Hs01180172_cn

• Gene Symbol: GALNT8
• Assay Reference Genome Location: Chr.12:4744591 on build GRCh38
• Cytoband: 12p13.32

Target Gene Details

• Entrez Gene ID: 26290
• Gene Name: polypeptide N-acetylgalactosaminyltransferase 8
• Gene Aliases: GALNAC-T8
• Location: Chr.12:4720586-4772726 on Build GRCh38
• Assay Gene Location: Overlaps Intron 3 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GALNT8	NM_017417.1			NP_059113.1
	AJ271385.1			CAB89199.1
	BC140888.1
	BC140889.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2668070	Chr.12:4744472 - 4744801 on Build GRCh38	Deletion	GALNT8
nsv483060	Chr.12:3190835 - 5290834 on Build GRCh38	Loss	NDUFA9 DYRK4 CCND2-AS1 FGF6 THCAT155 AKAP3 PARP11 RAD51AP1 TSPAN9 KCNA1 LOC101929584 C12orf4 LOC101929549 KCNA5 CCND2 CRACR2A PRMT8 LOC105369606 GALNT8 TIGAR FGF23 KCNA6 LOC100128253
esv3628367	Chr.12:4743788 - 4756922 on Build GRCh38	Loss	GALNT8
nsv1054218	Chr.12:4710410 - 4773501 on Build GRCh38	Loss	LOC101929549 GALNT8
nsv832318	Chr.12:4546633 - 4766671 on Build GRCh38	Gain	NDUFA9 DYRK4 LOC101929549 AKAP3 GALNT8 RAD51AP1
nsv1040098	Chr.12:3987637 - 5646161 on Build GRCh38	Gain	NDUFA9 DYRK4 CCND2-AS1 FGF6 NTF3 AKAP3 RAD51AP1 KCNA1 LOC101929584 C12orf4 LOC101929549 KCNA5 CCND2 GALNT8 TIGAR FGF23 KCNA6 ANO2

More Information

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

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

O-glycan processing

Function(s)

polypeptide N-acetylgalactosaminyltransferase activity
carbohydrate binding
metal ion binding