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ASPSCR1 (Alveolar soft part sarcoma critical region 1)

Identity

Other namesASPL (Alveolar soft part sarcoma locus)
HGNC (Hugo) ASPSCR1
LocusID (NCBI) 79058
Location 17q25.3
Location_base_pair Starts at 79935426 and ends at 79975282 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

DNA/RNA

Description 1872 bp cDNA
Transcription alternative splicing of 47 bp from exon 2 in the 5' untranslated region

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

Implicated in

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
  

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945 MedulloblastomaID5065 rhab5004

External links

Nomenclature
HGNC (Hugo)ASPSCR1   13825
Cards
AtlasASPSCR1ID358
Entrez_Gene (NCBI)ASPSCR1  79058  alveolar soft part sarcoma chromosome region, candidate 1
GeneCards (Weizmann)ASPSCR1
Ensembl (Hinxton)ENSG00000169696 [Gene_View]  chr17:79935426-79975282 [Contig_View]  ASPSCR1 [Vega]
ICGC DataPortalENSG00000169696
cBioPortalASPSCR1
AceView (NCBI)ASPSCR1
Genatlas (Paris)ASPSCR1
WikiGenes79058
SOURCE (Princeton)NM_001251888 NM_024083
Genomic and cartography
GoldenPath (UCSC)ASPSCR1  -  17q25.3   chr17:79935426-79975282 +  17q25   [Description]    (hg19-Feb_2009)
EnsemblASPSCR1 - 17q25 [CytoView]
Mapping of homologs : NCBIASPSCR1 [Mapview]
OMIM606236   606243   
Gene and transcription
Genbank (Entrez)AF324219 AK057403 AK057851 AK090682 AK126967
RefSeq transcript (Entrez)NM_001251888 NM_024083
RefSeq genomic (Entrez)AC_000149 NC_000017 NC_018928 NG_030375 NT_010663 NW_001838459 NW_004929408
Consensus coding sequences : CCDS (NCBI)ASPSCR1
Cluster EST : UnigeneHs.298351 [ NCBI ]
CGAP (NCI)Hs.298351
Alternative Splicing : Fast-db (Paris)GSHG0012911
Alternative Splicing GalleryENSG00000169696
Gene ExpressionASPSCR1 [ NCBI-GEO ]     ASPSCR1 [ SEEK ]   ASPSCR1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BZE9 (Uniprot)
NextProtQ9BZE9  [Medical]
With graphics : InterProQ9BZE9
Splice isoforms : SwissVarQ9BZE9 (Swissvar)
Domaine pattern : Prosite (Expaxy)UBX (PS50033)   
Domains : Interpro (EBI)TUG/UBX4 [organisation]   Ubiquitin-rel_dom [organisation]   UBX_dom [organisation]  
Related proteins : CluSTrQ9BZE9
Domain families : Pfam (Sanger)TUG-UBL1 (PF11470)    UBX (PF00789)   
Domain families : Pfam (NCBI)pfam11470    pfam00789   
Domain families : Smart (EMBL)UBX (SM00166)  
DMDM Disease mutations79058
Blocks (Seattle)Q9BZE9
Human Protein AtlasENSG00000169696 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9BZE9
HPRD06947
IPIIPI00332071   IPI00065276   IPI00787285   IPI00385430   
Protein Interaction databases
DIP (DOE-UCLA)Q9BZE9
IntAct (EBI)Q9BZE9
FunCoupENSG00000169696
BioGRIDASPSCR1
InParanoidQ9BZE9
Interologous Interaction database Q9BZE9
IntegromeDBASPSCR1
STRING (EMBL)ASPSCR1
Ontologies - Pathways
Ontology : AmiGOmolecular_function  protein binding  cellular_component  nucleus  cytosol  intracellular protein transport  biological_process  cytoplasmic side of plasma membrane  endomembrane system  vesicle membrane  extrinsic component of membrane  glucose homeostasis  regulation of glucose import  perinuclear region of cytoplasm  membrane organization  
Ontology : EGO-EBImolecular_function  protein binding  cellular_component  nucleus  cytosol  intracellular protein transport  biological_process  cytoplasmic side of plasma membrane  endomembrane system  vesicle membrane  extrinsic component of membrane  glucose homeostasis  regulation of glucose import  perinuclear region of cytoplasm  membrane organization  
Pathways : KEGGTranscriptional misregulation in cancer   
Protein Interaction DatabaseASPSCR1
Wikipedia pathwaysASPSCR1
Gene fusion - rearrangments
Rearrangement : COSMICASPSCR1 [17q25.3]  -  TFE3 [Xp11.23]  
  [COSF393] [COSF394] [COSF395] [COSF396] [COSF814] 
Rearrangement : COSMICTFE3 [Xp11.23]  -  ASPSCR1 [17q25.3]  
  [COSF769] [COSF782] [COSF797] [COSF798] [COSF838] [COSF875] 
Rearrangement : TICdbASPSCR1 [17q25.3]  -  TFE3 [10q11.21]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ASPSCR1
snp3D : Map Gene to Disease79058
SNP (GeneSNP Utah)ASPSCR1
SNP : HGBaseASPSCR1
Genetic variants : HAPMAPASPSCR1
Exome VariantASPSCR1
1000_GenomesASPSCR1 
ICGC programENSG00000169696 
Cancer Gene: CensusASPSCR1 
Somatic Mutations in Cancer : COSMICASPSCR1 
CONAN: Copy Number AnalysisASPSCR1 
Mutations and Diseases : HGMDASPSCR1
Mutations and Diseases : intOGenASPSCR1
Genomic VariantsASPSCR1  ASPSCR1 [DGVbeta]
dbVarASPSCR1
ClinVarASPSCR1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM606236    606243   
MedgenASPSCR1
GENETestsASPSCR1
Disease Genetic AssociationASPSCR1
Huge Navigator ASPSCR1 [HugePedia]  ASPSCR1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneASPSCR1
Homology/Alignments : Family Browser (UCSC)ASPSCR1
Phylogenetic Trees/Animal Genes : TreeFamASPSCR1
Chemical/Protein Interactions : CTD79058
Chemical/Pharm GKB GenePA25058
Clinical trialASPSCR1
Cancer Resource (Charite)ENSG00000169696
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed31 Pubmed reference(s) in Entrez
CoreMineASPSCR1
iHOPASPSCR1
OncoSearchASPSCR1

Bibliography

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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written08-2001Jean-Loup Huret

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 online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/ASPSCR1ID358.html

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indexed on : Tue Aug 26 15:28:05 CEST 2014

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