Hs02120776_cn

• Gene Symbol: PLSCR3
• Assay Reference Genome Location: Chr.17:7390175 on build GRCh38
• Cytoband: 17p13.1

Target Gene Details

• Entrez Gene ID: 57048
• Gene Name: phospholipid scramblase 3
• Gene Aliases: -
• Location: Chr.17:7389727-7394843 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLSCR3	NM_001201576.1	8	1514	NP_001188505.1
	NM_020360.3	8	1622	NP_065093.2
	AF159442.1	8	1241	AAF91083.1
	AF289602.1	8	1296	AAL55786.1
	AK075188.1	8	1307	BAC11458.1
	AK098229.1	7	1568
	AK124006.1	5	1865
	BC011735.2	7	1148	AAH11735.1
	BC093026.1	8	1311	AAH93026.1

Target Gene Details

• Entrez Gene ID: 100529211
• Gene Name: TMEM256-PLSCR3 readthrough (NMD candidate)
• Gene Aliases: C17orf61-PLSCR3
• Location: Chr.17:7389727-7404131 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMEM256-PLSCR3	NR_037719.1	10	1602
	AK055822.1	11	2116
	AK290117.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422288	Chr.17:6789933 - 7646709 on Build GRCh38	Deletion	NLGN2 C17orf74 SNORA48 TNK1 ALOX12-AS1 POLR2A NEURL4 RNASEK-C17orf49 SOX15 DVL2 MIR195 EIF4A1 SPEM1 KCTD11 ASGR2 ALOX12 MIR497 SENP3 ELP5 SENP3-EIF4A1 ATP1B2 SLC16A11 GPS2 SLC2A4 CLEC10A TNFSF12-TNFSF13 TMEM102 CTDNEP1 MIR497HG ZBTB4 SLC16A13 TNFSF12 YBX2 SNORD10 CD68 LOC100996842 C17orf49 SNORA67 SHBG PHF23 TMEM95 MPDU1 BCL6B MIR324 FXR2 GABARAP ACADVL FGF11 LOC107983988 RNASEK SAT2 TMEM256-PLSCR3 TNFSF13 ALOX12P2 EIF5A ASGR1 TMEM256 PLSCR3 FBXO39 SLC35G6 CLDN7 DLG4 CHRNB1 ACAP1 TEKT1
nsv523672	Chr.17:7379825 - 7549660 on Build GRCh38	Loss	NLGN2 C17orf74 FGF11 TNFSF12 LOC107983988 TNK1 POLR2A TMEM256-PLSCR3 TNFSF12-TNFSF13 TMEM256 TMEM102 PLSCR3 SLC35G6 ZBTB4 SPEM1 CHRNB1
nsv952118	Chr.17:7174582 - 7456981 on Build GRCh38	Deletion	NLGN2 C17orf74 YBX2 TNK1 NEURL4 PHF23 TMEM95 DVL2 MIR324 GABARAP SPEM1 ACADVL KCTD11 FGF11 ELP5 LOC107983988 TMEM256-PLSCR3 GPS2 SLC2A4 EIF5A ASGR1 TMEM256 TMEM102 PLSCR3 CTDNEP1 CLDN7 DLG4 CHRNB1 ACAP1
nsv470575	Chr.17:7388788 - 7432736 on Build GRCh38	Loss	NLGN2 C17orf74 TMEM256 LOC107983988 PLSCR3 TNK1 SPEM1 TMEM256-PLSCR3
nsv457659	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	NLGN2 C17orf74 SNORA48 TNK1 ALOX12-AS1 POLR2A NEURL4 RNASEK-C17orf49 SOX15 DVL2 MIR195 EIF4A1 SPEM1 KCTD11 ASGR2 ALOX12 MIR497 SENP3 ELP5 SENP3-EIF4A1 ATP1B2 SLC16A11 WRAP53 GPS2 SLC2A4 CLEC10A TNFSF12-TNFSF13 TMEM102 CTDNEP1 MIR497HG ZBTB4 SLC16A13 TNFSF12 TP53 YBX2 SNORD10 CD68 LOC100996842 C17orf49 SNORA67 SHBG PHF23 TMEM95 MPDU1 BCL6B MIR324 FXR2 GABARAP ACADVL FGF11 LOC107983988 RNASEK SAT2 TMEM256-PLSCR3 TNFSF13 EIF5A ASGR1 TMEM256 PLSCR3 SLC35G6 CLDN7 DLG4 CHRNB1 ACAP1

More Information

Additional Information:

For this assay, SNP(s) [rs77407748] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Process(es)

apoptotic process
phospholipid scrambling
glucose homeostasis
cholesterol homeostasis
cellular response to lipopolysaccharide

Function(s)

calcium ion binding
protein binding
SH3 domain binding
phospholipid scramblase activity
calcium-dependent protein binding