KEGG   VARIANT: 7015v1
Entry
7015v1                      Variant                                
Name
TERT overexpression
Gene
TERT  telomerase reverse transcriptase [KO:K11126]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
promoter mutation C228T
Variation
promoter mutation C250T
Variation
promoter mutation C228A
Variation
promoter mutation C229A
Network
nt06232  Telomerase activity (cancer)
nt06261  Gastric cancer
nt06263  Hepatocellular carcinoma
Disease
H00018  Gastric cancer
H00048  Hepatocellular carcinoma
Reference
  Authors
Killela PJ, Reitman ZJ, Jiao Y, Bettegowda C, Agrawal N, Diaz LA Jr, Friedman AH, Friedman H, Gallia GL, Giovanella BC, Grollman AP, He TC, He Y, Hruban RH, Jallo GI, Mandahl N, Meeker AK, Mertens F, Netto GJ, Rasheed BA, Riggins GJ, Rosenquist TA, Schiffman M, Shih IeM, Theodorescu D, Torbenson MS, Velculescu VE, Wang TL, Wentzensen N, Wood LD, Zhang M, McLendon RE, Bigner DD, Kinzler KW, Vogelstein B, Papadopoulos N, Yan H
  Title
TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal.
  Journal
Proc Natl Acad Sci U S A 110:6021-6 (2013)
DOI:10.1073/pnas.1303607110
Reference
  Authors
Cevik D, Yildiz G, Ozturk M
  Title
Common telomerase reverse transcriptase promoter mutations in hepatocellular carcinomas from different geographical locations.
  Journal
World J Gastroenterol 21:311-7 (2015)
DOI:10.3748/wjg.v21.i1.311
Reference
  Authors
Pezzuto F, Buonaguro L, Buonaguro FM, Tornesello ML
  Title
Frequency and geographic distribution of TERT promoter mutations in primary hepatocellular carcinoma.
  Journal
Infect Agent Cancer 12:27 (2017)
DOI:10.1186/s13027-017-0138-5
Reference
  Authors
Huang DS, Wang Z, He XJ, Diplas BH, Yang R, Killela PJ, Meng Q, Ye ZY, Wang W, Jiang XT, Xu L, He XL, Zhao ZS, Xu WJ, Wang HJ, Ma YY, Xia YJ, Li L, Zhang RX, Jin T, Zhao ZK, Xu J, Yu S, Wu F, Liang J, Wang S, Jiao Y, Yan H, Tao HQ
  Title
Recurrent TERT promoter mutations identified in a large-scale study of multiple tumour types are associated with increased TERT expression and telomerase activation.
  Journal
Eur J Cancer 51:969-76 (2015)
DOI:10.1016/j.ejca.2015.03.010
LinkDB

KEGG   Homo sapiens (human): 7012
Entry
7012              ncRNA     T01001                                 
Symbol
TERC, DKCA1, PFBMFT2, SCARNA19, TER, TR, TRC3, hTR
Name
(RefSeq) telomerase RNA component
  KO
K22183  telomerase RNA component
Organism
hsa  Homo sapiens (human)
Pathway
hsa05200  Pathways in cancer
hsa05225  Hepatocellular carcinoma
hsa05226  Gastric cancer
Network
nt06232  Telomerase activity (cancer)
nt06261  Gastric cancer
nt06263  Hepatocellular carcinoma
nt06510  Telomere length regulation
  Element
N00239  Telomerase activity
N00240  TERT-overexpression to telomerase activity
N01475  Telomerase RNA maturation
N01476  Assembly and trafficking of telomerase
N01477  Telomere elongation
Disease
H00507  Dyskeratosis congenita
H01132  Aplastic anemia
H01299  Idiopathic pulmonary fibrosis
H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    7012 (TERC)
  09162 Cancer: specific types
   05225 Hepatocellular carcinoma
    7012 (TERC)
   05226 Gastric cancer
    7012 (TERC)
 09180 Brite Hierarchies
  09184 RNA family
   03100 Non-coding RNAs [BR:hsa03100]
    7012 (TERC)
Non-coding RNAs [BR:hsa03100]
 Other RNA
  Unclassified
   7012 (TERC)
SSDB
Other DBs
NCBI-GeneID: 7012
OMIM: 602322
HGNC: 11727
Ensembl: ENSG00000277925
LinkDB
Position
3:complement(169764610..169765060)
NT seq 451 nt   +upstreamnt  +downstreamnt
gggttgcggagggtgggcctgggaggggtggtggccattttttgtctaaccctaactgag
aagggcgtaggcgccgtgcttttgctccccgcgcgctgtttttctcgctgactttcagcg
ggcggaaaagcctcggcctgccgccttccaccgttcattctagagcaaacaaaaaatgtc
agctgctggcccgttcgcccctcccggggacctgcggcgggtcgcctgcccagcccccga
accccgcctggaggccgcggtcggcccggggcttctccggaggcacccactgccaccgcg
aagagttgggctctgtcagccgcgggtctctcgggggcgagggcgaggttcaggcctttc
aggccgcaggaagaggaacggagcgagtccccgcgcgcggcgcgattccctgagctgtgg
gacgtgcacccaggactcggctcacacatgc

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