Hs00454643_cn

• Gene Symbol: POMGNT1
• Assay Reference Genome Location: Chr.1:46189018 on build GRCh38
• Cytoband: 1p34.1

Target Gene Details

• Entrez Gene ID: 55624
• Gene Name: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
• Gene Aliases: GNTI.2, GnT I.2, LGMD2O, MEB, MGAT1.2, gnT-I.2
• Location: Chr.1:46188681-46220305 on Build GRCh38
• Assay Gene Location: Within Exon 24

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POMGNT1	NM_001243766.1			NP_001230695.1
	NM_001290129.1			NP_001277058.1
	NM_001290130.1			NP_001277059.1
	NM_017739.3	22	2399	NP_060209.3
	XM_005271010.1			XP_005271067.1
	XM_006710755.1			XP_006710818.1
	XM_006710756.1			XP_006710819.1
	XM_011541760.2	21	2251	XP_011540062.1
	XM_017001690.1	22	2359	XP_016857179.1
	AB057356.1	22	2329	BAB71960.1
	AF250859.2	19	1988	AAF71270.2
	AK000284.1	22	2376	BAA91053.1
	AK022727.1	17	1745	BAB14207.1
	AK056186.1
	AK225033.1	22	2377
	AK301923.1
	AK302379.1
	AK316399.1
	AY358592.1	22	2364	AAQ88955.1
	BC001471.2	22	2393	AAH01471.1
	BM999774.1	1	355
	BQ448444.1	1	355
	CB146374.1
	CR749700.1	19	3144	CAH18478.2

Target Gene Details

• Entrez Gene ID: 10103
• Gene Name: tetraspanin 1
• Gene Aliases: NET1, TM4C, TM4SF
• Location: Chr.1:46175077-46196489 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TSPAN1	XM_011540460.2			XP_011538762.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv527878	Chr.1:46183374 - 46194623 on Build GRCh38	Gain	POMGNT1 TSPAN1
esv2761743	Chr.1:45874186 - 46561071 on Build GRCh38	Gain	LRRC41 MKNK1-AS1 POMGNT1 FAAH LINC01398 LOC101929626 MKNK1 PIK3R3 RAD54L UQCRH KNCN LURAP1 FAAHP1 TSPAN1 MAST2 NSUN4 DMBX1
nsv822520	Chr.1:46184814 - 46196029 on Build GRCh38	Loss	POMGNT1 TSPAN1

More Information

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

Panther Classification:

Molecular Function -

protein modifying enzyme

Gene Ontology Categories:

Process(es)

protein O-linked glycosylation
cell surface receptor signaling pathway
cell proliferation
cell migration
positive regulation of endocytosis
protein stabilization

Function(s)

protein binding
beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity