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TOP1MT (topoisomerase (DNA) I, mitochondrial)

Identity

Other alias-
HGNC (Hugo) TOP1MT
LocusID (NCBI) 116447
Atlas_Id 53578
Location 8q24.3  [Link to chromosome band 8q24]
Location_base_pair Starts at 144391497 and ends at 144442147 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
TOP1MT (8q24.3) / SND1 (7q32.1)VARS (6p21.33) / TOP1MT (8q24.3)

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)TOP1MT   29787
Cards
Entrez_Gene (NCBI)TOP1MT  116447  topoisomerase (DNA) I, mitochondrial
Aliases
GeneCards (Weizmann)TOP1MT
Ensembl hg19 (Hinxton)ENSG00000184428 [Gene_View]  chr8:144391497-144442147 [Contig_View]  TOP1MT [Vega]
Ensembl hg38 (Hinxton)ENSG00000184428 [Gene_View]  chr8:144391497-144442147 [Contig_View]  TOP1MT [Vega]
ICGC DataPortalENSG00000184428
TCGA cBioPortalTOP1MT
AceView (NCBI)TOP1MT
Genatlas (Paris)TOP1MT
WikiGenes116447
SOURCE (Princeton)TOP1MT
Genetics Home Reference (NIH)TOP1MT
Genomic and cartography
GoldenPath hg19 (UCSC)TOP1MT  -     chr8:144391497-144442147 -  8q24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TOP1MT  -     8q24.3   [Description]    (hg38-Dec_2013)
EnsemblTOP1MT - 8q24.3 [CytoView hg19]  TOP1MT - 8q24.3 [CytoView hg38]
Mapping of homologs : NCBITOP1MT [Mapview hg19]  TOP1MT [Mapview hg38]
OMIM606387   
Gene and transcription
Genbank (Entrez)AF349017 AK302372 AK303237 AK308475 AK309005
RefSeq transcript (Entrez)NM_001258446 NM_001258447 NM_052963
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_008046 NW_004929340
Consensus coding sequences : CCDS (NCBI)TOP1MT
Cluster EST : UnigeneHs.734085 [ NCBI ]
CGAP (NCI)Hs.734085
Alternative Splicing GalleryENSG00000184428
Gene ExpressionTOP1MT [ NCBI-GEO ]   TOP1MT [ EBI - ARRAY_EXPRESS ]   TOP1MT [ SEEK ]   TOP1MT [ MEM ]
Gene Expression Viewer (FireBrowse)TOP1MT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)116447
GTEX Portal (Tissue expression)TOP1MT
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969P6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ969P6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969P6
Splice isoforms : SwissVarQ969P6
Catalytic activity : Enzyme5.99.1.2 [ Enzyme-Expasy ]   5.99.1.25.99.1.2 [ IntEnz-EBI ]   5.99.1.2 [ BRENDA ]   5.99.1.2 [ KEGG ]   
PhosPhoSitePlusQ969P6
Domaine pattern : Prosite (Expaxy)TOPOISOMERASE_I_EUK (PS00176)   
Domains : Interpro (EBI)DNA_brk_join_enz    DNA_topo_domain1    TopoI    TopoI_AS    TopoI_C_dom    TopoI_cat_a-hlx-sub_euk    TopoI_cat_a/b-sub_euk    TopoI_cat_euk    TopoI_DNA-bd_euk    TopoI_DNA-bd_mixed-a/b_euk    TopoI_euk   
Domain families : Pfam (Sanger)Topo_C_assoc (PF14370)    Topoisom_I (PF01028)    Topoisom_I_N (PF02919)   
Domain families : Pfam (NCBI)pfam14370    pfam01028    pfam02919   
Domain families : Smart (EMBL)TOPEUc (SM00435)  
Conserved Domain (NCBI)TOP1MT
DMDM Disease mutations116447
Blocks (Seattle)TOP1MT
SuperfamilyQ969P6
Human Protein AtlasENSG00000184428
Peptide AtlasQ969P6
HPRD16214
IPIIPI00465141   IPI00911056   IPI00984931   IPI00976362   IPI00974556   IPI00978408   IPI00979115   IPI00984236   IPI00983013   IPI00979725   IPI01018235   IPI00974575   IPI00974139   IPI00974511   
Protein Interaction databases
DIP (DOE-UCLA)Q969P6
IntAct (EBI)Q969P6
FunCoupENSG00000184428
BioGRIDTOP1MT
STRING (EMBL)TOP1MT
ZODIACTOP1MT
Ontologies - Pathways
QuickGOQ969P6
Ontology : AmiGODNA binding  DNA topoisomerase type I activity  DNA topoisomerase type II (ATP-hydrolyzing) activity  nucleus  nucleolus  mitochondrion  DNA replication  DNA topological change  chromatin remodeling  chromosome segregation  replication fork protection complex  mitochondrial nucleoid  
Ontology : EGO-EBIDNA binding  DNA topoisomerase type I activity  DNA topoisomerase type II (ATP-hydrolyzing) activity  nucleus  nucleolus  mitochondrion  DNA replication  DNA topological change  chromatin remodeling  chromosome segregation  replication fork protection complex  mitochondrial nucleoid  
NDEx NetworkTOP1MT
Atlas of Cancer Signalling NetworkTOP1MT
Wikipedia pathwaysTOP1MT
Orthology - Evolution
OrthoDB116447
GeneTree (enSembl)ENSG00000184428
Phylogenetic Trees/Animal Genes : TreeFamTOP1MT
HOVERGENQ969P6
HOGENOMQ969P6
Homologs : HomoloGeneTOP1MT
Homology/Alignments : Family Browser (UCSC)TOP1MT
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTOP1MT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TOP1MT
dbVarTOP1MT
ClinVarTOP1MT
1000_GenomesTOP1MT 
Exome Variant ServerTOP1MT
ExAC (Exome Aggregation Consortium)TOP1MT (select the gene name)
Genetic variants : HAPMAP116447
Genomic Variants (DGV)TOP1MT [DGVbeta]
DECIPHER (Syndromes)8:144391497-144442147  ENSG00000184428
CONAN: Copy Number AnalysisTOP1MT 
Mutations
ICGC Data PortalTOP1MT 
TCGA Data PortalTOP1MT 
Broad Tumor PortalTOP1MT
OASIS PortalTOP1MT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTOP1MT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTOP1MT
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 TOP1MT
DgiDB (Drug Gene Interaction Database)TOP1MT
DoCM (Curated mutations)TOP1MT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TOP1MT (select a term)
intoGenTOP1MT
Cancer3DTOP1MT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606387   
Orphanet
MedgenTOP1MT
Genetic Testing Registry TOP1MT
NextProtQ969P6 [Medical]
TSGene116447
GENETestsTOP1MT
Huge Navigator TOP1MT [HugePedia]
snp3D : Map Gene to Disease116447
BioCentury BCIQTOP1MT
ClinGenTOP1MT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD116447
Chemical/Pharm GKB GenePA134922772
Clinical trialTOP1MT
Miscellaneous
canSAR (ICR)TOP1MT (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTOP1MT
EVEXTOP1MT
GoPubMedTOP1MT
iHOPTOP1MT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Mar 30 15:23:05 CEST 2017

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