Hs04460540_cn

• Gene Symbol: PIGQ
• Assay Reference Genome Location: Chr.16:572537 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 9091
• Gene Name: phosphatidylinositol glycan anchor biosynthesis class Q
• Gene Aliases: GPI1, c407A10.1
• Location: Chr.16:569968-584136 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIGQ	NM_004204.3			NP_004195.2
	NM_148920.2			NP_683721.1
	AB003723.1			BAA24948.1
	AF030177.1			AAC32661.1
	AK300297.1
	AK314361.1
	BC006377.2			AAH06377.1
	DA206420.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833113	Chr.16:506513 - 628160 on Build GRCh38	Loss	LINC00235 NHLRC4 PIGQ CAPN15 LOC101929280 MIR3176 RAB11FIP3 MIR5587 LOC107987233 PRR35 RAB40C
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	ZNF598 FAM234A E4F1 MIR3677 PDPK1 LOC105371049 PRSS27 RPL3L MIR6767 RHBDF1 FBXL16 TPSG1 MPG MRPL28 HN1L MIR4717 MRPS34 POLR3K MIR662 BRICD5 SOX8 IFT140 RHOT2 CAPN15 LOC101929280 LOC106660606 GNPTG METTL26 SNRNP25 LUC7L LOC105371038 CHTF18 ARHGDIG LOC105371184 LOC107987233 PGP RPS2 CRAMP1 SSTR5-AS1 HAGH SNORD60 FAHD1 LINC00235 PRSS29P NUBP2 TELO2 MIR4516 MEIOB CLCN7 MIR6859-4 FAM173A ECI1 WDR90 LOC652276 SNORA78 LOC105371046 LOC100134368 SNHG9 RAB40C LMF1 ABCA3 PKD1 CASKIN1 PTX4 PIGQ CACNA1H NARFL LMF1-AS1 DECR2 AXIN1 DNASE1L2 WFIKKN1 NPW UBE2I EME2 SLC9A3R2 MIR3178 TRAF7 JMJD8 NHLRC4 HBA2 ABCA17P MCRIP2 WDR24 MIR5587 BAIAP3 KCTD5 CCNF NOXO1 LOC105371047 NME3 RGS11 RPL23AP5 METRN PDIA2 MIR6511B1 UNKL TBC1D24 STUB1 RAB11FIP3 C16orf59 PRR35 HAGHL RAB26 SYNGR3 TMEM8A LOC105371045 TSR3 CCDC78 TMEM204 RPUSD1 TPSD1 FLJ42627 C1QTNF8 MIR1225 HBM TPSB2 HBA1 WASIR2 MIR6768 TBL3 MIR940 NTN3 TPSAB1 SPSB3 GNG13 CCDC154 NTHL1 LOC107984876 MLST8 NDUFB10 SNHG19 MIR3176 SNORA10 NPRL3 MSLN MIR3180-5 SSTR5 MAPK8IP3 LINC00254 ERVK13-1 PRR25 ATP6V0C RNPS1 HBZ CEMP1 GFER MSRB1 HS3ST6 IGFALS NME4 C16orf91 AMDHD2 LOC100287175 SNORA64 RHBDL1 HBQ1 LOC729652 TSC2 MIR3177 DDX11L10 RNF151
nsv471063	Chr.16:520623 - 852322 on Build GRCh38	Loss	LINC00235 GNG13 MIR3176 FBXL16 METRN FAM173A MSLN MIR662 WDR90 RHOT2 PRR25 CAPN15 LOC101929280 STUB1 RAB11FIP3 PRR35 RAB40C HAGHL METTL26 PIGQ LOC100287175 NARFL CCDC78 WFIKKN1 RPUSD1 LOC105371038 CHTF18 LOC105371184 RHBDL1 LOC107987233 JMJD8 NHLRC4 MCRIP2 WDR24 MIR5587
nsv526903	Chr.16:451362 - 810673 on Build GRCh38	Loss	LINC00235 GNG13 MIR3176 FBXL16 METRN FAM173A MSLN MIR662 WDR90 RHOT2 PRR25 CAPN15 LOC101929280 STUB1 RAB11FIP3 PRR35 RAB40C HAGHL METTL26 PIGQ LOC100287175 NARFL CCDC78 WFIKKN1 RPUSD1 LOC105371038 CHTF18 LOC105371184 RHBDL1 LOC107987233 JMJD8 NHLRC4 MCRIP2 WDR24 MIR5587
nsv952898	Chr.16:495001 - 1132900 on Build GRCh38	Deletion	LINC00235 GNG13 LOC107984876 MIR3176 FBXL16 METRN FAM173A MSLN SSTR5 MIR662 WDR90 SOX8 RHOT2 PRR25 CAPN15 LOC101929280 STUB1 RAB11FIP3 PRR35 RAB40C LMF1 HAGHL METTL26 PIGQ LOC100287175 NARFL LMF1-AS1 CCDC78 WFIKKN1 RPUSD1 LOC105371038 C1QTNF8 CHTF18 LOC105371184 RHBDL1 LOC107987233 JMJD8 NHLRC4 SSTR5-AS1 MCRIP2 WDR24 MIR5587
dgv4823n54	Chr.16:562698 - 662867 on Build GRCh38	Loss	WDR90 NHLRC4 METTL26 PIGQ LOC100287175 LOC101929280 WFIKKN1 MCRIP2 LOC105371038 LOC107987233 PRR35 RAB40C
nsv457304	Chr.16:554554 - 611142 on Build GRCh38	Gain	NHLRC4 PIGQ CAPN15 LOC101929280 LOC107987233 PRR35 RAB40C
nsv1160325	Chr.16:506925 - 836376 on Build GRCh38	Duplication	LINC00235 GNG13 MIR3176 FBXL16 METRN FAM173A MSLN MIR662 WDR90 RHOT2 PRR25 CAPN15 LOC101929280 STUB1 RAB11FIP3 PRR35 RAB40C HAGHL METTL26 PIGQ LOC100287175 NARFL CCDC78 WFIKKN1 RPUSD1 LOC105371038 CHTF18 LOC105371184 RHBDL1 LOC107987233 JMJD8 NHLRC4 MCRIP2 WDR24 MIR5587

More Information

Additional Information:

For this assay, SNP(s) [rs144282116] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
preassembly of GPI anchor in ER membrane

Function(s)

phosphatidylinositol N-acetylglucosaminyltransferase activity