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	SPSB3 EME2 IGFALS NUBP2 FAHD1 HAGH NME3 MAPK8IP3 MIR3177 MRPS34 MEIOB
dgv4857n54	Chr.16:1806439 - 1855005 on Build GRCh38	Loss	FAHD1 HAGH MEIOB
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	RPUSD1 HBA1 ABCA3 ATP6V0C WDR24 TSR3 MIR662 LOC105371184 DNASE1L2 HBZ FBXL16 NTHL1 LOC100287175 MIR5587 TSC2 MPG LUC7L MIR3177 NME4 MIR4516 C16orf59 UBE2I DECR2 SNORA78 CRAMP1 LOC101929280 NARFL UNKL C1QTNF8 TELO2 FAM234A LOC107984876 METTL26 GFER SNHG19 METRN FAHD1 TRAF7 CHTF18 SNORD60 MRPS34 ERVK13-1 C16orf91 NDUFB10 MIR1225 MAPK8IP3 MIR6511B1 RGS11 LMF1 SSTR5 MSRB1 RPS2 PDPK1 CACNA1H ABCA17P ECI1 MRPL28 SNORA64 PRSS27 WFIKKN1 LOC652276 MIR3180-5 PRSS29P MIR3677 MLST8 E4F1 TPSAB1 NOXO1 BAIAP3 RNPS1 ZNF598 SNHG9 PDIA2 CLCN7 LOC105371045 RAB40C NPW BRICD5 HAGHL LOC729652 NUBP2 LINC00235 HBA2 HN1L NHLRC4 HBM AMDHD2 CEMP1 NME3 NTN3 TBC1D24 WASIR2 CCNF TMEM204 PKD1 LMF1-AS1 CAPN15 FAM173A DDX11L10 PRR35 PTX4 MEIOB SNORA10 RPL23AP5 HBQ1 MSLN TMEM8A CCDC154 SPSB3 MIR3176 ARHGDIG IFT140 SSTR5-AS1 RPL3L CCDC78 TPSD1 PIGQ RNF151 WDR90 TPSB2 MIR4717 RHOT2 SYNGR3 NPRL3 SOX8 CASKIN1 MIR3178 PGP MIR940 TBL3 GNG13 KCTD5 MCRIP2 POLR3K STUB1 MIR6768 RAB11FIP3 LOC105371049 TPSG1 AXIN1 RAB26 MIR6859-4 LOC105371047 LOC107987233 FLJ42627 GNPTG SLC9A3R2 IGFALS LINC00254 LOC106660606 HAGH JMJD8 HS3ST6 PRR25 RHBDL1 RHBDF1 EME2 MIR6767 SNRNP25 LOC105371046 LOC105371038 LOC100134368
nsv1040440	Chr.16:1811739 - 1866102 on Build GRCh38	Gain	FAHD1 HAGH MEIOB
nsv1051692	Chr.16:1505070 - 1866102 on Build GRCh38	Loss	CRAMP1 SPSB3 IGFALS HAGH NME3 IFT140 TELO2 MAPK8IP3 TMEM204 EME2 NUBP2 FAHD1 MIR3177 HN1L LOC105371047 MRPS34 LOC105371046 MEIOB
nsv571172	Chr.16:1764390 - 1817039 on Build GRCh38	Loss	SPSB3 EME2 IGFALS NUBP2 HAGH NME3 MAPK8IP3 MRPS34
nsv518641	Chr.16:1645775 - 1835631 on Build GRCh38	Loss	CRAMP1 SPSB3 IGFALS HAGH NME3 MAPK8IP3 EME2 NUBP2 FAHD1 MIR3177 HN1L MRPS34 MEIOB
nsv1042986	Chr.16:1784723 - 1866102 on Build GRCh38	Loss	IGFALS NUBP2 FAHD1 HAGH MEIOB
nsv952900	Chr.16:1724500 - 1827999 on Build GRCh38	Deletion	SPSB3 EME2 IGFALS NUBP2 FAHD1 HAGH NME3 MAPK8IP3 MIR3177 MRPS34
nsv457337	Chr.16:1813519 - 1855005 on Build GRCh38	Loss	FAHD1 HAGH MEIOB

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