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NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5)

Identity

Alias_namesC20orf7
chromosome 20 open reading frame 7
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
Alias_symbol (synonym)dJ842G6.1
Other aliasMC1DN16
bA526K24.2
HGNC (Hugo) NDUFAF5
LocusID (NCBI) 79133
Atlas_Id 70768
Location 20p12.1  [Link to chromosome band 20p12]
Location_base_pair Starts at 13785026 and ends at 13818421 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)
NDUFAF5 (20p12.1) / TMEM106C (12q13.11)

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)NDUFAF5   15899
Cards
Entrez_Gene (NCBI)NDUFAF5  79133  NADH:ubiquinone oxidoreductase complex assembly factor 5
AliasesC20orf7; MC1DN16; bA526K24.2; dJ842G6.1
GeneCards (Weizmann)NDUFAF5
Ensembl hg19 (Hinxton)ENSG00000101247 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101247 [Gene_View]  ENSG00000101247 [Sequence]  chr20:13785026-13818421 [Contig_View]  NDUFAF5 [Vega]
ICGC DataPortalENSG00000101247
TCGA cBioPortalNDUFAF5
AceView (NCBI)NDUFAF5
Genatlas (Paris)NDUFAF5
WikiGenes79133
SOURCE (Princeton)NDUFAF5
Genetics Home Reference (NIH)NDUFAF5
Genomic and cartography
GoldenPath hg38 (UCSC)NDUFAF5  -     chr20:13785026-13818421 +  20p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NDUFAF5  -     20p12.1   [Description]    (hg19-Feb_2009)
GoldenPathNDUFAF5 - 20p12.1 [CytoView hg19]  NDUFAF5 - 20p12.1 [CytoView hg38]
ImmunoBaseENSG00000101247
Mapping of homologs : NCBINDUFAF5 [Mapview hg19]  NDUFAF5 [Mapview hg38]
OMIM612360   618238   
Gene and transcription
Genbank (Entrez)AA252680 AA789132 AK025977 AK091060 AK289781
RefSeq transcript (Entrez)NM_001039375 NM_001352403 NM_001352406 NM_001352407 NM_001352408 NM_024120 NM_199052
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NDUFAF5
Cluster EST : UnigeneHs.472165 [ NCBI ]
CGAP (NCI)Hs.472165
Alternative Splicing GalleryENSG00000101247
Gene ExpressionNDUFAF5 [ NCBI-GEO ]   NDUFAF5 [ EBI - ARRAY_EXPRESS ]   NDUFAF5 [ SEEK ]   NDUFAF5 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFAF5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79133
GTEX Portal (Tissue expression)NDUFAF5
Human Protein AtlasENSG00000101247-NDUFAF5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5TEU4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5TEU4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5TEU4
Splice isoforms : SwissVarQ5TEU4
PhosPhoSitePlusQ5TEU4
Domains : Interpro (EBI)Methyltransf_11    SAM-dependent_MTases   
Domain families : Pfam (Sanger)Methyltransf_11 (PF08241)   
Domain families : Pfam (NCBI)pfam08241   
Conserved Domain (NCBI)NDUFAF5
DMDM Disease mutations79133
Blocks (Seattle)NDUFAF5
SuperfamilyQ5TEU4
Human Protein Atlas [tissue]ENSG00000101247-NDUFAF5 [tissue]
Peptide AtlasQ5TEU4
HPRD12780
IPIIPI00106573   IPI00644146   IPI00976833   
Protein Interaction databases
DIP (DOE-UCLA)Q5TEU4
IntAct (EBI)Q5TEU4
FunCoupENSG00000101247
BioGRIDNDUFAF5
STRING (EMBL)NDUFAF5
ZODIACNDUFAF5
Ontologies - Pathways
QuickGOQ5TEU4
Ontology : AmiGOmolecular_function  protein binding  mitochondrion  mitochondrial inner membrane  methyltransferase activity  oxidoreductase activity  peptidyl-arginine hydroxylation  extrinsic component of mitochondrial inner membrane  methylation  mitochondrial respiratory chain complex I assembly  mitochondrial respiratory chain complex I assembly  oxidation-reduction process  
Ontology : EGO-EBImolecular_function  protein binding  mitochondrion  mitochondrial inner membrane  methyltransferase activity  oxidoreductase activity  peptidyl-arginine hydroxylation  extrinsic component of mitochondrial inner membrane  methylation  mitochondrial respiratory chain complex I assembly  mitochondrial respiratory chain complex I assembly  oxidation-reduction process  
NDEx NetworkNDUFAF5
Atlas of Cancer Signalling NetworkNDUFAF5
Wikipedia pathwaysNDUFAF5
Orthology - Evolution
OrthoDB79133
GeneTree (enSembl)ENSG00000101247
Phylogenetic Trees/Animal Genes : TreeFamNDUFAF5
HOGENOMQ5TEU4
Homologs : HomoloGeneNDUFAF5
Homology/Alignments : Family Browser (UCSC)NDUFAF5
Gene fusions - Rearrangements
Fusion : QuiverNDUFAF5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFAF5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFAF5
dbVarNDUFAF5
ClinVarNDUFAF5
1000_GenomesNDUFAF5 
Exome Variant ServerNDUFAF5
ExAC (Exome Aggregation Consortium)ENSG00000101247
GNOMAD BrowserENSG00000101247
Varsome BrowserNDUFAF5
Genetic variants : HAPMAP79133
Genomic Variants (DGV)NDUFAF5 [DGVbeta]
DECIPHERNDUFAF5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNDUFAF5 
Mutations
ICGC Data PortalNDUFAF5 
TCGA Data PortalNDUFAF5 
Broad Tumor PortalNDUFAF5
OASIS PortalNDUFAF5 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDNDUFAF5
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch NDUFAF5
DgiDB (Drug Gene Interaction Database)NDUFAF5
DoCM (Curated mutations)NDUFAF5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFAF5 (select a term)
intoGenNDUFAF5
Cancer3DNDUFAF5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612360    618238   
Orphanet369    19814   
DisGeNETNDUFAF5
MedgenNDUFAF5
Genetic Testing Registry NDUFAF5
NextProtQ5TEU4 [Medical]
TSGene79133
GENETestsNDUFAF5
Target ValidationNDUFAF5
Huge Navigator NDUFAF5 [HugePedia]
snp3D : Map Gene to Disease79133
BioCentury BCIQNDUFAF5
ClinGenNDUFAF5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79133
Chemical/Pharm GKB GenePA25780
Clinical trialNDUFAF5
Miscellaneous
canSAR (ICR)NDUFAF5 (select the gene name)
DataMed IndexNDUFAF5
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFAF5
EVEXNDUFAF5
GoPubMedNDUFAF5
iHOPNDUFAF5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 15:57:36 CEST 2019
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