Hs01652937_cn

• Gene Symbol: SPATC1
• Assay Reference Genome Location: Chr.8:144046960 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 375686
• Gene Name: spermatogenesis and centriole associated 1
• Gene Aliases: SPATA15
• Location: Chr.8:144010992-144047114 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPATC1	NM_001134374.1	4	1742	NP_001127846.1
	NM_198572.2	5	1882	NP_940974.2
	XM_011517021.1			XP_011515323.1
	XM_011517022.2			XP_011515324.1
	XM_011517023.2			XP_011515325.1
	XM_011517024.2			XP_011515326.1
	XM_011517025.2			XP_011515327.1
	XM_017013399.1			XP_016868888.1
	AB092352.1			BAD08232.1
	AK301710.1
	BC050390.1			AAH50390.1
	BC053547.1	5	1857	AAH53547.1

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 OPLAH SPATC1 MIR6846
nsv470249	Chr.8:143889098 - 144519234 on Build GRCh38	Loss	MIR939 PPP1R16A SMPD5 SLC52A2 DGAT1 MIR6849 GPT TMEM249 MIR1234 SPATC1 MIR6847 SLC39A4 EXOSC4 OPLAH LOC101928953 MAF1 LRRC14 SHARPIN TONSL-AS1 GPAA1 PLEC PARP10 ADCK5 WDR97 HGH1 FBXL6 MIR661 CYHR1 HSF1 MIR7112 CYC1 KIFC2 MIR6893 MROH1 GRINA VPS28 CPSF1 FOXH1 LOC101928902 SCRT1 MFSD3 RECQL4 MIR6848 SCX BOP1 TONSL MIR6846
nsv6446	Chr.8:144012529 - 144050050 on Build GRCh38	Insertion	SMPD5 SPATC1
nsv612914	Chr.8:143972494 - 144120626 on Build GRCh38	Loss	SMPD5 WDR97 CYC1 SPATC1 MIR6847 EXOSC4 GRINA OPLAH MAF1 SHARPIN GPAA1 PLEC MIR6846 PARP10
nsv950015	Chr.8:143866633 - 144125597 on Build GRCh38	Deletion	SMPD5 WDR97 MIR661 CYC1 SPATC1 MIR6847 EXOSC4 GRINA EPPK1 OPLAH MAF1 SHARPIN GPAA1 PLEC MIR6846 PARP10
nsv1161815	Chr.8:143775169 - 144080674 on Build GRCh38	Deletion	MIR6845 MIR937 SMPD5 MIR661 NRBP2 LOC642574 SPATC1 MIR6847 EXOSC4 GRINA SCRIB EPPK1 OPLAH PUF60 PLEC MIR6846 PARP10
nsv612916	Chr.8:144044224 - 144056712 on Build GRCh38	Loss	SMPD5 OPLAH SPATC1
nsv612915	Chr.8:144007080 - 144224185 on Build GRCh38	Loss	SMPD5 WDR97 HGH1 CYC1 MROH1 SPATC1 MIR6847 EXOSC4 OPLAH MAF1 SHARPIN GPAA1 MIR6846
nsv612917	Chr.8:144045204 - 144063598 on Build GRCh38	Loss	SMPD5 OPLAH SPATC1 MIR6846
nsv515809	Chr.8:143904439 - 144519234 on Build GRCh38	Gain+Loss	MIR939 PPP1R16A SMPD5 SLC52A2 DGAT1 MIR6849 GPT TMEM249 MIR1234 SPATC1 MIR6847 SLC39A4 EXOSC4 OPLAH LOC101928953 MAF1 LRRC14 SHARPIN TONSL-AS1 GPAA1 PLEC PARP10 ADCK5 WDR97 HGH1 FBXL6 MIR661 CYHR1 HSF1 MIR7112 CYC1 KIFC2 MIR6893 MROH1 GRINA VPS28 CPSF1 FOXH1 LOC101928902 SCRT1 MFSD3 RECQL4 MIR6848 SCX BOP1 TONSL MIR6846
dgv12431n54	Chr.8:143845100 - 144161320 on Build GRCh38	Loss	SMPD5 WDR97 HGH1 MIR661 CYC1 MROH1 SPATC1 MIR6847 EXOSC4 GRINA EPPK1 OPLAH MAF1 SHARPIN GPAA1 PLEC MIR6846 PARP10
nsv428208	Chr.8:144041826 - 144722291 on Build GRCh38	Gain	MIR939 PPP1R16A SMPD5 SLC52A2 DGAT1 MIR6849 GPT TMEM249 MIR1234 SPATC1 MIR6847 SLC39A4 EXOSC4 ZNF251 C8orf82 OPLAH LOC101928953 MAF1 LRRC14 SHARPIN ARHGAP39 TONSL-AS1 GPAA1 ADCK5 WDR97 HGH1 FBXL6 CYHR1 HSF1 MIR7112 CYC1 KIFC2 LRRC24 MIR6893 MROH1 VPS28 CPSF1 FOXH1 LOC101928902 SCRT1 MFSD3 RECQL4 MIR6848 SCX BOP1 TONSL MIR6846
nsv470250	Chr.8:143917934 - 144097007 on Build GRCh38	Gain	SMPD5 MIR661 CYC1 OPLAH SPATC1 MIR6847 GPAA1 EXOSC4 PLEC GRINA MIR6846 PARP10
dgv12433n54	Chr.8:143902404 - 144120626 on Build GRCh38	Gain	SMPD5 WDR97 MIR661 CYC1 SPATC1 MIR6847 EXOSC4 GRINA OPLAH MAF1 SHARPIN GPAA1 PLEC MIR6846 PARP10
nsv612906	Chr.8:143917935 - 144090784 on Build GRCh38	Loss	SMPD5 MIR661 OPLAH SPATC1 MIR6847 GPAA1 EXOSC4 PLEC GRINA MIR6846 PARP10

More Information

• Set Membership: Intragenic, Exonic, DGV Variation