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
nsv457335	Chr.16:1729694 - 1789022 on Build GRCh38	Loss	EME2 NME3 MIR3177 NUBP2 SPSB3 MRPS34 MAPK8IP3
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	RHOT2 MIR3178 LUC7L SNORA78 MIR3677 PRSS29P NHLRC4 MEIOB AXIN1 SNORD60 MIR4516 LOC105371046 TRAF7 SNHG9 METTL26 MPG MIR6511B1 MAPK8IP3 MIR1225 TPSG1 MSRB1 FLJ42627 C16orf59 SSTR5 MIR940 MIR6859-4 SPSB3 LOC107984876 TELO2 HN1L NME3 LOC652276 SOX8 MIR3176 PGP HBM WFIKKN1 HBZ UNKL GNG13 LMF1 TPSB2 WDR90 RPL3L IFT140 CCNF PIGQ CEMP1 RNPS1 TSR3 NUBP2 BAIAP3 CASKIN1 PRR35 RGS11 CCDC78 TMEM204 FAHD1 CAPN15 SSTR5-AS1 RNF151 ERVK13-1 TBL3 TMEM8A MIR5587 MIR6768 WDR24 AMDHD2 CLCN7 LOC105371045 CHTF18 LOC729652 NTN3 TPSD1 HS3ST6 FAM173A RHBDF1 DECR2 RPUSD1 MCRIP2 LOC101929280 NPW PTX4 HBA2 SNRNP25 LOC105371049 LOC105371184 ABCA3 PKD1 SNHG19 DDX11L10 SNORA64 SYNGR3 PRR25 LOC107987233 ZNF598 KCTD5 LMF1-AS1 MIR6767 SLC9A3R2 WASIR2 IGFALS NME4 TBC1D24 CCDC154 MIR662 NPRL3 MLST8 CACNA1H PRSS27 LINC00254 PDPK1 DNASE1L2 STUB1 LINC00235 NOXO1 HAGHL ABCA17P LOC105371047 GNPTG FBXL16 METRN HAGH BRICD5 MIR3177 ARHGDIG TSC2 MIR3180-5 ATP6V0C MSLN FAM234A NARFL PDIA2 NDUFB10 C16orf91 C1QTNF8 RHBDL1 MRPS34 LOC105371038 RAB11FIP3 RAB26 MIR4717 HBQ1 NTHL1 UBE2I RPL23AP5 JMJD8 EME2 POLR3K GFER RAB40C ECI1 TPSAB1 LOC100287175 E4F1 CRAMP1 HBA1 LOC100134368 RPS2 SNORA10 LOC106660606 MRPL28
esv3892756	Chr.16:1764390 - 1780436 on Build GRCh38	Loss	EME2 NME3 SPSB3 MRPS34 MAPK8IP3
nsv1160328	Chr.16:1704619 - 1797867 on Build GRCh38	Deletion	EME2 NME3 MIR3177 NUBP2 SPSB3 MRPS34 IGFALS MAPK8IP3
nsv571171	Chr.16:1757779 - 1804539 on Build GRCh38	Gain+Loss	EME2 NME3 NUBP2 SPSB3 MRPS34 IGFALS MAPK8IP3
dgv4856n54	Chr.16:1600945 - 1813519 on Build GRCh38	Loss	EME2 HAGH MIR3177 IFT140 SPSB3 IGFALS LOC105371046 CRAMP1 HN1L NME3 NUBP2 MRPS34 MAPK8IP3
nsv471069	Chr.16:1754356 - 1791032 on Build GRCh38	Loss	EME2 NME3 NUBP2 SPSB3 MRPS34 IGFALS MAPK8IP3
nsv1051692	Chr.16:1505070 - 1866102 on Build GRCh38	Loss	EME2 HAGH MIR3177 TMEM204 FAHD1 IFT140 SPSB3 IGFALS MEIOB LOC105371046 CRAMP1 TELO2 HN1L NME3 NUBP2 MRPS34 MAPK8IP3 LOC105371047
nsv827500	Chr.16:1761258 - 1795126 on Build GRCh38	Gain	EME2 NME3 NUBP2 SPSB3 MRPS34 IGFALS MAPK8IP3
nsv518641	Chr.16:1645775 - 1835631 on Build GRCh38	Loss	EME2 HAGH MIR3177 FAHD1 SPSB3 IGFALS MEIOB CRAMP1 HN1L NME3 NUBP2 MRPS34 MAPK8IP3
nsv571173	Chr.16:1767596 - 1780436 on Build GRCh38	Loss	EME2 NME3 SPSB3 MRPS34 MAPK8IP3
nsv952900	Chr.16:1724500 - 1827999 on Build GRCh38	Deletion	EME2 HAGH NME3 MIR3177 FAHD1 NUBP2 SPSB3 MRPS34 IGFALS MAPK8IP3
nsv571170	Chr.16:1752231 - 1791032 on Build GRCh38	Loss	EME2 NME3 NUBP2 SPSB3 MRPS34 IGFALS MAPK8IP3

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