In 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 Aspscr1 2 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 protein Alveolar soft part sarcoma (ASPS) is a rare malignancy that, since its initial description, remains a neoplasm of uncertain histogenesis The disease‐defining molecular event characterizing the diagnosis of ASPS is the ASPSCR1‐TF fusion gene Following identification of an index case of ASPS with a novel TF fusion partner, we performed a retrospective review to
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Aspscr1 gene
Aspscr1 gene-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 typesIt 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
The Biological Function And Clinical Significance Of Sf3b1 Mutations In Cancer Biomarker Research Full Text
Description 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 muscleThe reciprocal 5' TF 3' ASPSCR1 is most often absent ASPSCR1 is fused in frame to TF exon 3 or 4 Abnormal Protein NH2 term ASPSCR1, fused to the C term of TF Oncogenesis might combine the effect of a fusion protein to that of gene(s) dosage Entity primary renal ASPSCR1TF tumour DiseaseOncoKB is a precision oncology knowledge base developed at Memorial Sloan Kettering Cancer Center that contains biological and clinical information about genomic alterations in cancer
Functional 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 datasetsDisease ASPSCR1/TF renal cell carcinomas harbor the same gene fusion as alveolar soft part sarcoma, but belong to the family of Xp11 translocation RCC Xp11 translocation renal cell carcinoma (RCCs) harbor gene fusions involving TF transcription factor The The t (6;11) RCCs harbor a specific MALAT1 (Alpha) TFEB gene fusionOther interactions of ASPSCR1 The der (17)t (X;17) (p11;q25) of human alveolar soft part sarcoma fuses the TF transcription factor gene to ASPL, a novel gene at 17q25 8 The status of the TP53 alleles was followed at different stages by fluorescence in situ hybridization (FISH) and allelespecific PCR ( ASPCR) on total DNA, as well as flow
A conditional expression in mice of the fusion gene ASPSCR1TF from human alveolar soft part sarcoma (ASPS) generated a model that recapitulates the human tumor histologically and by expression profile ASPL is a cofactor of1 ASPSCR1 ASPSCR1 Tether For SLC2, UBX Domain Containing Protein Coding 41 GC17P 47 2 TF Transcription Factor Binding To IGHM Enhancer 3ASPSCR1 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 membrane
Karen Pinto Dnb Frcpath All You Need To Know About Tfe3 Gene Sometimes Called Tfea Image 2 Tumours With Tfe3 Gene Fusions Ihc As Well As Those Which
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The exact same chromosomal changes are found in a rare form of kidney cancer, ASPSCR1TF translocation renal cell carcinoma in which the chromosomal translocation is "balanced" as opposed to the "unbalanced" translocation seen in ASPS This is a cancer of an entirely different nature Researchers are unsure why the ASPSCR1TF gene fusion causes ASPS in some people and aAspscr1 Gene Name alveolar soft part sarcoma chromosome region, candidate 1 (human) Gene Aliases K01Rik, ASPC, ASPCR1, ASPL, ASPS, RCC17, TUG Chromosome Location Chr11 on Build GRCm38 UniGene ID Mm2940 Species Mouse Species Specific ID (Flybase ID)The ASPSCR1 fusion gene–expressing ex vivo model defines tumorigenic activity of the Cterminal domains in TFE/MITF family proteins TF belongs to the TFE/MITF transcription protein family, which has been found to be involved in human cancer and within which the DNA binding bHLH leucine zipper motif is well conserved
Aspscr1 Wikipedia
Aspscr1 Wikipedia
Gene names and symbols associated with ASPSCR1 ASPSCR1, UBX domain containing tether for SLC2 (ASPSCR1) antibody alveolar soft part sarcoma chromosome region, candidate 1 S homeolog (aspscr1S) antibodyAlveolar soft part sarcoma with ASPSCR1 TF fusion Cytogenetics der (X)t (X;17) (p11;q25) is consistently involved;The gene view histogram is a graphical view of mutations across ASPSCR1 These mutations are displayed at the amino acid level across the full length of the gene by default Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left
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The Biological Function And Clinical Significance Of Sf3b1 Mutations In Cancer Biomarker Research Full Text
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 ASPSCR1View mouse Aspscr1 Chr with phenotypes, sequences, polymorphisms, proteins, references, function, expression 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)
Aspscr1 Recombinant Protein
Aspscr1 Alveolar Soft Part Sarcoma Chromosome Region Candidate 1 Human Gene Report Biogps
Type protein_coding_gene Location Chr 11 Mapping Details/Browsers Description Human ortholog(s) of this gene implicated in alveolar soft part sarcomaASPSCR1 (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 analysisAspscr1 Addgene Alerts Receive email alerts when new plasmids with this gene become available Log in to subscribe to Addgene Alerts Description alveolar soft part sarcoma chromosome region, candidate 1 (human) Also known as K01Rik, ASPC,
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Oral Alveolar Soft Part Sarcoma In Childhood And Adolescence Report Of Two Cases And Review Of Literature Springerlink
Detection of the ASPSCR1TF fusion transcript and TF Immunohistochemistry The molecular signature of ASPS is a specific der(17)t(X;17)(p112;q25), which results in the fusion of either exon 6 (type 1) or exon 5 (type 2) of the TF transcription factor gene (Xp11) with ASPSCR1 (17q25), usually in a nonbalanced manner although reciprocal translocations have31 ASPSCR1 Silencer Select Predesigned, Validated, and Custom siRNA in Standard, HPLC, and Invivo Ready PuritiesASPSCR1 A gene on chromosome 17q253 that encodes a ubiquitous tethering protein highly expressed in the testes, heart, skeletal muscle and pancreas;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
Cediranib In Patients With Alveolar Soft Part Sarcoma Casps A Double Blind Placebo Controlled Randomised Phase 2 Trial The Lancet Oncology
Aspscr1 Alveolar Soft Part Sarcoma Critical Region 1
By conditionally expressing in mice the fusion gene ASPSCR1TF from human alveolar soft part sarcoma (ASPS), we generated a model that recapitulates the human tumor histologically and by expression profile, enabling study of the conditions supportive of tumor development Mouse tumors demonstrated angiogenic gene expression in the frank absence of hypoxia and wereSequence 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 liThis 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 TF gene results in a ASPSCR1TF fusion protein in
Aspscr1 Protein Expression Summary The Human Protein Atlas
Alveolar Soft Part Sarcomas Molecular Pathogenesis And Implications For Novel Targeted Therapies
Hybrid/Mutated Gene 5' ASPSCR13' TF;The translocation fuses the TF transcription factor gene at Xp112 to ASPL (ASPSCR1), a novel gene on chromosome 17q25 and presents as type 1 and 2 variants involving the fusion of the firstAspscr1 Q9BZE9 Transcriptional coactivator stimulating NR5A1 andliganddependent NR1H3/LXRA and PPARG transcriptional activitiesEnhances the DNAbinding activity of ATF1, ATF2, CREB1 and NR5A1Regulates nitric oxid synthase activity probably by sequesteringcalmodulin in the cytoplasm
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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)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 download This results in a fusion of the transcription factor (TF) gene located at Xp11 with the ASPS chromosome region, candidate 1 gene at 17q25 (ASPSCR1, or ASPL), creating the ASPSCR1TF translocation , ASPSCR1TF is the driving oncogenic
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Symbol Description Category GIFtS GC id Score; 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, a novel geneThe ASPSCR1TF gene fusion is the same gene fusion found in alveolar soft part sarcoma (ASPS), a rare pediatric neoplasm of uncertain histogenesis However, the translocation in Xp11 translocation RCC is balanced, which may contribute to the differences seen at the clinical and histopathologic levels between Xp11 translocation RCC and ASPS
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Our results demonstrate that the most sensitive marker of alveolar soft part sarcoma was the presence of the ASPSCR1TF fusion transcript Thus, detection of the ASPSCR1TF fusion transcript was considered applicable for formalinfixed, paraffinembedded tissues with superior sensitivity as compared with TF immunohistochemical stainingASPSCR1 Name ASPSCR1 tether for SLC2, UBX domain containing Synonyms NCBI Gene IDs Homo sapiens 638 Mus musculus Gallus gallusHomologs of the Aspscr1 gene The Aspscr1 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, and frog Orthologs from Annotation Pipeline 355 organisms have orthologs with human gene Aspscr1;
Aspscr1 Gene Genecards Aspc1 Protein Aspc1 Antibody
Establishment And Characterization Of Ncc Asps1 C1 A Novel Patient Derived Cell Line Of Alveolar Soft Part Sarcoma Springerlink
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 membraneAn important paralog of this gene is UBXN6ASPSCR1 tether for SLC2, UBX domain containing Aliases TUG, ASPL, ASPS, RCC17, UBXD9, UBXN9, ASPCR1 Location 17q253 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 Alveolar soft part sarcoma (ASPS) is a rare malignancy that, since its initial description, remains a neoplasm of uncertain histogenesis The diseasedefining molecular event characterizing the diagnosis of ASPS is the ASPSCR1TF fusion gene Following identification of an index case of ASPS with
The Fusion Oncogene Aspscr1 Tfe3 Directs Epigenetic Induced Autophagy In Alveolar Soft Part Sarcoma Barrott 19 The Faseb Journal Wiley Online Library
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ZDBGENE Name ASPSCR1 tether for SLC2, UBX domain containing Symbol aspscr1 Nomenclature History Previous Names zgc;GENERAL 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 ASPSCR1
Modeling Alveolar Soft Part Sarcoma Unveils Novel Mechanisms Of Metastasis Cancer Research
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Primary Alveolar Soft Part Sarcoma Of Cheek Report Of A Case And Review Of The Literature Springerlink
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