{"entity":{"id":"aspscr1","kind":"target","name":"ASPSCR1","aka":["ASPSCR1 tether for SLC2A4, UBX domain containing","Tether containing UBX domain for GLUT4","UBXD9","UBXN9"],"tldr":"ASPSCR1 (Tether containing UBX domain for GLUT4) is a gene. The public catalogues list it as a drug target and a fusion partner, and the evidence so far is association rather than a proven role. Tied to Sarcomas.","summary":"Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface. Enhances VCP methylation catalysed by VCPKMT.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.79, genetic association 0.09, somatic mutation 0.96). In OnCo, 1 product record names it (Cediranib).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13825","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13825"},{"label":"UniProt Q9BZE9","url":"https://www.uniprot.org/uniprotkb/Q9BZE9/entry"},{"label":"NCBI Gene 79058","url":"https://www.ncbi.nlm.nih.gov/gene/79058"},{"label":"Ensembl ENSG00000169696","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169696"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":["cediranib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: 1 OnCo product record names it; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ASPSCR1","role":["drug-target","fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:13825","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13825","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BZE9","url":"https://www.uniprot.org/uniprotkb/Q9BZE9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000169696","url":"https://platform.opentargets.org/target/ENSG00000169696/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: sarcoma 0.56 (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: 1 of 1 medicines aimed at it name a mutant, fusion, exon or hotspot in their mechanism (Cediranib), an alteration absent from normal cells. HPA ASPSCR1: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 4 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Cediranib"},{"label":"Human Protein Atlas ASPSCR1 tissue","url":"https://www.proteinatlas.org/ENSG00000169696-ASPSCR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000169696 associations","url":"https://platform.opentargets.org/target/ENSG00000169696/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13825","ensembl":"ENSG00000169696","uniprot":"Q9BZE9","entrez":"79058","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ladanyi et al, Oncogene, 2001, \"The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11244503/","biology":"Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface. Enhances VCP methylation catalysed by VCPKMT. Location: Endomembrane system; Endoplasmic reticulum-Golgi intermediate compartment membrane; Cytoplasm; Nucleus (UniProt). Locus 17q25.3 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.56 with sarcoma (MONDO_0005089)"],"targetClass":"other","prevalence":[]},"route":"/targets/aspscr1/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"}],"drug":[{"id":"cediranib","kind":"drug","name":"Cediranib","route":"/drugs/cediranib/"}]}}