√ aspscr1 gene 832220-Aspscr1 gene
Fusion gene information Fusion gene name ASPSCR1_HGS Fusion gene ID 3028 Hgene Tgene Gene symbol ASPSCR1 HGS Gene ID 9146 Gene name ASPSCR1, UBX ASPSCR1 160 Annotation score Annotation score1 out of 5 The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome This score cannot be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given proteinType protein_coding_gene Location Chr 11 Mapping Details/Browsers Description Human ortholog(s) of this gene implicated in alveolar soft part sarcoma
Figure 5 From Alveolar Soft Part Sarcoma Asps Semantic Scholar
Aspscr1 gene
Aspscr1 gene-Phenotype data for mouse gene Aspscr1 Discover Aspscr1's significant phenotypes, expression, images, histopathology and more Data for gene Aspscr1 is all freely available for downloadFull data view for gene ASPSCR1;
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ASPSCR1 (ASPSCR1 Tether For SLC2, UBX Domain Containing) is a Protein Coding gene Diseases associated with ASPSCR1 include Alveolar Soft Part Sarcoma and Renal Cell Carcinoma, Xp11AssociatedAmong its related pathways are Vesiclemediated transport and Translocation of GLUT4 to the plasma membraneView mouse Aspscr1 Chr with phenotypes, sequences, polymorphisms, proteins, references, function, expressionGene Aspscr1 OTTMUSG Description alveolar soft part sarcoma chromosome region, candidate 1 (human) Location Chromosome 11 1,672,9731,709,447 forward strand About this gene This gene has 22 transcripts (splice variants) and 1 orthologue Transcripts Show transcript table Hide transcript table Name
Oncogenic rearrangements of the TF transcription factor gene are found in two distinct human cancers These include ASPSCR1TF in all cases of alveolar soft part sarcoma (ASPS) and ASPSCR1TF, PRCCTF, SFPQTF and others in a subset of paediatric and adult RCCs Here we examined the functiDescription Homo sapiens ASPSCR1 tether for SLC2, UBX domain containing (ASPSCR1), transcript variant 2, mRNA (from RefSeq NM_) RefSeq Summary (NM_) 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 muscleAspscr1 gene expression in Bgee We are happy to announce that we have released the new Bgee 15 version as a beta test
ASPSCR1 (arrow) was detected using the purified antibody ASPSCR1 Antibody flow cytometry of HeLa cells (right histogram) compared to a negative control cell (left histogram) FITCconjugated goatantirabbit secondary antibodies were used for the analysisOncoKB is a precision oncology knowledge base developed at Memorial Sloan Kettering Cancer Center that contains biological and clinical information about genomic alterations in cancerNextday shipping cDNA ORF clones derived from ASPSCR1 ASPSCR1, UBX domain containing tether for SLC2 available at GenScript, starting from $9900
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Also known as ASPL, UBXD9, TUG, UBXN9, ASPS;3 ASPSCR1 TEXT A number sign (#) is used with this entry because some cases of alveolar soft part sarcoma have been found to be caused by fusion of the ASPSCR1 () and TF () genes Description Alveolar soft part sarcoma is an unusual tumor with highly characteristic histopathology and ultrastructureASPSCR1 Clinically Actionable Alternate Names ASPSCR1, UBX DOMAIN CONTAINING TETHER FOR SLC2 ASPSCR1 ASPCR1 ASPL ASPS RCC17 TUG UBXD9 UBXN9 135 ENSG OTTHUMG
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Human Gene ASPSCR1 (uc002kcy3) Description Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA RefSeq Summary (NM_) The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4)Gene/Locus name ASPSCR1 (also called ASPS,ASPL,UBXD9,UBXN9,TUG) Long Name ASPSCR1 tether for SLC2, UBX domain containing (OMIM ) Laboratories Xing Genomic Services Xing Cancer Care QLD (test Comprehensive Cancer Panel )Full name ASPSCR1 tether for SLC2, UBX domain containing;
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Gene Aspscr1 Species Mouse Transcripts 3 RefSeqs (NM) Transcript Type Coding Product Type Silencer® Select Availability Made to Order Catalog # StandardZDBGENE Name ASPSCR1 tether for SLC2, UBX domain containing Symbol aspscr1 Nomenclature History Previous Names zgc;Context PubMed ASPSCR1 Title/Abstract AND TF Title/Abstract AND fusion Title/Abstract Functional or gene categories assigned by FusionGDB annotation Oncogene involved fusion gene, inframe and retained their domain * DoF score (Degree of Frequency) = # partners X # break points X # cancer types
Aspscr1 Alveolar Soft Part Sarcoma Critical Region 1
Chromophobe Renal Cell Carcinoma
Tethering protein that sequesters GLUT4containing vesicles in the cytoplasm in the absence of insulin Modulates the amount of GLUT4 that is available at the cell surface (By similarity) Enhances VCP methylation catalyzed by VCPKMT The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4) This protein is a tether, which sequestersHUMAN PROTEIN ATLAS SUMMARYi General description of the gene and the encoded protein (s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project Proteini Full gene name according to HGNC ASPSCR1, UBX domain containing tether for SLC2 Gene nameiASPSCR1 is altered in 011% of all cancers with alveolar soft part sarcoma, translocationassociated renal cell carcinoma, high grade ovarian serous adenocarcinoma, endometrial endometrioid adenocarcinoma, and unknown having the greatest prevalence of alterations
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Figure 2 From Molecular Genetics And Cellular Features Of Tfe3 And Tfeb Fusion Kidney Cancers Semantic Scholar
Hybrid/Mutated Gene 5' ASPSCR13' TF Abnormal Protein NH2 term ASPSCR1, fused to the C term of TF Bibliography Primary renal neoplasms with the ASPLTF gene fusion of alveolar soft part sarcoma a distinctive tumor entity previously included among renal cell carcinomas of children and adolescentsIn addition to wildtype TF, ASPSCR1TF fusion transcripts (three type 1 and two type 2 transcripts) were detected in all cases Conclusions Molecular confirmation of ASPSCR1TF gene fusion is applicable to routinely processed archival and diagnostic tumour samples and aids in the differential diagnosis of ASPS As for gene abnormality, ASPSCR1TF fusion gene is observed in all ASPS cases To understand the exact mechanisms of ASPSCR1TF and tumorigenesis of ASPS, we have developed an ex vivo mouse model for human ASPS (Tanaka et al, Cancer Res 17;77(4)
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Translocation t (X;17) (p11;q25) with TF forms a ASPSCR1TF fusion protein 1 Publication Manual assertion based on experiment in i Ref1 "The der (17)t (X;17) (p11;q25) of human alveolar soft part sarcoma fuses the TF transcription factor gene to ASPL, aGENERAL INFORMATIONi General description of the gene and the encoded protein (s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project Gene namei Official gene symbol, which is typically a short form of the gene name, according to HGNC ASPSCR1Alveolar soft part sarcoma with ASPSCR1 TF fusion Cytogenetics der (X)t (X;17) (p11;q25) is consistently involved;
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ASPSCR1 gene product ASPL, ASPS, TUG, UBXD9, UBXN9 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 membraneASPSCR1TF In order to characterize the fusion gene associated with ASPS and its role in sarcomagenesis, we created a mouse allele designed to express ASPSCR1TF conditionally Briefly, the Rosa26LSLAT3 allele was generated by isolating the type 2 ASPSCR1TF fusion gene transcript from total RNA obtained from a human ASPSGene symbol ASPSCR1 Gene name alveolar soft part sarcoma chromosome region, candidate 1 Chromosome 17 Chromosomal band q25 Imprinted
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Census gene This is a known cancer gene, from Tier 1 of the Cancer Gene Census Tier 1 genes have documented evidence of their relevance to cancer This is NOT an expert curated gene Mouse insertional mutagenesis experiments DO NOT support the designation of ASPSCR1 as a cancer causing gene This gene has a cancer hallmarkCompare & Order ASPSCR1 plasmids, CDNA clones, ORF clones and more genomics products Wide variety of Top suppliers Highquality customer supportBiological context of ASPSCR1 In two young girls, we demonstrate that this translocation results in the fusion of a novel gene, designated RCC17, at chromosome 17q25, to the transcription factor TF located on the Xp11 chromosomal region ;
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Penzel, R Aims Alveolar soft part sarcoma (ASPS) is a rare soft tissue tumour with uniqueSequence variants and/or copy number variants (deletions/duplications) within the ASPSCR1 gene will be detected with >99% sensitivity Variants classified as unknown significance (VUS), likely pathogenic, or pathogenic will be reported Benign and liCases with ASPSCR1TF, SFPQTF, PRCCTF, and NONOTF gene fusion showed a wide variability in morphologic features, including invasive tubulopapillary pattern simulating collecting duct carcinoma, extensive calcification and ossification, and overlapping and high columnar cells with nuclear grooves mimicking tall cell variant of papillary thyroid carcinoma
Rcsb Pdb 5ifs Quantitative Interaction Mapping Reveals An Extended Ubiquitin Regulatory Domain In Aspl That Disrupts Functional P97 Hexamers And Induces Cell Death
Combining Integrated Genomics And Functional Genomics To Dissect The Biology Of A Cancer Associated Aberrant Transcription Factor The Aspscr1 Tfe3 Fusion Oncoprotein Abstract Europe Pmc
In this study, we demonstrate that essentially all alveolar soft part sarcomas, which harbor the ASPSCR1TF gene fusion, diffusely expressAll transcript variants in gene ASPSCR1 The variants shown are described using the NM_ transcript reference sequence Legend Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it stillFunctional Associations ASPSCR1 has 4,6 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 77 datasets
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Nextday shipping cDNA ORF clones derived from ASPSCR1 ASPSCR1, UBX domain containing tether for SLC2 available at GenScript, starting from $9900It implicates 1 the formation of a hybrid gene at the breakpoint, and also, 2 gain in Xp11pter sequences, and loss of heterozygocity in 11q25qter, with possible implications Hybrid/Mutated Gene ASPSCR1 expression was also found in all cancer cell lines tested Independently, Heimann et al (01) identified the ASPSCR1 gene, which they called RCC17, partnered with TF in two 5yearold Belgian girls of African origin in whom papillary renal cell carcinomas () carried the translocation t(X;17)(p112;q25)
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ASPSCR1 Gene Record Summary; Gene ID , updated on 16Oct21 Summary 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 Detection of the ASPSCR1–TF gene fusion in paraffin‐embedded alveolar soft part sarcomas Detection of the ASPSCR1–TF gene fusion in paraffin‐embedded alveolar soft part sarcomas Aulmann, S;
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ASPSCR1 gene (UBXN9 gene), aka alveolar soft part sarcoma chromosome region, candidate 1, is one of our human genes, belonging to the UBX domain containing family (UBXN gene group)My Genes Showing 25 of 1,900 Results for ASPSCR1 Search Time 0 ms Showing 25 50 100 0 500 See All of 1,900 Results for ASPSCR1 Search Time 0 msPlease quote AceView a comprehensive cDNAsupported gene and transcripts annotation, Genome Biology 06, 7(Suppl 1)S12 Map on chromosome 17, links to other databases and other names Map This gene ASPSCR1 maps on chromosome 17, at 17q253 according to Entrez Gene
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Xp11 translocation renal cell carcinomas harbor chromosome translocations involving the Xp11 breakpoint, resulting in gene fusions involving the TF gene The most common subtypes are the ASPSCR1The ASPL cDNA open reading frame encodes a predicted protein of 476 amino acids that contains within its carboxyterminal portion of a UBX
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Figure 5 From Alveolar Soft Part Sarcoma Asps Semantic Scholar
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