TERT
Name
telomerase reverse transcriptase
Synonyms
TCS1, hTRT, hEST2, TP2, CMM9, DKCB4, PFBMFT1, DKCA2, TRT, EST2 [provided by Ensembl, GRCh37]
Location
chr5:1,253,262-1,295,184 (reverse strand)
Summary
Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
Biotype
Protein coding
Ensembl gene ID
NCBI gene ID
Search for articles
Differential expression
Differential gene expression across cell types as calculated by the DESeq package (version 1.6.3). Cells are sorted based on median gene expression from highest to lowest. Squares in the upper diagonal matrix indicate results from pair-wise comparisons of two cell types on the x- and y-axis. Changing the tab on top will switch from log2 fold change to P values, and mousing over the squares will display those values. Adjusting the threshold slider will change the color of the square to indicate if it is above or below the threshold.
Differential gene expression across cell types as calculated by the DESeq package (version 1.6.3). Cells are sorted based on median gene expression from highest to lowest. Squares in the upper diagonal matrix indicate results from pair-wise comparisons of two cell types on the x- and y-axis. Changing the tab on top will switch from log2 fold change to P values, and mousing over the squares will display those values. Adjusting the threshold slider will change the color of the square to indicate if it is above or below the threshold.
DICE QTLs
Discovery of genetic variants directly associated with the gene expression level (SNP located within +/- 1 Mb of the TSS); 'expression quantitative trait loci' (eQTL). Hover over the table headers for a description of several of the fields.
Discovery of genetic variants directly associated with the gene expression level (SNP located within +/- 1 Mb of the TSS); 'expression quantitative trait loci' (eQTL). Hover over the table headers for a description of several of the fields.
| SNP ID | Cell type | Position (chr5) | Padj(eQTL) | Effect size | GWAS | pieQTL |
|---|
| SNP | Cluster | Position (chr5) | Padj(eQTL) | Effect size |
|---|
| SNP | Disease or trait | Padj(gwas) |
|---|
| SNP | Distance(bp) from TSS | Cell type | Padj(eQTL) |
|---|
| Reference | Title of article | Pubmed ID |
|---|
UCSC Genome Browser
RNA expression levels (in reads per million) averaged across samples are shown for each cell type, along with the Gencode annotations. Controls allow you to zoom in/out, move to a different region of the genome, change scales, or add/remove tracks. Future versions will also display SNPs/eQTLs as separate tracks.
RNA expression levels (in reads per million) averaged across samples are shown for each cell type, along with the Gencode annotations. Controls allow you to zoom in/out, move to a different region of the genome, change scales, or add/remove tracks. Future versions will also display SNPs/eQTLs as separate tracks.
