Gene Name	COL6A3
Gene ID	1293
Gene Full Name	collagen type VI alpha 3 chain
Gene Alias	BTHLM1|BTHLM1C|DYT27|UCMD1|UCMD1C
Transcripts	ENSG00000163359
Virus	HPV
Gene Type	protein-coding
HPA Location Info	Endoplasmic reticulum;Vesicles;Secreted to extracellular matrix;
Membrane Info	Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
Uniport_ID	P12111
HGNC ID	HGNC:2213
OMIM ID	120250
Summary	This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]

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
5009522	chr2	96	70	12	178	View
5010680	chr2	96	70	12	178	View
5015636	chr2	54	33	4	91	View

Data ID	Experiment type	Sample number	Platform
S   GSE226620	scRNA-seq	30	HiSeq X Ten (Homo sapiens)
GSE169622	Methylation profiling (Array)	9	Infinium MethylationEPIC
GSE65858	Expression array	270	Illumina HumanHT-12 V4.0 expression beadchip
GSE55550	Expression array	155	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version)
GSE181805	Expression array	25	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE196215	RNA-seq	8	Illumina NovaSeq 6000 (Homo sapiens)
S   GSE164690	scRNA-seq	51	Illumina NextSeq 500 (Homo sapiens)
GSE138080	Expression array	35	Agilent-014850 Whole Human Genome Microarray 4x44K G4112F (Feature Number version)
GSE140662	Expression array	8	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE55542	Expression array	36	Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version)
C   GSE143026	ATAC-seq;Chip-seq;RNA-seq	30	Illumina HiSeq 2500 (Homo sapiens)
TCGA_CESC	DNA methylation sequencing;RNA-seq	288	TCGA
GSE51993	Expression array	48	Illumina Human v2 MicroRNA expression beadchip;Illumina HumanHT-12 V4.0 expression beadchip
S   GSE197461	scRNA-seq	16	Illumina NovaSeq 6000 (Homo sapiens)
GSE199029	Variation;RNA-seq	44	NanoString Human nCounter PanCancer IO360 Panel
GSE165883	RNA-seq	20	Illumina NextSeq 500 (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: GSE226620 - Gene expression in cell subsets
> Dataset: GSE164690 - Gene expression in cell subsets
> Dataset: GSE197461 - Gene expression in cell subsets