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|Synonyms||c-ros-1 | MCF3 | ROS|
|Gene Description||ROS1, ROS proto-oncogene 1, receptor tyrosine kinase, is an orphan receptor tyrosine kinase that may activates multiple pathways involved in cell survival and transformation (PMID: 23719267, PMID: 32327173). ROS1 fusion proteins frequently lead to constitutive activation of Ros1 signaling and have been identified in glioblastoma, non-small cell lung cancer, cholangiocarcinoma, ovarian cancer, gastric adenocarcinoma, colorectal cancer, inflammatory myofibroblastic tumor, angiosarcoma, glioma, and epithelioid hemangioendothelioma (PMID: 23719267, PMID: 30262706, PMID: 30171048, PMID: 3004937), and ROS1 mutations are often associated with acquired resistance to inhibition (PMID: 31256210).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|act mut||unknown||gain of function||ROS1 act mut indicates that this variant results in a gain of function in the Ros1 protein. However, the specific amino acid change has not been identified.|
|fusion||fusion||unknown||ROS1 fusion indicates a fusion of the ROS1 gene, but the fusion partner is unknown.|
|inact mut||unknown||loss of function||ROS1 inact mut indicates that this variant results in a loss of function of the Ros1 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||ROS1 mutant indicates an unspecified mutation in the ROS1 gene.|
|rearrange||unknown||unknown||ROS1 rearrange indicates an unspecified rearrangement of the ROS1 gene.|
|G514fs||frameshift||loss of function - predicted||ROS1 G514fs results in a change in the amino acid sequence of the Ros1 protein beginning at aa 514 of 2347, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the majority of the extracellular domain and the entire transmembrane and cytoplasmic domains (UniProt.org), G514fs is predicted to lead to a loss of Ros1 protein function.|
|P1020fs||frameshift||loss of function - predicted||ROS1 P1020fs results in a change in the amino acid sequence of the Ros1 protein beginning at aa 1020 of 2347, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), P1020fs is predicted to lead to a loss of Ros1 protein function.|