assembly  unfolded protein binding  
Ontology : EGO-EBIprotein binding  mitochondrial inner membrane  mitochondrial respiratory chain complex I  cytosol  mitochondrial electron transport, NADH to ubiquinone  protein complex assembly  mitochondrial respiratory chain complex I assembly  unfolded protein binding  
NDEx NetworkNDUFAF1
Atlas of Cancer Signalling NetworkNDUFAF1
Wikipedia pathwaysNDUFAF1
Orthology - Evolution
OrthoDB51103
GeneTree (enSembl)ENSG00000137806
Phylogenetic Trees/Animal Genes : TreeFamNDUFAF1
HOVERGENQ9Y375
HOGENOMQ9Y375
Homologs : HomoloGeneNDUFAF1
Homology/Alignments : Family Browser (UCSC)NDUFAF1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFAF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFAF1
dbVarNDUFAF1
ClinVarNDUFAF1
1000_GenomesNDUFAF1 
Exome Variant ServerNDUFAF1
ExAC (Exome Aggregation Consortium)NDUFAF1 (select the gene name)
Genetic variants : HAPMAP51103
Genomic Variants (DGV)NDUFAF1 [DGVbeta]
DECIPHERNDUFAF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNDUFAF1 
Mutations
ICGC Data PortalNDUFAF1 
TCGA Data PortalNDUFAF1 
Broad Tumor PortalNDUFAF1
OASIS PortalNDUFAF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFAF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNDUFAF1
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 NDUFAF1
DgiDB (Drug Gene Interaction Database)NDUFAF1
DoCM (Curated mutations)NDUFAF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFAF1 (select a term)
intoGenNDUFAF1
Cancer3DNDUFAF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM252010    606934   
Orphanet369    20735   
MedgenNDUFAF1
Genetic Testing Registry NDUFAF1
NextProtQ9Y375 [Medical]
TSGene51103
GENETestsNDUFAF1
Huge Navigator NDUFAF1 [HugePedia]
snp3D : Map Gene to Disease51103
BioCentury BCIQNDUFAF1
ClinGenNDUFAF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51103
Chemical/Pharm GKB GenePA134934729
Clinical trialNDUFAF1
Miscellaneous
canSAR (ICR)NDUFAF1 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFAF1
EVEXNDUFAF1
GoPubMedNDUFAF1
iHOPNDUFAF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:28:17 CEST 2017

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