Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   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

TERT (telomerase reverse transcriptase)

Identity

Other namesCMM9
DKCA2
DKCB4
EST2
PFBMFT1
TCS1
TP2
TRT
hEST2
hTRT
HGNC (Hugo) TERT
LocusID (NCBI) 7015
Atlas_Id 439
Location 5p15.33
Location_base_pair Starts at 1253287 and ends at 1295162 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CCDC127 (5p15.33) / TERT (5p15.33)DROSHA (5p13.3) / TERT (5p15.33)IGH (14q32.33) / TERT (5p15.33)
IRX2 (5p15.33) / TERT (5p15.33)MTMR12 (5p13.3) / TERT (5p15.33)NAA30 (14q22.3) / TERT (5p15.33)
PDCD6 (5p15.33) / TERT (5p15.33)PPP2R1B (11q23.1) / TERT (5p15.33)SLC2A13 (12q12) / TERT (5p15.33)
TERT (5p15.33) / ALK (2p23.2)TERT (5p15.33) / IL18 (11q23.1)TRIO (5p15.2) / TERT (5p15.33)
TTLL7 (1p31.1) / TERT (5p15.33)CCDC127 5p15.33 / TERT 5p15.33DROSHA 5p13.3 / TERT 5p15.33
MTMR12 5p13.3 / TERT 5p15.33NAA30 14q22.3 / TERT 5p15.33PDCD6 5p15.33 / TERT 5p15.33
SLC2A13 12q12 / TERT 5p15.33TTLL7 1p31.1 / TERT 5p15.33

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Thyroid: Anaplastic (undifferentiated) carcinoma
Bone: Conventional Osteosarcoma
Head and Neck: Laryngeal tumors: an overview

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 3 ]
  Dyskeratosis congenita (DKC) Familial melanoma Familial Myeloproliferative Disorders

External links

Nomenclature
HGNC (Hugo)TERT   11730
Cards
Entrez_Gene (NCBI)TERT  7015  telomerase reverse transcriptase
GeneCards (Weizmann)TERT
Ensembl hg19 (Hinxton)ENSG00000164362 [Gene_View]  chr5:1253287-1295162 [Contig_View]  TERT [Vega]
Ensembl hg38 (Hinxton)ENSG00000164362 [Gene_View]  chr5:1253287-1295162 [Contig_View]  TERT [Vega]
ICGC DataPortalENSG00000164362
TCGA cBioPortalTERT
AceView (NCBI)TERT
Genatlas (Paris)TERT
WikiGenes7015
SOURCE (Princeton)TERT
Genomic and cartography
GoldenPath hg19 (UCSC)TERT  -     chr5:1253287-1295162 -  5p15.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TERT  -     5p15.33   [Description]    (hg38-Dec_2013)
EnsemblTERT - 5p15.33 [CytoView hg19]  TERT - 5p15.33 [CytoView hg38]
Mapping of homologs : NCBITERT [Mapview hg19]  TERT [Mapview hg38]
OMIM127550   178500   187270   609135   613989   614742   615134   
Gene and transcription
Genbank (Entrez)AB085628 AB086379 AB086950 AF015950 AF018167
RefSeq transcript (Entrez)NM_001193376 NM_198253 NM_198254 NM_198255
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_009265 NT_006576 NW_004929321
Consensus coding sequences : CCDS (NCBI)TERT
Cluster EST : UnigeneHs.492203 [ NCBI ]
CGAP (NCI)Hs.492203
Alternative Splicing : Fast-db (Paris)GSHG0024573
Alternative Splicing GalleryENSG00000164362
Gene ExpressionTERT [ NCBI-GEO ]   TERT [ EBI - ARRAY_EXPRESS ]   TERT [ SEEK ]   TERT [ MEM ]
Gene Expression Viewer (FireBrowse)TERT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)7015
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14746 (Uniprot)
NextProtO14746  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14746
Splice isoforms : SwissVarO14746 (Swissvar)
Catalytic activity : Enzyme2.7.7.49 [ Enzyme-Expasy ]   2.7.7.492.7.7.49 [ IntEnz-EBI ]   2.7.7.49 [ BRENDA ]   2.7.7.49 [ KEGG ]   
PhosPhoSitePlusO14746
Domaine pattern : Prosite (Expaxy)RT_POL (PS50878)   
Domains : Interpro (EBI)RT_dom    Telomerase_RBD    Telomerase_RT   
Domain families : Pfam (Sanger)RVT_1 (PF00078)    Telomerase_RBD (PF12009)   
Domain families : Pfam (NCBI)pfam00078    pfam12009   
Domain families : Smart (EMBL)Telomerase_RBD (SM00975)  
DMDM Disease mutations7015
Blocks (Seattle)TERT
PDB (SRS)2BCK    4B18    4MNQ   
PDB (PDBSum)2BCK    4B18    4MNQ   
PDB (IMB)2BCK    4B18    4MNQ   
PDB (RSDB)2BCK    4B18    4MNQ   
Structural Biology KnowledgeBase2BCK    4B18    4MNQ   
SCOP (Structural Classification of Proteins)2BCK    4B18    4MNQ   
CATH (Classification of proteins structures)2BCK    4B18    4MNQ   
SuperfamilyO14746
Human Protein AtlasENSG00000164362
Peptide AtlasO14746
HPRD01754
IPIIPI00298218   IPI00384469   IPI00168908   IPI00963895   
Protein Interaction databases
DIP (DOE-UCLA)O14746
IntAct (EBI)O14746
FunCoupENSG00000164362
BioGRIDTERT
STRING (EMBL)TERT
ZODIACTERT
Ontologies - Pathways
QuickGOO14746
Ontology : AmiGOtRNA binding  telomerase catalytic core complex  telomerase catalytic core complex  telomerase catalytic core complex  telomere maintenance  chromosome, telomeric region  nuclear telomere cap complex  nuclear chromosome, telomeric region  transcription, RNA-templated  transcription coactivator binding  DNA binding  telomerase activity  telomerase activity  telomerase activity  telomerase RNA reverse transcriptase activity  telomerase RNA reverse transcriptase activity  telomerase RNA reverse transcriptase activity  telomerase RNA reverse transcriptase activity  RNA binding  RNA-directed DNA polymerase activity  RNA-directed RNA polymerase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  telomerase holoenzyme complex  telomerase holoenzyme complex  nucleolus  nucleolus  RNA-dependent DNA replication  telomere maintenance via telomerase  telomere maintenance via telomerase  telomere maintenance via telomerase  telomere maintenance via telomerase  mitochondrion organization  negative regulation of gene expression  PML body  nucleotidyltransferase activity  DNA strand elongation  positive regulation of Wnt signaling pathway  production of siRNA involved in RNA interference  RNA-directed RNA polymerase complex  regulation of protein stability  regulation of protein stability  positive regulation of protein binding  RNA biosynthetic process  telomeric DNA binding  positive regulation of hair cycle  mitochondrial nucleoid  protein homodimerization activity  metal ion binding  positive regulation of nitric-oxide synthase activity  telomerase RNA binding  telomerase RNA binding  establishment of protein localization to telomere  cellular response to hypoxia  DNA biosynthetic process  replicative senescence  positive regulation of pri-miRNA transcription from RNA polymerase II promoter  negative regulation of production of siRNA involved in RNA interference  positive regulation of protein localization to nucleolus  beta-catenin-TCF complex assembly  TERT-RMRP complex  positive regulation of stem cell proliferation  negative regulation of cellular senescence  negative regulation of cellular senescence  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
Ontology : EGO-EBItRNA binding  telomerase catalytic core complex  telomerase catalytic core complex  telomerase catalytic core complex  telomere maintenance  chromosome, telomeric region  nuclear telomere cap complex  nuclear chromosome, telomeric region  transcription, RNA-templated  transcription coactivator binding  DNA binding  telomerase activity  telomerase activity  telomerase activity  telomerase RNA reverse transcriptase activity  telomerase RNA reverse transcriptase activity  telomerase RNA reverse transcriptase activity  telomerase RNA reverse transcriptase activity  RNA binding  RNA-directed DNA polymerase activity  RNA-directed RNA polymerase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  telomerase holoenzyme complex  telomerase holoenzyme complex  nucleolus  nucleolus  RNA-dependent DNA replication  telomere maintenance via telomerase  telomere maintenance via telomerase  telomere maintenance via telomerase  telomere maintenance via telomerase  mitochondrion organization  negative regulation of gene expression  PML body  nucleotidyltransferase activity  DNA strand elongation  positive regulation of Wnt signaling pathway  production of siRNA involved in RNA interference  RNA-directed RNA polymerase complex  regulation of protein stability  regulation of protein stability  positive regulation of protein binding  RNA biosynthetic process  telomeric DNA binding  positive regulation of hair cycle  mitochondrial nucleoid  protein homodimerization activity  metal ion binding  positive regulation of nitric-oxide synthase activity  telomerase RNA binding  telomerase RNA binding  establishment of protein localization to telomere  cellular response to hypoxia  DNA biosynthetic process  replicative senescence  positive regulation of pri-miRNA transcription from RNA polymerase II promoter  negative regulation of production of siRNA involved in RNA interference  positive regulation of protein localization to nucleolus  beta-catenin-TCF complex assembly  TERT-RMRP complex  positive regulation of stem cell proliferation  negative regulation of cellular senescence  negative regulation of cellular senescence  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
Pathways : BIOCARTARole of nicotinic acetylcholine receptors in the regulation of apoptosis [Genes]    Telomeres, Telomerase, Cellular Aging, and Immortality [Genes]   
Pathways : KEGGHTLV-I infection   
NDEx Network
Atlas of Cancer Signalling NetworkTERT
Wikipedia pathwaysTERT
Orthology - Evolution
OrthoDB7015
GeneTree (enSembl)ENSG00000164362
Phylogenetic Trees/Animal Genes : TreeFamTERT
Homologs : HomoloGeneTERT
Homology/Alignments : Family Browser (UCSC)TERT
Gene fusions - Rearrangements
Fusion: TCGACCDC127 5p15.33 TERT 5p15.33 GBM
Fusion: TCGADROSHA 5p13.3 TERT 5p15.33 SKCM
Fusion: TCGAMTMR12 5p13.3 TERT 5p15.33 THCA
Fusion: TCGANAA30 14q22.3 TERT 5p15.33 GBM
Fusion: TCGAPDCD6 5p15.33 TERT 5p15.33 KIRC
Fusion: TCGASLC2A13 12q12 TERT 5p15.33 KIRC
Fusion: TCGATTLL7 1p31.1 TERT 5p15.33 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerTERT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TERT
dbVarTERT
ClinVarTERT
1000_GenomesTERT 
Exome Variant ServerTERT
ExAC (Exome Aggregation Consortium)TERT (select the gene name)
SNP (GeneSNP Utah)TERT
SNP : HGBaseTERT
Genetic variants : HAPMAPTERT
Genomic Variants (DGV)TERT [DGVbeta]
Mutations
ICGC Data PortalTERT 
TCGA Data PortalTERT 
Broad Tumor PortalTERT
OASIS PortalTERT [ Somatic mutations - Copy number]
Cancer Gene: CensusTERT 
Somatic Mutations in Cancer : COSMICTERT 
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch TERT
DgiDB (Drug Gene Interaction Database)TERT
DoCM (Curated mutations)TERT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TERT (select a term)
intoGenTERT
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:1253287-1295162
CONAN: Copy Number AnalysisTERT 
Mutations and Diseases : HGMDTERT
OMIM127550    178500    187270    609135    613989    614742    615134   
MedgenTERT
Genetic Testing Registry TERT
NextProtO14746 [Medical]
TSGene7015
GENETestsTERT
Huge Navigator TERT [HugePedia]  TERT [HugeCancerGEM]
snp3D : Map Gene to Disease7015
BioCentury BCIQTERT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7015
Chemical/Pharm GKB GenePA36447
Clinical trialTERT
Miscellaneous
canSAR (ICR)TERT (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTERT
GoPubMedTERT
iHOPTERT
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 : Sat Apr 16 18:07:01 CEST 2016

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

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.