Hs04819467_cn

• Gene Symbol: UGT8
• Assay Reference Genome Location: Chr.4:114617432 on build GRCh38
• Cytoband: 4q26

Target Gene Details

• Entrez Gene ID: 7368
• Gene Name: UDP glycosyltransferase 8
• Gene Aliases: CGT, UGT4
• Location: Chr.4:114597789-114687914 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UGT8	NM_001128174.2			NP_001121646.1
	NM_001322112.1			NP_001309041.1
	NM_001322113.1			NP_001309042.1
	NM_001322114.1			NP_001309043.1
	AK127970.1
	AK225763.1
	BC075069.2			AAH75069.1
	BP219039.1
	DA295156.1
	DC335502.1
	U62899.1			AAC51187.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759275	Chr.4:114420923 - 114669169 on Build GRCh38	Loss	UGT8 MIR577
esv2752021	Chr.4:114368240 - 114698514 on Build GRCh38	Gain	UGT8 MIR577
esv3601829	Chr.4:114512988 - 114663121 on Build GRCh38	Gain	UGT8 MIR577
esv3601835	Chr.4:114600577 - 114660419 on Build GRCh38	Gain	UGT8 MIR577
nsv524515	Chr.4:113918114 - 114701151 on Build GRCh38	Gain	UGT8 ARSJ MIR577
nsv830039	Chr.4:114559965 - 114747581 on Build GRCh38	Gain	UGT8 MIR577

More Information

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

Gene Ontology Categories:

Process(es)

protein localization to paranode region of axon
galactosylceramide biosynthetic process
glycosphingolipid metabolic process
cytoskeleton organization
central nervous system development
peripheral nervous system development
flavonoid biosynthetic process
paranodal junction assembly
neuron projection morphogenesis
flavonoid glucuronidation

Function(s)

2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity
UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity
glucuronosyltransferase activity
N-acylsphingosine galactosyltransferase activity