Hs03686442_cn

• Gene Symbol: SMPD5
• Assay Reference Genome Location: Chr.8:144051016 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 392275
• Gene Name: sphingomyelin phosphodiesterase 5
• Gene Aliases: MA-nSMase
• Location: Chr.8:144048677-144051220 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMPD5	XM_017014128.1	7	1592	XP_016869617.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv824801	Chr.8:144046683 - 144059698 on Build GRCh38	Gain	MIR6846 SMPD5 SPATC1 OPLAH
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	LOC101928902 MIR6846 FOXH1 VPS28 TMEM249 FBXL6 MIR6848 LRRC14 GRINA MIR661 CPSF1 MFSD3 SHARPIN ADCK5 MIR1234 SMPD5 KIFC2 LOC101928953 CYC1 RECQL4 MAF1 OPLAH TONSL-AS1 SCRT1 PPP1R16A GPAA1 HGH1 EXOSC4 MIR6849 SLC52A2 WDR97 DGAT1 MIR939 MIR6847 BOP1 MIR6893 GPT PLEC MROH1 TONSL MIR7112 SPATC1 SCX HSF1 SLC39A4 PARP10 CYHR1
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	MIR6846 EXOSC4 WDR97 GRINA MIR6847 SHARPIN PLEC SMPD5 CYC1 SPATC1 MAF1 OPLAH PARP10 GPAA1
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	MIR6846 EXOSC4 WDR97 GRINA MIR661 MIR6847 EPPK1 SHARPIN PLEC SMPD5 CYC1 SPATC1 MAF1 OPLAH PARP10 GPAA1
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	MIR6846 EXOSC4 LOC642574 GRINA MIR661 MIR6847 EPPK1 SCRIB PLEC SMPD5 MIR937 NRBP2 SPATC1 PUF60 OPLAH PARP10 MIR6845
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	HGH1 MIR6846 EXOSC4 WDR97 MIR6847 BOP1 SHARPIN SMPD5 MROH1 MIR7112 CYC1 SPATC1 SCX HSF1 MAF1 OPLAH GPAA1
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	HGH1 MIR6846 EXOSC4 WDR97 MIR6847 SHARPIN SMPD5 MROH1 CYC1 SPATC1 MAF1 OPLAH GPAA1
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	LOC101928902 MIR6846 FOXH1 VPS28 TMEM249 FBXL6 MIR6848 LRRC14 GRINA MIR661 CPSF1 MFSD3 SHARPIN ADCK5 MIR1234 SMPD5 KIFC2 LOC101928953 CYC1 RECQL4 MAF1 OPLAH TONSL-AS1 SCRT1 PPP1R16A GPAA1 HGH1 EXOSC4 MIR6849 SLC52A2 WDR97 DGAT1 MIR939 MIR6847 BOP1 MIR6893 GPT PLEC MROH1 TONSL MIR7112 SPATC1 SCX HSF1 SLC39A4 PARP10 CYHR1
nsv612917	Chr.8:144045204 - 144063598 on Build GRCh38	Loss	MIR6846 SMPD5 SPATC1 OPLAH
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	HGH1 MIR6846 EXOSC4 WDR97 GRINA MIR661 MIR6847 EPPK1 SHARPIN PLEC SMPD5 MROH1 CYC1 SPATC1 MAF1 OPLAH PARP10 GPAA1
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	MIR6846 EXOSC4 WDR97 GRINA MIR661 MIR6847 SHARPIN PLEC SMPD5 CYC1 SPATC1 MAF1 OPLAH PARP10 GPAA1
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	MIR6846 PLEC EXOSC4 SMPD5 CYC1 SPATC1 OPLAH PARP10 GRINA GPAA1 MIR661 MIR6847
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	LOC101928902 MIR6846 FOXH1 VPS28 TMEM249 FBXL6 LRRC24 MIR6848 LRRC14 CPSF1 MFSD3 SHARPIN ADCK5 MIR1234 SMPD5 KIFC2 LOC101928953 CYC1 ARHGAP39 C8orf82 ZNF251 RECQL4 MAF1 OPLAH TONSL-AS1 SCRT1 PPP1R16A GPAA1 HGH1 EXOSC4 MIR6849 SLC52A2 WDR97 DGAT1 MIR939 MIR6847 BOP1 MIR6893 GPT MROH1 TONSL MIR7112 SPATC1 SCX HSF1 SLC39A4 CYHR1
nsv612907	Chr.8:143917935 - 144097007 on Build GRCh38	Gain+Loss	MIR6846 PLEC EXOSC4 SMPD5 CYC1 SPATC1 OPLAH PARP10 GRINA GPAA1 MIR661 MIR6847

More Information

• Set Membership: Intragenic, Exonic, DGV Variation