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

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