AutismKB 2.0

Annotation Detail for TERT


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Basic Information Top
Gene Symbol:TERT ( EST2,TCS1,TP2,TRT,hEST2 )
Gene Full Name: telomerase reverse transcriptase
Band: 5p15.33
Quick LinksEntrez ID:7015; OMIM: 187270; Uniprot ID:TERT_HUMAN; ENSEMBL ID: ENSG00000164362; HGNC ID: 11730
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
707Phosphotyrosine; by SRC-type Tyr-kinases.
1113Phosphothreonine.
1125Phosphoserine.
Location(AA) Modifications Resource
227Phosphoserine (PKB
707Phosphotyrosine (Src)Phospho.ELM 6.0
797PhosphoserinePhospho.ELM 6.0
824Phosphoserine (PKB
1113Phosphothreonine.Swiss-Prot 53.0
1113PhosphothreoninePhospho.ELM 6.0
1125Phosphoserine.Swiss-Prot 53.0
1125PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
231Phosphoserine(IKK)HMM predict
274Phosphoserine(CDC2)HMM predict
284Phosphoserine(CK1)HMM predict
292O-linkedHMM predict
309O-linkedHMM predict
310Phosphothreonine(PKC)HMM predict
311O-linkedHMM predict
319O-linkedHMM predict
325Phosphotyrosine(Abl)HMM predict
333Phosphotyrosine(Jak)HMM predict
375Phosphothreonine(CDK)HMM predict
375Phosphothreonine(CDC2)HMM predict
420Phosphothreonine(MAPK)HMM predict
456Phosphoserine(CK1)HMM predict
504Phosphoserine(PKG)HMM predict
523Phosphoserine(CDC2)HMM predict
644Phosphothreonine(PKC)HMM predict
655Phosphothreonine(PKC)HMM predict
797Phosphoserine(CK1)HMM predict
824Phosphoserine(PKB)HMM predict
1028N-linkedHMM predict
1041Phosphoserine(IKK)HMM predict
1088Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-10b hsa-mir-10b 2 21241449
hsa-miR-10b* hsa-mir-10b 2 21241449
hsa-miR-23b hsa-mir-23b 9 21241449
hsa-miR-23b* hsa-mir-23b 9 21241449
hsa-miR-429 hsa-mir-429 1 21233447
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
458 mRNA repression TRUE miR-138 TERT Luciferase assay 18201269
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000164362 endothelium anaplastic thyroid carcinoma (ATC) down regulated "epithelium, lymphocyte" "malignant tumour, leukaemia, non-Hodgkin's, sarcoma"
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018