Hs01814765_cn

• Gene Symbol: AMDHD2
• Assay Reference Genome Location: Chr.16:2530185 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 51005
• Gene Name: amidohydrolase domain containing 2
• Gene Aliases: CGI-14
• Location: Chr.16:2520351-2531414 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMDHD2	NM_001145815.1			NP_001139287.1
	XM_017023262.1	11	1960	XP_016878751.1
	XM_017023263.1	9	1948	XP_016878752.1
	XM_017023264.1	10	1891	XP_016878753.1
	XM_017023265.1	10	1858	XP_016878754.1
	XM_017023266.1	10	1906	XP_016878755.1
	XM_017023267.1	9	1902	XP_016878756.1
	AK296877.1
	AK300747.1

Target Gene Details

• Entrez Gene ID: 752014
• Gene Name: cementum protein 1
• Gene Aliases: CP-23, CP23
• Location: Chr.16:2530035-2531408 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CEMP1	NM_001048212.3	1	1224	NP_001041677.1
	AY584596.1	1	1224	AAT01221.1
	BC146925.1
	BC146926.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	POLR3K RAB11FIP3 HBA2 LOC105371045 SLC9A3R2 CAPN15 LOC106660606 MIR662 PRSS27 HN1L RHBDF1 TMEM8A MLST8 MIR4717 C16orf59 DECR2 PRSS29P MIR6768 TPSD1 RPUSD1 PDPK1 MIR5587 MPG NOXO1 SNORD60 RAB26 C16orf91 CCDC154 MIR3177 HBA1 NPW ERVK13-1 MIR6767 NDUFB10 NTN3 SOX8 LOC101929280 SNRNP25 TBL3 SNHG9 ABCA3 METRN SYNGR3 DDX11L10 MIR3178 TMEM204 LOC729652 SNORA10 MRPS34 MIR3180-5 WDR90 FBXL16 KCTD5 LOC105371046 DNASE1L2 CLCN7 E4F1 EME2 GFER NHLRC4 WDR24 NARFL LOC107984876 LOC100134368 LOC105371184 MIR4516 CACNA1H RPS2 MIR3176 GNG13 FAHD1 TELO2 CEMP1 CRAMP1 WFIKKN1 RNF151 CCDC78 PRR25 TBC1D24 SNORA64 RHBDL1 HBQ1 HAGH MIR1225 JMJD8 PIGQ TPSG1 FAM173A IGFALS HBZ MIR6511B1 MCRIP2 GNPTG HS3ST6 AMDHD2 SNHG19 RPL23AP5 SPSB3 FLJ42627 RAB40C STUB1 LOC107987233 MIR6859-4 TPSB2 CCNF UBE2I LOC105371049 ATP6V0C ARHGDIG NUBP2 TSR3 LMF1-AS1 RHOT2 C1QTNF8 ABCA17P MSRB1 SSTR5-AS1 NME4 LOC105371047 METTL26 PTX4 BRICD5 MRPL28 PKD1 MSLN ZNF598 LMF1 HAGHL PGP FAM234A PDIA2 NME3 WASIR2 UNKL LOC652276 TPSAB1 LINC00235 MAPK8IP3 RNPS1 TRAF7 NPRL3 RPL3L CHTF18 LUC7L AXIN1 RGS11 SNORA78 IFT140 ECI1 LOC100287175 BAIAP3 NTHL1 LOC105371038 CASKIN1 PRR35 HBM TSC2 MEIOB MIR940 MIR3677 SSTR5 LINC00254
esv2760067	Chr.16:2486824 - 2820535 on Build GRCh38	Gain+Loss	AMDHD2 CEMP1 FLJ42627 PRSS27 SRRM2-AS1 PRSS33 TBC1D24 TCEB2 MIR3178 ERVK13-1 ATP6V0C PRSS21 SRRM2 LOC652276 KCTD5 PRSS41 PDPK1
nsv833122	Chr.16:2501717 - 2663937 on Build GRCh38	Loss	MIR3178 AMDHD2 ERVK13-1 ATP6V0C CEMP1 FLJ42627 TBC1D24 LOC652276 PDPK1
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	CEMP1 LOC106660606 ABCA3 TBC1D24 BRICD5 MLST8 MIR4717 PKD1 MIR3178 MIR1225 C16orf59 LOC729652 PGP MIR3180-5 MIR6511B1 MIR6768 LOC652276 PDPK1 RNPS1 DNASE1L2 TRAF7 AMDHD2 SNORD60 E4F1 RAB26 SNHG19 CCNF ECI1 LOC105371049 CASKIN1 ATP6V0C MIR4516 MIR6767 TSC2 NTN3 MIR940 ABCA17P MIR3677

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

deacetylase, hydrolase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
N-acetylglucosamine catabolic process
UDP-N-acetylglucosamine biosynthetic process
N-acetylneuraminate catabolic process

Function(s)

protein binding
N-acetylglucosamine-6-phosphate deacetylase activity
metal ion binding