Hs03671291_cn

• Gene Symbol: SMPD5
• Assay Reference Genome Location: Chr.8:144050224 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 Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMPD5	XM_017014128.1			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	SMPD5 SPATC1 OPLAH MIR6846
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	SLC39A4 MIR6847 TMEM249 VPS28 WDR97 MIR939 CYC1 SPATC1 MAF1 SHARPIN GRINA KIFC2 SCRT1 PPP1R16A MIR661 HGH1 SMPD5 FBXL6 HSF1 LOC101928953 FOXH1 SCX MIR6846 MIR7112 CYHR1 LRRC14 MROH1 PARP10 LOC101928902 BOP1 MFSD3 DGAT1 EXOSC4 SLC52A2 RECQL4 MIR6849 GPAA1 TONSL ADCK5 MIR6848 MIR6893 OPLAH CPSF1 MIR1234 PLEC GPT TONSL-AS1
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	MIR6847 PARP10 WDR97 CYC1 SPATC1 MAF1 EXOSC4 SHARPIN GRINA GPAA1 SMPD5 OPLAH PLEC MIR6846
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	MIR6847 PARP10 WDR97 CYC1 SPATC1 MAF1 EXOSC4 SHARPIN GRINA GPAA1 MIR661 SMPD5 OPLAH PLEC MIR6846 EPPK1
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	MIR937 MIR6847 PARP10 NRBP2 SPATC1 SCRIB EXOSC4 GRINA MIR6845 PUF60 MIR661 SMPD5 OPLAH LOC642574 PLEC MIR6846 EPPK1
nsv1025071	Chr.8:144044224 - 144300847 on Build GRCh38	Gain	MIR6847 MROH1 BOP1 WDR97 CYC1 SPATC1 MAF1 EXOSC4 SHARPIN GPAA1 HGH1 SMPD5 HSF1 OPLAH SCX MIR6846 MIR7112
nsv466014	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	MIR6847 MROH1 WDR97 CYC1 SPATC1 MAF1 EXOSC4 SHARPIN GPAA1 HGH1 SMPD5 OPLAH MIR6846
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	SLC39A4 MIR6847 TMEM249 VPS28 WDR97 MIR939 CYC1 SPATC1 MAF1 SHARPIN GRINA KIFC2 SCRT1 PPP1R16A MIR661 HGH1 SMPD5 FBXL6 HSF1 LOC101928953 FOXH1 SCX MIR6846 MIR7112 CYHR1 LRRC14 MROH1 PARP10 LOC101928902 BOP1 MFSD3 DGAT1 EXOSC4 SLC52A2 RECQL4 MIR6849 GPAA1 TONSL ADCK5 MIR6848 MIR6893 OPLAH CPSF1 MIR1234 PLEC GPT TONSL-AS1
nsv612917	Chr.8:144045204 - 144063598 on Build GRCh38	Loss	SMPD5 SPATC1 OPLAH MIR6846
dgv906n27	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	MIR6847 MROH1 PARP10 WDR97 CYC1 SPATC1 MAF1 EXOSC4 SHARPIN GRINA GPAA1 MIR661 HGH1 SMPD5 OPLAH PLEC MIR6846 EPPK1
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	MIR6847 PARP10 WDR97 CYC1 SPATC1 MAF1 EXOSC4 SHARPIN GRINA GPAA1 MIR661 SMPD5 OPLAH PLEC MIR6846
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	MIR661 SMPD5 MIR6847 PARP10 CYC1 SPATC1 OPLAH EXOSC4 PLEC MIR6846 GRINA GPAA1
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	SLC39A4 MIR6847 TMEM249 VPS28 WDR97 MIR939 CYC1 SPATC1 MAF1 SHARPIN KIFC2 SCRT1 PPP1R16A HGH1 SMPD5 FBXL6 HSF1 LOC101928953 FOXH1 SCX MIR6846 MIR7112 CYHR1 LRRC14 MROH1 LOC101928902 C8orf82 BOP1 MFSD3 DGAT1 EXOSC4 ZNF251 SLC52A2 RECQL4 MIR6849 GPAA1 LRRC24 TONSL ARHGAP39 ADCK5 MIR6848 MIR6893 OPLAH CPSF1 MIR1234 GPT TONSL-AS1
nsv612907	Chr.8:143917935 - 144097007 on Build GRCh38	Gain+Loss	MIR661 SMPD5 MIR6847 PARP10 CYC1 SPATC1 OPLAH EXOSC4 PLEC MIR6846 GRINA GPAA1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation