Hs02123282_cn

• Gene Symbol: EXT1
• Assay Reference Genome Location: Chr.8:117804784 on build GRCh38
• Cytoband: 8q24.11

Target Gene Details

• Entrez Gene ID: 2131
• Gene Name: exostosin glycosyltransferase 1
• Gene Aliases: EXT, LGCR, LGS, TRPS2, TTV
• Location: Chr.8:117797496-118111819 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EXT1	NM_000127.2	10	2766	NP_000118.2
	AK130054.1	5	1543
	AK313129.1	10	2514
	BC001174.1	10	2159	AAH01174.1
	S79639.1	10	2644	AAB62283.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831439	Chr.8:117735113 - 117886879 on Build GRCh38	Gain	EXT1
nsv831438	Chr.8:117667657 - 117811361 on Build GRCh38	Loss	EXT1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

skeletal system development
ossification
glycosaminoglycan biosynthetic process
protein glycosylation
signal transduction
gastrulation
axon guidance
endoderm development
mesoderm development
heparan sulfate proteoglycan biosynthetic process
heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
olfactory bulb development
cellular polysaccharide biosynthetic process
embryonic skeletal joint development

Function(s)

acetylglucosaminyltransferase activity
glucuronosyltransferase activity
transferase activity, transferring glycosyl groups
heparan sulfate N-acetylglucosaminyltransferase activity
protein homodimerization activity
metal ion binding
protein heterodimerization activity
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity