Hs05565344_cn

• Gene Symbol: LARGE-AS1
• Assay Reference Genome Location: Chr.22:33747941 on build GRCh38
• Cytoband: 22q12.3

Target Gene Details

• Entrez Gene ID: 100506195
• Gene Name: LARGE antisense RNA 1
• Gene Aliases: -
• Location: Chr.22:33724986-33750817 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LARGE-AS1	NR_038949.1
	NR_038950.1

Target Gene Details

• Entrez Gene ID: 9215
• Gene Name: LARGE xylosyl- and glucuronyltransferase 1
• Gene Aliases: LARGE, MDC1D, MDDGA6, MDDGB6
• Location: Chr.22:33162237-33922841 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LARGE1	NM_004737.4			NP_004728.1
	NM_133642.3			NP_598397.1
	XM_005261831.3			XP_005261888.1
	XM_005261832.3			XP_005261889.1
	XM_011530510.2			XP_011528812.1
	XM_011530514.2			XP_011528816.1
	AB011181.3			BAA25535.3
	AJ007583.1			CAA07571.1
	AK294766.1
	AK295636.1
	BC117425.1
	BC126404.1
	CR456510.1			CAG30396.1
	KJ534877.1
	KJ535033.1
	KJ535073.1
	KJ535074.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1055791	Chr.22:33426240 - 33763549 on Build GRCh38	Loss	LARGE-AS1 LARGE1 MIR4764
nsv524432	Chr.22:33723880 - 33750381 on Build GRCh38	Loss	LARGE-AS1 LARGE1
nsv459878	Chr.22:33710759 - 33830604 on Build GRCh38	Loss	LARGE-AS1 LARGE1
esv2763261	Chr.22:33435362 - 33892401 on Build GRCh38	Loss	LARGE-AS1 LARGE1 MIR4764
nsv1055203	Chr.22:33702431 - 33800698 on Build GRCh38	Loss	LARGE-AS1 LARGE1
esv3568379	Chr.22:33458829 - 33815605 on Build GRCh38	Loss	LARGE-AS1 LARGE1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

N-acetylglucosamine metabolic process
protein glycosylation
protein O-linked glycosylation
glycosphingolipid biosynthetic process
glycoprotein biosynthetic process
protein O-linked mannosylation
skeletal muscle tissue regeneration
muscle cell cellular homeostasis
skeletal muscle organ development

Function(s)

acetylglucosaminyltransferase activity
glucuronosyltransferase activity
transferase activity, transferring glycosyl groups
manganese ion binding
UDP-xylosyltransferase activity
xylosyltransferase activity