Hs03952908_cn

• Gene Symbol: PIGQ
• Assay Reference Genome Location: Chr.16:572887 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	LOC107987233 NHLRC4 RAB11FIP3 MIR3176 LINC00235 LOC101929280 CAPN15 RAB40C PIGQ PRR35 MIR5587
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	GNPTG IFT140 MIR940 MCRIP2 AXIN1 TSC2 MIR4516 LOC729652 RAB26 PTX4 MIR1225 METTL26 LOC105371038 TBC1D24 MIR3178 LOC652276 TBL3 NHLRC4 MIR6859-4 NUBP2 CEMP1 TMEM8A LOC100134368 LOC100287175 JMJD8 RHOT2 PDPK1 TMEM204 MSLN MIR3177 UBE2I GFER MLST8 HBA1 WASIR2 LMF1 RPL3L WDR90 NTHL1 NARFL LUC7L PIGQ MAPK8IP3 TRAF7 PDIA2 ABCA17P HBQ1 MIR3176 LOC105371045 PRSS29P NOXO1 EME2 METRN E4F1 SSTR5 MIR4717 NME3 C16orf59 STUB1 BAIAP3 BRICD5 PRSS27 GNG13 ATP6V0C WFIKKN1 SNHG9 UNKL CRAMP1 SPSB3 SOX8 CHTF18 MIR6767 LOC101929280 MRPS34 LMF1-AS1 CCNF HS3ST6 FBXL16 RNF151 RHBDL1 POLR3K MIR5587 ZNF598 C1QTNF8 LOC107984876 MIR662 DECR2 HN1L MSRB1 MIR6511B1 CACNA1H TSR3 NTN3 NME4 LOC105371046 MRPL28 PKD1 PRR25 PGP FAM173A MIR3677 MIR3180-5 SNORA78 TPSAB1 RPUSD1 MPG CAPN15 MEIOB WDR24 SNORD60 ARHGDIG PRR35 LINC00254 HBM TPSD1 TELO2 LOC107987233 FAM234A HBA2 LINC00235 ERVK13-1 ABCA3 LOC105371184 CCDC154 CLCN7 LOC105371049 RNPS1 DDX11L10 HBZ RAB40C C16orf91 NPW LOC106660606 SLC9A3R2 SNORA64 SYNGR3 FLJ42627 CCDC78 SNORA10 SNRNP25 FAHD1 RHBDF1 RGS11 NDUFB10 RPS2 DNASE1L2 LOC105371047 NPRL3 KCTD5 AMDHD2 ECI1 HAGHL RPL23AP5 SNHG19 SSTR5-AS1 TPSB2 CASKIN1 MIR6768 HAGH RAB11FIP3 TPSG1 IGFALS
nsv471063	Chr.16:520623 - 852322 on Build GRCh38	Loss	MIR662 MCRIP2 MIR3176 METRN METTL26 LOC105371038 PRR25 CCDC78 FAM173A NHLRC4 RPUSD1 STUB1 CAPN15 WDR24 PRR35 GNG13 LOC100287175 LOC107987233 JMJD8 RHOT2 HAGHL LINC00235 LOC105371184 MSLN WFIKKN1 CHTF18 RAB11FIP3 LOC101929280 WDR90 FBXL16 NARFL RHBDL1 RAB40C PIGQ MIR5587
nsv526903	Chr.16:451362 - 810673 on Build GRCh38	Loss	MIR662 MCRIP2 MIR3176 METRN METTL26 LOC105371038 PRR25 CCDC78 FAM173A NHLRC4 RPUSD1 STUB1 CAPN15 WDR24 PRR35 GNG13 LOC100287175 LOC107987233 JMJD8 RHOT2 HAGHL LINC00235 LOC105371184 MSLN WFIKKN1 CHTF18 RAB11FIP3 LOC101929280 WDR90 FBXL16 NARFL RHBDL1 RAB40C PIGQ MIR5587
nsv952898	Chr.16:495001 - 1132900 on Build GRCh38	Deletion	LOC107984876 MIR662 MCRIP2 MIR3176 METRN METTL26 SSTR5 LOC105371038 PRR25 CCDC78 FAM173A NHLRC4 RPUSD1 STUB1 CAPN15 WDR24 PRR35 GNG13 LOC100287175 LOC107987233 JMJD8 RHOT2 HAGHL LINC00235 LOC105371184 MSLN WFIKKN1 SSTR5-AS1 SOX8 CHTF18 RAB11FIP3 LOC101929280 LMF1-AS1 LMF1 WDR90 FBXL16 NARFL RHBDL1 RAB40C PIGQ MIR5587 C1QTNF8
dgv4823n54	Chr.16:562698 - 662867 on Build GRCh38	Loss	LOC100287175 LOC107987233 MCRIP2 NHLRC4 LOC101929280 WDR90 WFIKKN1 RAB40C PIGQ METTL26 PRR35 LOC105371038
nsv457304	Chr.16:554554 - 611142 on Build GRCh38	Gain	LOC107987233 NHLRC4 LOC101929280 CAPN15 RAB40C PIGQ PRR35
nsv1160325	Chr.16:506925 - 836376 on Build GRCh38	Duplication	MIR662 MCRIP2 MIR3176 METRN METTL26 LOC105371038 PRR25 CCDC78 FAM173A NHLRC4 RPUSD1 STUB1 CAPN15 WDR24 PRR35 GNG13 LOC100287175 LOC107987233 JMJD8 RHOT2 HAGHL LINC00235 LOC105371184 MSLN WFIKKN1 CHTF18 RAB11FIP3 LOC101929280 WDR90 FBXL16 NARFL RHBDL1 RAB40C PIGQ MIR5587

More Information

• 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