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ASPSCR1

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Associated Diseases

Overview

Location [1]
17q25.3
Protein [2]
Tether containing UBX domain for GLUT4
Synonyms [1]
ASPS, UBXN9, ASPL, RCC17, TUG, UBXD9, ASPCR1

ASPSCR1 is altered in 0.11% of all cancers with alveolar soft part sarcoma, translocation-associated renal cell carcinoma, high grade ovarian serous adenocarcinoma, endometrial endometrioid adenocarcinoma, and unknown having the greatest prevalence of alterations [3].

ASPSCR1 GENIE Cases - Top Diseases

The most common alterations in ASPSCR1 are ASPSCR1-TFE3 Fusion (0.05%), ASPSCR1 D319_V323dup (0.49%), ASPSCR1 R251S (0.64%), ASPSCR1 R387L (0.44%), and ASPSCR1 T146M (0.44%) [3].

ASPSCR1 GENIE Cases - Top Alterations

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.