Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

NDUFA12 (NADH:ubiquinone oxidoreductase subunit A12)

Identity

Alias_namesNADH dehydrogenase (ubiquinone) 1 alpha subcomplex
Alias_symbol (synonym)DAP13
B17.2
Other alias
HGNC (Hugo) NDUFA12
LocusID (NCBI) 55967
Atlas_Id 54493
Location 12q22  [Link to chromosome band 12q22]
Location_base_pair Starts at 94971328 and ends at 95003713 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ANKS1B (12q23.1) / NDUFA12 (12q22)CDK11B (1p36.33) / NDUFA12 (12q22)NDUFA12 (12q22) / FGD6 (12q22)
ANKS1B 12q23.1 / NDUFA12 12q22

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)NDUFA12   23987
Cards
Entrez_Gene (NCBI)NDUFA12  55967  NADH:ubiquinone oxidoreductase subunit A12
AliasesB17.2; DAP13
GeneCards (Weizmann)NDUFA12
Ensembl hg19 (Hinxton)ENSG00000184752 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184752 [Gene_View]  chr12:94971328-95003713 [Contig_View]  NDUFA12 [Vega]
ICGC DataPortalENSG00000184752
TCGA cBioPortalNDUFA12
AceView (NCBI)NDUFA12
Genatlas (Paris)NDUFA12
WikiGenes55967
SOURCE (Princeton)NDUFA12
Genetics Home Reference (NIH)NDUFA12
Genomic and cartography
GoldenPath hg38 (UCSC)NDUFA12  -     chr12:94971328-95003713 -  12q22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NDUFA12  -     12q22   [Description]    (hg19-Feb_2009)
EnsemblNDUFA12 - 12q22 [CytoView hg19]  NDUFA12 - 12q22 [CytoView hg38]
Mapping of homologs : NCBINDUFA12 [Mapview hg19]  NDUFA12 [Mapview hg38]
OMIM256000   614530   
Gene and transcription
Genbank (Entrez)AF112208 AF217092 AK222619 BC005936 BG943528
RefSeq transcript (Entrez)NM_001258338 NM_018838
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NDUFA12
Cluster EST : UnigeneHs.506374 [ NCBI ]
CGAP (NCI)Hs.506374
Alternative Splicing GalleryENSG00000184752
Gene ExpressionNDUFA12 [ NCBI-GEO ]   NDUFA12 [ EBI - ARRAY_EXPRESS ]   NDUFA12 [ SEEK ]   NDUFA12 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFA12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55967
GTEX Portal (Tissue expression)NDUFA12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UI09   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UI09  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UI09
Splice isoforms : SwissVarQ9UI09
PhosPhoSitePlusQ9UI09
Domains : Interpro (EBI)NDUFA12   
Domain families : Pfam (Sanger)NDUFA12 (PF05071)   
Domain families : Pfam (NCBI)pfam05071   
Conserved Domain (NCBI)NDUFA12
DMDM Disease mutations55967
Blocks (Seattle)NDUFA12
SuperfamilyQ9UI09
Human Protein AtlasENSG00000184752
Peptide AtlasQ9UI09
HPRD16781
IPIIPI00019331   IPI00005966   IPI01022198   IPI01022351   IPI01022208   IPI01022105   IPI01021975   
Protein Interaction databases
DIP (DOE-UCLA)Q9UI09
IntAct (EBI)Q9UI09
FunCoupENSG00000184752
BioGRIDNDUFA12
STRING (EMBL)NDUFA12
ZODIACNDUFA12
Ontologies - Pathways
QuickGOQ9UI09
Ontology : AmiGOmitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  cytosol  mitochondrial electron transport, NADH to ubiquinone  response to oxidative stress  respiratory gaseous exchange  NADH dehydrogenase (ubiquinone) activity  electron carrier activity  mitochondrial respiratory chain complex I assembly  mitochondrial ATP synthesis coupled electron transport  
Ontology : EGO-EBImitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  cytosol  mitochondrial electron transport, NADH to ubiquinone  response to oxidative stress  respiratory gaseous exchange  NADH dehydrogenase (ubiquinone) activity  electron carrier activity  mitochondrial respiratory chain complex I assembly  mitochondrial ATP synthesis coupled electron transport  
Pathways : KEGGOxidative phosphorylation    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkNDUFA12
Atlas of Cancer Signalling NetworkNDUFA12
Wikipedia pathwaysNDUFA12
Orthology - Evolution
OrthoDB55967
GeneTree (enSembl)ENSG00000184752
Phylogenetic Trees/Animal Genes : TreeFamNDUFA12
HOVERGENQ9UI09
HOGENOMQ9UI09
Homologs : HomoloGeneNDUFA12
Homology/Alignments : Family Browser (UCSC)NDUFA12
Gene fusions - Rearrangements
Fusion : MitelmanANKS1B/NDUFA12 [12q23.1/12q22]  [t(12;12)(q22;q23)]  
Fusion: TCGAANKS1B 12q23.1 NDUFA12 12q22 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFA12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFA12
dbVarNDUFA12
ClinVarNDUFA12
1000_GenomesNDUFA12 
Exome Variant ServerNDUFA12
ExAC (Exome Aggregation Consortium)NDUFA12 (select the gene name)
Genetic variants : HAPMAP55967
Genomic Variants (DGV)NDUFA12 [DGVbeta]
DECIPHERNDUFA12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNDUFA12 
Mutations
ICGC Data PortalNDUFA12 
TCGA Data PortalNDUFA12 
Broad Tumor PortalNDUFA12
OASIS PortalNDUFA12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFA12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNDUFA12
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 NDUFA12
DgiDB (Drug Gene Interaction Database)NDUFA12
DoCM (Curated mutations)NDUFA12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFA12 (select a term)
intoGenNDUFA12
Cancer3DNDUFA12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM256000    614530   
Orphanet19814   
MedgenNDUFA12
Genetic Testing Registry NDUFA12
NextProtQ9UI09 [Medical]
TSGene55967
GENETestsNDUFA12
Huge Navigator NDUFA12 [HugePedia]
snp3D : Map Gene to Disease55967
BioCentury BCIQNDUFA12
ClinGenNDUFA12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55967
Chemical/Pharm GKB GenePA142671269
Clinical trialNDUFA12
Miscellaneous
canSAR (ICR)NDUFA12 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFA12
EVEXNDUFA12
GoPubMedNDUFA12
iHOPNDUFA12
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 : Fri May 19 12:28:17 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.