TERT |
Gene Facts External Data Attribution
- HGNC Symbol
- TERT (HGNC:11730) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- telomerase reverse transcriptase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- TRT, TP2, TCS1, hEST2, EST2
- %HI
- 18.57(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.99(Read more about gnomAD pLI score)
- LOEUF
- 0.29(Read more about gnomAD LOEUF score)
- Cytoband
- 5p15.33
- Genomic Coordinates
-
GRCh37/hg19: chr5:1253282-1295183 NCBI Ensembl UCSC GRCh38/hg38: chr5:1253167-1295068 NCBI Ensembl UCSC - MANE Select Transcript
- NM_198253.3 ENST00000310581.10 (Read more about MANE Select)
- Function
- Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-de... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-15968
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000005.9)
(NC_000005.10)