Hs03931073_cn

• Gene Symbol: HAGH
• Assay Reference Genome Location: Chr.16:1816589 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 3029
• Gene Name: hydroxyacylglutathione hydrolase
• Gene Aliases: GLO2, GLX2, GLXII, HAGH1
• Location: Chr.16:1809099-1827194 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HAGH	NM_001040427.1			NP_001035517.1
	NM_001286249.1			NP_001273178.1
	NM_005326.4			NP_005317.2
	XM_011522469.2			XP_011520771.1
	XM_011522470.2			XP_011520772.1
	XM_017023195.1			XP_016878684.1
	AK290155.1
	AK298174.1
	AK299173.1
	AK299993.1
	BC000840.1			AAH00840.1
	BC002627.2
	X90999.1			CAA62483.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv517196	Chr.16:1729694 - 1844960 on Build GRCh38	Gain+Loss	NUBP2 HAGH MRPS34 MIR3177 SPSB3 EME2 NME3 MAPK8IP3 FAHD1 MEIOB IGFALS
nsv571175	Chr.16:1806439 - 1875278 on Build GRCh38	Loss	HAGH FAHD1 MEIOB
nsv1040440	Chr.16:1811739 - 1866102 on Build GRCh38	Gain	HAGH FAHD1 MEIOB
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	TPSB2 RHBDF1 PDPK1 MRPS34 ATP6V0C HN1L LOC107987233 LOC105371184 LOC100287175 RNF151 LOC105371045 PTX4 LOC105371046 HBZ RHBDL1 SNORD60 SNORA64 MAPK8IP3 HBA2 MIR6767 TSR3 MEIOB ECI1 LOC106660606 DNASE1L2 WASIR2 HAGH HBA1 MRPL28 NOXO1 MIR4717 ABCA17P HBM BAIAP3 MIR6511B1 RPL3L RGS11 NME4 FBXL16 ERVK13-1 KCTD5 WFIKKN1 MLST8 GNG13 LOC652276 NHLRC4 ZNF598 PRSS27 MIR3677 IFT140 MIR3177 TMEM204 TMEM8A RNPS1 TPSAB1 MIR5587 CRAMP1 LINC00235 MIR6859-4 MIR1225 SSTR5-AS1 LUC7L DDX11L10 METTL26 RPL23AP5 NME3 SNORA10 PKD1 ARHGDIG CCDC78 CCNF POLR3K NUBP2 RHOT2 LOC100134368 TPSD1 STUB1 MIR3178 HAGHL ABCA3 UNKL LINC00254 LOC101929280 IGFALS FAM173A FAM234A AMDHD2 MSLN HBQ1 C16orf91 SOX8 MSRB1 CLCN7 CEMP1 C1QTNF8 SNHG19 PRR35 LOC105371047 TRAF7 SNRNP25 JMJD8 LOC105371038 CACNA1H SPSB3 MIR6768 TBC1D24 METRN CHTF18 C16orf59 SYNGR3 UBE2I CAPN15 LOC105371049 SLC9A3R2 NPW LMF1 RAB40C BRICD5 MIR3176 PRR25 PIGQ MCRIP2 RAB26 TPSG1 E4F1 AXIN1 MIR4516 WDR90 GNPTG MIR3180-5 FAHD1 PDIA2 PGP WDR24 NTHL1 RAB11FIP3 EME2 LOC729652 LMF1-AS1 TSC2 SNHG9 MIR662 CCDC154 TBL3 DECR2 MPG NPRL3 MIR940 FLJ42627 NTN3 SNORA78 CASKIN1 RPUSD1 NARFL GFER TELO2 NDUFB10 HS3ST6 SSTR5 RPS2 LOC107984876 PRSS29P
nsv571172	Chr.16:1764390 - 1817039 on Build GRCh38	Loss	NUBP2 HAGH MRPS34 SPSB3 EME2 NME3 MAPK8IP3 IGFALS
nsv1051692	Chr.16:1505070 - 1866102 on Build GRCh38	Loss	NUBP2 HAGH MRPS34 MIR3177 HN1L TMEM204 LOC105371046 CRAMP1 FAHD1 IGFALS LOC105371047 SPSB3 EME2 NME3 MAPK8IP3 TELO2 MEIOB IFT140
nsv1042986	Chr.16:1784723 - 1866102 on Build GRCh38	Loss	NUBP2 HAGH FAHD1 MEIOB IGFALS
nsv518641	Chr.16:1645775 - 1835631 on Build GRCh38	Loss	NUBP2 HAGH MRPS34 MIR3177 HN1L CRAMP1 FAHD1 IGFALS SPSB3 EME2 NME3 MAPK8IP3 MEIOB
nsv457337	Chr.16:1813519 - 1855005 on Build GRCh38	Loss	HAGH FAHD1 MEIOB
nsv952900	Chr.16:1724500 - 1827999 on Build GRCh38	Deletion	NUBP2 HAGH MRPS34 MIR3177 SPSB3 EME2 NME3 MAPK8IP3 FAHD1 IGFALS

More Information

Additional Information:

For this assay, SNP(s) [rs113902775] 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

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
pyruvate metabolic process
glutathione biosynthetic process
methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione

Function(s)

hydroxyacylglutathione hydrolase activity
protein binding
metal ion binding