CTC1
Name
CTS telomere maintenance complex component 1
Synonyms
RP11-849F2.8, FLJ22170, C17orf68, tmp494178, CRMCC, AAF132, AAF-132 [provided by Ensembl, GRCh37]
Location
chr17:8,130,191-8,151,362 (reverse strand)
Summary
This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]
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 (chr17) | Padj(eQTL) | Effect size | GWAS | pieQTL |
|---|
| SNP | Cluster | Position (chr17) | 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.
