Gene Name	ATXN1
Gene ID	6310
Gene Full Name	ataxin 1
Gene Alias	ATX1|D6S504E|SCA1
Transcripts	ENSG00000124788
Virus	HIV
Gene Type	protein-coding
HPA Location Info	Nucleoplasm;Nucleoli, Cytosol;
Membrane Info	Disease related genes, Human disease related genes, Predicted intracellular proteins
Uniport_ID	P54253
HGNC ID	HGNC:10548
OMIM ID	601556
Summary	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]

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
4000404	chr6	86	115	288	489	View
4000435	chr6	384	42	38	464	View
4000515	chr6	97	123	185	405	View
4008179	chr6	12	3	1	16	View
4008503	chr6	12	3	0	15	View
4010757	chr6	8	0	0	8	View
4013922	chr6	1	2	0	3	View

Data ID	Experiment type	Sample number	Platform
C   GSE221688	Chip-seq;scATAC-Seq;scRNA-Seq	12	Illumina NovaSeq 6000 (Homo sapiens)
GSE99737	RNA-seq	9	Illumina HiSeq 2500 (Homo sapiens)
GSE144332	RNA-seq	75	NextSeq 550 (Homo sapiens)
GSE157829	scRNA-seq	7	Illumina HiSeq 2500 (Homo sapiens)
C   GSE165705	Chip-seq	30	Illumina NovaSeq 6000 (Homo sapiens)
GSE164264	RNA-seq	6	BGISEQ-500 (Homo sapiens)
C   GSE30738	Chip-seq	2	Illumina Genome Analyzer II (Homo sapiens)
GSE262621	RNA-seq	70	Illumina NovaSeq 6000 (Homo sapiens)
GSE128121	RNA-seq	16	Illumina HiSeq 4000 (Homo sapiens)
GSE162914	RNA-seq	211	Illumina HiSeq 2500 (Homo sapiens)
GSE187515	scRNA-seq	104	Illumina MiSeq (Homo sapiens);Illumina HiSeq 4000 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens)
GSE279982	Methylation profiling (Array)	576	Infinium MethylationEPIC
C   GSE144329	ATAC-seq	96	NextSeq 550 (Homo sapiens)
GSE205204	RNA-seq	14	Illumina NovaSeq 6000 (Homo sapiens)
GSE125686	RNA-seq	62	Illumina HiSeq 2000 (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens);Illumina NextSeq 500 (Homo sapiens)
S   GSE198339	scRNA-seq	8	Illumina NovaSeq 6000 (Homo sapiens)
GSE233747	scRNA-seq	40	Illumina NovaSeq 6000 (Homo sapiens)
C   GSE220859	Chip-seq	11	Illumina NovaSeq 6000 (Homo sapiens)
GSE165708	RNA-seq	100	Illumina HiSeq 4000 (Homo sapiens)
C   GSE211651	Chip-seq;RNA-seq;PRO-seq	39	Illumina NextSeq 500 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens)
GSE68028	MeDIP-chip	1	NimbleGen Human DNA Methylation 2.1M Deluxe Promoter Array [100929_HG19_Deluxe_Prom_Meth_HX1]
C   GSE100376	ATAC-seq	24	Illumina NextSeq 500 (Homo sapiens)
GSE167211	RNA-seq	1	Illumina HiSeq 2000 (Homo sapiens)
GSE165132	RNA-seq	56	NextSeq 550 (Homo sapiens)
C   GSE100266	ATAC-seq;Chip-seq;RNA-seq	32	Illumina HiSeq 2500 (Homo sapiens)
C   GSE165703	ATAC-seq	82	Illumina HiSeq 4000 (Homo sapiens)
GSE246082	RNA-seq	6	Illumina HiSeq 4000 (Homo sapiens)

• scRNA data
• Genome binding/occupancy profiling

When the query gene is differentially changed in the dataset, a feature/violin plot will be displayed.

> Dataset: GSE198339 - Gene expression in cell subsets