ASPSCR1 Back

alveolar soft part sarcoma chromosome region, candidate 1

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NCBI Description of ASPSCR1

The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found.

Community Annotation of ASPSCR1 Add / Edit ASPSCR1: Annotations

No community annotations yet for ASPSCR1.
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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

ASPSCR1 is highly significantly mutated in
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ASPSCR1 is significantly mutated in
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ASPSCR1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for ASPSCR1