Atlas of Genetics and Cytogenetics in Oncology and Haematology


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OTC (ornithine carbamoyltransferase)

Identity

Other namesOCTD
HGNC (Hugo) OTC
LocusID (NCBI) 5009
Atlas_Id 49879
Location Xp11.4
Location_base_pair Starts at 38211736 and ends at 38280703 bp from pter ( according to hg19-Feb_2009)

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)OTC   8512
Cards
Entrez_Gene (NCBI)OTC  5009  ornithine carbamoyltransferase
GeneCards (Weizmann)OTC
Ensembl hg19 (Hinxton)ENSG00000036473 [Gene_View]  chrX:38211736-38280703 [Contig_View]  OTC [Vega]
Ensembl hg38 (Hinxton)ENSG00000036473 [Gene_View]  chrX:38211736-38280703 [Contig_View]  OTC [Vega]
ICGC DataPortalENSG00000036473
TCGA cBioPortalOTC
AceView (NCBI)OTC
Genatlas (Paris)OTC
WikiGenes5009
SOURCE (Princeton)OTC
Genomic and cartography
GoldenPath hg19 (UCSC)OTC  -     chrX:38211736-38280703 +  Xp11.4   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)OTC  -     Xp11.4   [Description]    (hg38-Dec_2013)
EnsemblOTC - Xp11.4 [CytoView hg19]  OTC - Xp11.4 [CytoView hg38]
Mapping of homologs : NCBIOTC [Mapview hg19]  OTC [Mapview hg38]
OMIM300461   311250   
Gene and transcription
Genbank (Entrez)AI247721 AK292757 BC074745 BC107153 BC107154
RefSeq transcript (Entrez)NM_000531
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_008471 NT_079573 NW_004929439
Consensus coding sequences : CCDS (NCBI)OTC
Cluster EST : UnigeneHs.117050 [ NCBI ]
CGAP (NCI)Hs.117050
Alternative Splicing GalleryENSG00000036473
Gene ExpressionOTC [ NCBI-GEO ]   OTC [ EBI - ARRAY_EXPRESS ]   OTC [ SEEK ]   OTC [ MEM ]
Gene Expression Viewer (FireBrowse)OTC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5009
GTEX Portal (Tissue expression)OTC
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00480 (Uniprot)
NextProtP00480  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP00480
Splice isoforms : SwissVarP00480 (Swissvar)
Catalytic activity : Enzyme2.1.3.3 [ Enzyme-Expasy ]   2.1.3.32.1.3.3 [ IntEnz-EBI ]   2.1.3.3 [ BRENDA ]   2.1.3.3 [ KEGG ]   
PhosPhoSitePlusP00480
Domaine pattern : Prosite (Expaxy)CARBAMOYLTRANSFERASE (PS00097)   
Domains : Interpro (EBI)Asp/Orn_carbamoyltranf_P-bd    Asp/Orn_carbamoylTrfase    Asp_carbamoyltransf_Asp/Orn-bd    Orn/put_carbamltrans   
Domain families : Pfam (Sanger)OTCace (PF00185)    OTCace_N (PF02729)   
Domain families : Pfam (NCBI)pfam00185    pfam02729   
DMDM Disease mutations5009
Blocks (Seattle)OTC
PDB (SRS)1C9Y    1EP9    1FVO    1OTH   
PDB (PDBSum)1C9Y    1EP9    1FVO    1OTH   
PDB (IMB)1C9Y    1EP9    1FVO    1OTH   
PDB (RSDB)1C9Y    1EP9    1FVO    1OTH   
Structural Biology KnowledgeBase1C9Y    1EP9    1FVO    1OTH   
SCOP (Structural Classification of Proteins)1C9Y    1EP9    1FVO    1OTH   
CATH (Classification of proteins structures)1C9Y    1EP9    1FVO    1OTH   
SuperfamilyP00480
Human Protein AtlasENSG00000036473
Peptide AtlasP00480
HPRD02408
IPIIPI00295363   
Protein Interaction databases
DIP (DOE-UCLA)P00480
IntAct (EBI)P00480
FunCoupENSG00000036473
BioGRIDOTC
STRING (EMBL)OTC
ZODIACOTC
Ontologies - Pathways
QuickGOP00480
Ontology : AmiGOurea cycle  urea cycle  urea cycle  liver development  ornithine carbamoyltransferase activity  ornithine carbamoyltransferase activity  phospholipid binding  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  mitochondrial matrix  ornithine catabolic process  midgut development  response to zinc ion  amino acid binding  citrulline biosynthetic process  response to insulin  phosphate ion binding  arginine biosynthetic process via ornithine  response to drug  protein homotrimerization  response to biotin  ammonia homeostasis  
Ontology : EGO-EBIurea cycle  urea cycle  urea cycle  liver development  ornithine carbamoyltransferase activity  ornithine carbamoyltransferase activity  phospholipid binding  mitochondrion  mitochondrial inner membrane  mitochondrial matrix  mitochondrial matrix  ornithine catabolic process  midgut development  response to zinc ion  amino acid binding  citrulline biosynthetic process  response to insulin  phosphate ion binding  arginine biosynthetic process via ornithine  response to drug  protein homotrimerization  response to biotin  ammonia homeostasis  
Pathways : KEGGArginine and proline metabolism   
NDEx Network
Atlas of Cancer Signalling NetworkOTC
Wikipedia pathwaysOTC
Orthology - Evolution
OrthoDB5009
GeneTree (enSembl)ENSG00000036473
Phylogenetic Trees/Animal Genes : TreeFamOTC
Homologs : HomoloGeneOTC
Homology/Alignments : Family Browser (UCSC)OTC
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerOTC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OTC
dbVarOTC
ClinVarOTC
1000_GenomesOTC 
Exome Variant ServerOTC
ExAC (Exome Aggregation Consortium)OTC (select the gene name)
Genetic variants : HAPMAP5009
Genomic Variants (DGV)OTC [DGVbeta]
Mutations
ICGC Data PortalOTC 
TCGA Data PortalOTC 
Broad Tumor PortalOTC
OASIS PortalOTC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOTC 
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)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch OTC
DgiDB (Drug Gene Interaction Database)OTC
DoCM (Curated mutations)OTC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OTC (select a term)
intoGenOTC
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:38211736-38280703  ENSG00000036473
CONAN: Copy Number AnalysisOTC 
Mutations and Diseases : HGMDOTC
OMIM300461    311250   
MedgenOTC
Genetic Testing Registry OTC
NextProtP00480 [Medical]
TSGene5009
GENETestsOTC
Huge Navigator OTC [HugePedia]
snp3D : Map Gene to Disease5009
BioCentury BCIQOTC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5009
Chemical/Pharm GKB GenePA32840
Clinical trialOTC
Miscellaneous
canSAR (ICR)OTC (select the gene name)
Probes
Litterature
PubMed100 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOTC
EVEXOTC
GoPubMedOTC
iHOPOTC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun May 8 18:59:06 CEST 2016

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