Hs02318446_cn

• Gene Symbol: EME2
• Assay Reference Genome Location: Chr.16:1776713 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 197342
• Gene Name: essential meiotic structure-specific endonuclease subunit 2
• Gene Aliases: SLX2B, gs125
• Location: Chr.16:1773222-1776714 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EME2	XM_017023025.1			XP_016878514.1
	XM_017023026.1			XP_016878515.1
	AK074080.2	7	1699	BAB84906.2

Target Gene Details

• Entrez Gene ID: 90864
• Gene Name: splA/ryanodine receptor domain and SOCS box containing 3
• Gene Aliases: C16orf31, SSB3
• Location: Chr.16:1776712-1782605 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPSB3	NM_001324081.1			NP_001311010.1
	NM_080861.3			NP_543137.2
	XM_005255673.4			XP_005255730.1
	AK074190.1
	BC007588.1
	BC024244.1			AAH24244.1
	BC041897.1			AAH41897.1
	BC047441.1
	BQ930544.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv571169	Chr.16:1729694 - 1789022 on Build GRCh38	Loss	MIR3177 MRPS34 EME2 NUBP2 SPSB3 NME3 MAPK8IP3
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	ZNF598 ATP6V0C TPSG1 ABCA17P HBM MIR940 EME2 SSTR5-AS1 TPSD1 HBQ1 LOC105371038 MIR6767 CEMP1 NTHL1 LOC105371046 PRSS27 TELO2 TPSB2 NARFL NOXO1 RAB40C LOC107984876 FLJ42627 GNG13 HBA2 SNORA64 MRPS34 JMJD8 PGP MIR3677 HS3ST6 MSRB1 SNORD60 SLC9A3R2 PDPK1 CASKIN1 SNHG9 SNHG19 HN1L RHBDL1 TRAF7 FAM173A RHBDF1 MIR4516 LOC105371045 LUC7L TBL3 LOC105371184 LMF1-AS1 MPG E4F1 CRAMP1 SYNGR3 MIR6768 CCDC154 IGFALS PRR35 BRICD5 SSTR5 SNORA10 LOC105371047 MIR6511B1 BAIAP3 DECR2 LINC00254 RAB11FIP3 IFT140 LOC729652 SNORA78 PKD1 FAHD1 TSC2 RPL23AP5 ECI1 FBXL16 MIR3176 MIR1225 CAPN15 UNKL C16orf91 ARHGDIG LOC652276 TPSAB1 TMEM204 MRPL28 RPS2 MIR662 WFIKKN1 NUBP2 C1QTNF8 LOC107987233 LOC105371049 C16orf59 METTL26 TBC1D24 NTN3 NPRL3 GFER STUB1 TMEM8A NME3 DDX11L10 PRR25 AMDHD2 KCTD5 DNASE1L2 WDR24 LOC100287175 SNRNP25 MLST8 RNPS1 NME4 NDUFB10 CCNF ERVK13-1 PDIA2 UBE2I LMF1 ABCA3 MIR6859-4 NHLRC4 PIGQ MSLN GNPTG SOX8 SPSB3 MCRIP2 POLR3K NPW RAB26 RGS11 LOC100134368 RHOT2 LOC106660606 PRSS29P METRN HAGHL WDR90 PTX4 RPUSD1 CACNA1H HBA1 FAM234A HAGH MIR5587 MIR4717 MEIOB WASIR2 TSR3 CHTF18 MIR3177 CCDC78 MIR3178 HBZ AXIN1 MAPK8IP3 CLCN7 LOC101929280 MIR3180-5 RNF151 LINC00235 RPL3L
nsv571172	Chr.16:1764390 - 1817039 on Build GRCh38	Loss	MRPS34 EME2 NUBP2 HAGH SPSB3 IGFALS NME3 MAPK8IP3
nsv1160328	Chr.16:1704619 - 1797867 on Build GRCh38	Deletion	MIR3177 MRPS34 EME2 NUBP2 SPSB3 IGFALS NME3 MAPK8IP3
nsv571171	Chr.16:1757779 - 1804539 on Build GRCh38	Gain+Loss	MRPS34 EME2 NUBP2 SPSB3 IGFALS NME3 MAPK8IP3
dgv4856n54	Chr.16:1600945 - 1813519 on Build GRCh38	Loss	CRAMP1 MIR3177 MRPS34 EME2 IGFALS NME3 MAPK8IP3 LOC105371046 HN1L NUBP2 HAGH SPSB3 IFT140
nsv471069	Chr.16:1754356 - 1791032 on Build GRCh38	Loss	MRPS34 EME2 NUBP2 SPSB3 IGFALS NME3 MAPK8IP3
nsv1051692	Chr.16:1505070 - 1866102 on Build GRCh38	Loss	CRAMP1 MIR3177 MRPS34 EME2 IGFALS NME3 MAPK8IP3 LOC105371047 LOC105371046 TELO2 HN1L TMEM204 NUBP2 HAGH MEIOB SPSB3 IFT140 FAHD1
nsv827500	Chr.16:1761258 - 1795126 on Build GRCh38	Gain	MRPS34 EME2 NUBP2 SPSB3 IGFALS NME3 MAPK8IP3
nsv571173	Chr.16:1767596 - 1780436 on Build GRCh38	Loss	MRPS34 EME2 SPSB3 NME3 MAPK8IP3
nsv518641	Chr.16:1645775 - 1835631 on Build GRCh38	Loss	CRAMP1 MIR3177 MRPS34 EME2 IGFALS NME3 MAPK8IP3 HN1L NUBP2 HAGH MEIOB SPSB3 FAHD1
nsv457336	Chr.16:1752231 - 1791032 on Build GRCh38	Loss	MRPS34 EME2 NUBP2 SPSB3 IGFALS NME3 MAPK8IP3
nsv952900	Chr.16:1724500 - 1827999 on Build GRCh38	Deletion	MIR3177 MRPS34 EME2 NUBP2 HAGH SPSB3 IGFALS NME3 MAPK8IP3 FAHD1

More Information

Additional Information:

For this assay, SNP(s) [rs118003261] 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, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

DNA repair
DNA recombination
nucleic acid phosphodiester bond hydrolysis
protein ubiquitination
intracellular signal transduction

Function(s)

DNA binding
endonuclease activity
protein binding