Gene Information
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Gene Name
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ATXN1 |
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Gene ID
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6310
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Gene Full Name
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ataxin 1 |
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Gene Alias
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ATX1|D6S504E|SCA1 |
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Transcripts
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ENSG00000124788
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Virus
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HBV |
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Gene Type
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protein-coding |
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HPA Location Info
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Nucleoplasm;Nucleoli, Cytosol; 
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Membrane Info
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Disease related genes, Human disease related genes, Predicted intracellular proteins |
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Uniport_ID
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P54253
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HGNC ID
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HGNC:10548
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OMIM ID
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601556 |
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Summary
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The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017] |
Target gene [ATXN1] 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 |
| 1020027 |
chr6 |
86 |
110 |
187 |
383 |
View |
Target gene [ATXN1] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
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GSE252863
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scRNA-seq |
10 |
Illumina HiSeq 2500 (Homo sapiens) |
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GSE236281
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RNA-seq |
12 |
Illumina MiSeq (Homo sapiens) |
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C GSE35465
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Chip-seq;RNA-seq |
6 |
Illumina HiSeq 2000 (Homo sapiens) |
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C GSE68402
|
Chip-seq |
26 |
Illumina MiSeq (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens) |
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S GSE247322
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scRNA-seq |
27 |
Illumina NovaSeq 6000 (Homo sapiens) |
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TCGA_LIHC_HBV
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DNA methylation sequencing;RNA-seq |
97 |
TCGA |
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C GSE270130
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Chip-seq |
27 |
Illumina NovaSeq 6000 (Homo sapiens) |
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GSE224901
|
RNA-seq |
21 |
Illumina NovaSeq 6000 (Homo sapiens) |
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GSE100400
|
Chip-seq;RNA-seq;4C_cccDNA |
31 |
Illumina NextSeq 500 (Homo sapiens);Illumina NextSeq 500 (Mus musculus) |
|
GSE173897
|
RNA-seq |
95 |
Illumina HiSeq 4000 (Homo sapiens) |
|
GSE262515
|
RNA-seq |
21 |
Illumina HiSeq 2500 (Homo sapiens);Illumina HiSeq 2500 (Mus musculus) |
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GSE110345
|
RNA-seq |
4 |
Illumina HiSeq 2500 (Homo sapiens) |
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C GSE131257
|
ATAC-seq;RNA-seq |
19 |
Illumina HiSeq 2500 (Homo sapiens) |
|
GSE94660
|
RNA-seq |
42 |
Illumina HiSeq 2500 (Homo sapiens) |
When the query gene is differentially changed in the dataset, a feature/violin plot will be displayed.
> Dataset: GSE247322 - Gene expression in cell subsets
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HBV Target gene Detail Information
