Hs01500689_cn

• Gene Symbol: PIGB
• Assay Reference Genome Location: Chr.15:55318956 on build GRCh38
• Cytoband: 15q21.3

Target Gene Details

• Entrez Gene ID: 9488
• Gene Name: phosphatidylinositol glycan anchor biosynthesis class B
• Gene Aliases: GPI-MT-III, PIG-B
• Location: Chr.15:55318935-55355648 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIGB	NM_004855.4			NP_004846.4
	XM_011522235.2			XP_011520537.1
	XM_011522236.2			XP_011520538.1
	AK293666.1
	AK314706.1
	DA598474.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2761899	Chr.15:53592144 - 55643724 on Build GRCh38	Gain+Loss	C15orf65 LOC105370829 RAB27A PIGBOS1 LOC107984745 PRTG RSL24D1 MIR628 CCPG1 WDR72 PYGO1 DYX1C1-CCPG1 DYX1C1 UNC13C PIGB
nsv569523	Chr.15:55263404 - 55544506 on Build GRCh38	Gain	C15orf65 MIR628 CCPG1 RAB27A PIGBOS1 PYGO1 LOC107984745 DYX1C1-CCPG1 DYX1C1 PIGB
nsv1043789	Chr.15:55108674 - 55800256 on Build GRCh38	Gain	C15orf65 MIR628 CCPG1 RAB27A PIGBOS1 PYGO1 LOC107984745 DYX1C1-CCPG1 DYX1C1 PRTG RSL24D1 PIGB
esv3569598	Chr.15:55270429 - 55410270 on Build GRCh38	Gain	C15orf65 MIR628 CCPG1 RAB27A PIGBOS1 DYX1C1-CCPG1 PIGB
nsv569522	Chr.15:55240013 - 55318928 on Build GRCh38	Loss	RAB27A PIGBOS1
nsv569524	Chr.15:55266426 - 55320313 on Build GRCh38	Loss	RAB27A PIGBOS1 PIGB
nsv1036924	Chr.15:55235676 - 55324282 on Build GRCh38	Loss	RAB27A PIGBOS1 PIGB

More Information

Additional Information:

For this assay, SNP(s) [rs114610580] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

glycosyltransferase, transferase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

GPI anchor biosynthetic process
preassembly of GPI anchor in ER membrane
mannosylation

Function(s)

mannosyltransferase activity
glycolipid mannosyltransferase activity