Gene Information
|
Gene Name
|
ASPSCR1 |
|
Gene ID
|
79058
|
|
Gene Full Name
|
ASPSCR1 tether for SLC2A4, UBX domain containing |
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Gene Alias
|
ASPCR1|ASPL|ASPS|RCC17|TUG|UBXD9|UBXN9 |
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Transcripts
|
ENSG00000169696
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
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Nucleoplasm;Vesicles, Plasma membrane;
|
|
Membrane Info
|
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins |
|
Uniport_ID
|
Q9BZE9
|
|
HGNC ID
|
HGNC:13825
|
|
OMIM ID
|
606236 |
|
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 stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011] |
Target gene [ASPSCR1] related to VISs
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 6015863 |
chr17 |
11 |
2 |
0 |
13 |
View |
Target gene [ASPSCR1] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE224047
|
RNA-seq |
10 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
GSE136189
|
Methylation profiling (Array) |
40 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - ASPSCR1 peak across samples
|
Peak Plot
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