POT1 Back

POT1 protection of telomeres 1 homolog (S. pombe)

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of POT1
This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described.

Community Annotation of POT1 Add / Edit POT1: Annotations

No community annotations yet for POT1.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

POT1 is highly significantly mutated in
POT1 is significantly mutated in
POT1 is near significance in
Chronic lymphocytic leukemia
CLL
4 patients (2%)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for POT1