Hs00620329_cn

• Gene Symbol: SPSB3
• Assay Reference Genome Location: Chr.16:1778333 on build GRCh38
• Cytoband: 16p13.3

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 Intron 4 - Exon 5

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
	AF403028.1			AAL57347.1
	AK074190.1
	AK302041.1	3	629
	BC007588.1
	BC024244.1			AAH24244.1
	BC041897.1	3	1158	AAH41897.1
	BC047441.1
	BI768095.1
	BM836743.1

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

More Information

Additional Information:

For this assay, SNP(s) [rs74002455] 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)

protein ubiquitination
intracellular signal transduction

Function(s)

protein binding