ASPSCR1 (Alveolar soft part sarcoma critical region 1)
| Written | 2001-08 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
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1. Identity
| Alias_names | General Information |
| Alias_symbol (synonym) | ASPS |
| ASPL | |
| UBXD9 | |
| UBXN9 | |
| TUG | |
| Other alias | ASPL (Alveolar soft part sarcoma locus) |
| HGNC (Hugo) | ASPSCR1 |
| LocusID (NCBI) | 79058 |
| Atlas_Id | 358 |
| Location | 17q25.3 [Link to chromosome band 17q25] |
| Location_base_pair | Starts at 81977550 and ends at 82017406 bp from pter ( according to hg19-Feb_2009) [Mapping ASPSCR1.png] |
 | |
| Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics | |
| Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
| ASPSCR1 (17q25.3) / COL5A3 (19p13.2) | ASPSCR1 (17q25.3) / HGS (17q25.3) | ASPSCR1 (17q25.3) / TFE3 (Xp11.23) | |
| TBCD (17q25.3) / ASPSCR1 (17q25.3) | TFE3 (Xp11.23) / ASPSCR1 (17q25.3) |
2. DNA/RNA
| Description | 1872 bp cDNA |
| Transcription | alternative splicing of 47 bp from exon 2 in the 5' untranslated region |
3. Protein
| Description | 476 amino acids; contains an UBX domain, which may be related to the ubiquitylation pathway |
| Expression | widely expressed in the adult; low expression in fetal tissues |
4. Implicated in
| Note | |
| Entity | Alveolar soft part sarcoma with ASPSCR1 - TFE3 fusion |
| Cytogenetics | der(X)t(X;17)(p11;q25) is consistently involved; it implicates: 1- the formation of a hybrid gene at the breakpoint, and also, 2- gain in Xp11-pter sequences, and loss of heterozygocity in 11q25-qter, with possible implications |
| Hybrid/Mutated Gene | 5' ASPSCR1-3' TFE3; the reciprocal 5' TFE3 - 3' ASPSCR1 is most often absent. ASPSCR1 is fused in frame to TFE3 exon 3 or 4 |
| Abnormal Protein | NH2 term ASPSCR1, fused to the C term of TFE3 |
| Oncogenesis | might combine the effect of a fusion protein to that of gene(s) dosage |
| Entity | primary renal ASPSCR1-TFE3 tumour |
| Disease | a subset of renal cell carcinoma, which presents with a combination of alveolar soft part sarcoma-like features and epithelial features is found to carry this anomaly |
| Cytogenetics | balanced t(X;17)(p11.2;q25), in contrast with what is found in the alveolar soft part sarcoma (see above) |
| Hybrid/Mutated Gene | 5' ASPSCR1-3' TFE3 |
| Abnormal Protein | NH2 term ASPSCR1, fused to the C term of TFE3 |
5. Bibliography
| Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents. |
| Argani P, Antonescu CR, Illei PB, Lui MY, Timmons CF, Newbury R, Reuter VE, Garvin AJ, Perez-Atayde AR, Fletcher JA, Beckwith JB, Bridge JA, Ladanyi M |
| The American journal of pathology. 2001 ; 159 (1) : 179-192. |
| PMID 11438465 |
| 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. |
| Ladanyi M, Lui MY, Antonescu CR, Krause-Boehm A, Meindl A, Argani P, Healey JH, Ueda T, Yoshikawa H, Meloni-Ehrig A, Sorensen PH, Mertens F, Mandahl N, van den Berghe H, Sciot R, Cin PD, Bridge J |
| Oncogene. 2001 ; 20 (1) : 48-57. |
| PMID 11244503 |
6. Citation
| This paper should be referenced as such : |
| Huret, JL |
| ASPSCR1 (alveolar soft part sarcoma critical region 1) |
| Atlas Genet Cytogenet Oncol Haematol. 2001;5(4):252-253. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://atlasgeneticsoncology.usal.es/classic/Genes/ASPSCR1ID358.html |
| Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 7 ] |
7. External links
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Jan 17 18:48:58 CET 2019 |
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