Gene Name	CASQ1
Gene ID	844
Gene Full Name	calsequestrin 1
Gene Alias	CASQ|CSQ1|PDIB1|VMCQA
Transcripts	ENSG00000143318
Virus	EBV
Gene Type	protein-coding
HPA Location Info	Nucleoplasm, Mitochondria;Intracellular and membrane;
Membrane Info	Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Uniport_ID	P31415
HGNC ID	HGNC:1512
OMIM ID	114250
Summary	This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]

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
3000510	chr1	7	7	0	14	View

Data ID	Experiment type	Sample number	Platform
GSE42867	Expression array	12	[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
C   GSE246060	Chip-seq	26	Illumina NovaSeq 6000 (Homo sapiens)
GSE45919	Expression array	24	Illumina HumanHT-12 V4.0 expression beadchip
GSE198332	Methylation profiling (Array)	7	Infinium MethylationEPIC
GSE223328	Expression array	16	Agilent-072363 SurePrint G3 Human GE v3 8x60K Microarray 039494 [Probe Name Version]
GSE208281	RNA-seq	50	Illumina NextSeq 500 (Homo sapiens)
GSE100458	Expression array	14	[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array [CDF: Brainarray HGU133Plus2_Hs_ENTREZG_v21]
GSE165194	RNA-seq	3	Illumina NextSeq 500 (Homo sapiens)
C   GSE246059	ATAC-seq	8	Illumina NextSeq 500 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens)
GSE177046	RNA-seq	6	Illumina HiSeq 2000 (Homo sapiens)
GSE135644	Expression array	10	Sentrix Human-6 v2 Expression BeadChip
C   GSE225248	Chip-seq	12	Illumina NextSeq 500 (Homo sapiens)
GSE102203	Expression array	10	[HuGene-2_0-st] Affymetrix Human Gene 2.0 ST Array [probe set (exon) version]
GSE85599	Expression array	17	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE12452	Expression array	41	[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
GSE58240	Expression array	32	Illumina HumanHT-12 V4.0 expression beadchip
E   GSE181906	RNA-seq	24	Illumina NovaSeq 6000 (Homo sapiens)

• Expression profiling
• Genome binding/occupancy profiling

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

> Dataset: GSE181906 - CASQ1 expression across samples

Volcano Plot

Bar Plot