Hs00978096_cn

• Gene Symbol: POMGNT1
• Assay Reference Genome Location: Chr.1:46188743 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	23	2874	NP_001230695.1
	NM_001290129.1	22	2321	NP_001277058.1
	NM_001290130.1	22	2287	NP_001277059.1
	NM_017739.3	22	2674	NP_060209.3
	XM_005271010.1	22	2292	XP_005271067.1
	XM_006710755.1	22	2257	XP_006710818.1
	XM_006710756.1	23	2382	XP_006710819.1
	XM_011541760.2	21	2526	XP_011540062.1
	XM_017001690.1	22	2634	XP_016857179.1
	AA918249.1	1	74
	AF250859.2	19	2263	AAF71270.2
	AK000284.1	22	2651	BAA91053.1
	AK022727.1			BAB14207.1
	AK056186.1	23	2874
	AK302379.1
	AK316399.1
	AY358592.1	22	2639	AAQ88955.1
	BC001471.2			AAH01471.1
	BM999774.1	1	80
	BQ448444.1	1	80
	CR749700.1	19	3419	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	LURAP1 NSUN4 FAAH RAD54L KNCN MKNK1 TSPAN1 LOC101929626 UQCRH LRRC41 PIK3R3 FAAHP1 DMBX1 LINC01398 POMGNT1 MAST2 MKNK1-AS1
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