RPTOR
Overview
RPTOR (regulatory-associated protein of mTOR) encodes a scaffolding component of mTORC1, the rapamycin-sensitive complex that integrates nutrient and growth-factor signals to control protein synthesis, autophagy, and cell growth. Structural alterations in RPTOR disrupt mTORC1 assembly and may contribute to oncogenic signaling in mesenchymal tumors.
Alterations observed in the corpus
- Recurrently SV-affected (structural variant) gene in a comprehensive rhabdomyosarcoma (RMS) genomic analysis; positioned within the tyrosine kinase signaling and muscle development gene set PMID:24436047
Cancer types (linked)
- RMS: recurrent structural variant affecting RPTOR in the context of a large genomic characterization of rhabdomyosarcoma PMID:24436047
Co-occurrence and mutual exclusivity
- Co-listed with CACNA1A, NRG1, and FOXP2 as recurrently SV-affected genes in RMS PMID:24436047
Therapeutic relevance
- mTORC1 inhibitors (rapalogs) are rationally indicated for RPTOR loss-of-function contexts, though direct evidence in RMS is not established in this corpus.
Open questions
- Functional consequence of SVs at RPTOR in RMS (passenger vs. driver) is uncharacterized.
Sources
This page was processed by crosslinker on 2026-05-09.