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	MPDU1 CTDNEP1 YBX2 BCL6B RNASEK ALOX12-AS1 ZBTB4 ALOX12P2 SNORA67 SLC16A13 PHF23 FGF11 TMEM95 ACAP1 SENP3-EIF4A1 TNFSF13 ELP5 CHRNB1 ASGR1 SLC35G6 C17orf74 TMEM256-PLSCR3 LOC107983988 CLEC10A FXR2 TNK1 ASGR2 C17orf49 SAT2 LOC100996842 GABARAP TEKT1 SLC2A4 DVL2 SLC16A11 PLSCR3 MIR497HG SPEM1 SOX15 ACADVL MIR497 TNFSF12-TNFSF13 KCTD11 GPS2 TMEM102 SENP3 DLG4 CLDN7 NEURL4 EIF5A FBXO39 RNASEK-C17orf49 POLR2A MIR195 EIF4A1 CD68 MIR324 TMEM256 SNORD10 SNORA48 NLGN2 ATP1B2 ALOX12 SHBG TNFSF12
nsv523672	Chr.17:7379825 - 7549660 on Build GRCh38	Loss	POLR2A PLSCR3 CHRNB1 SLC35G6 C17orf74 TMEM256-PLSCR3 SPEM1 LOC107983988 TMEM256 TNFSF12-TNFSF13 TNK1 NLGN2 ZBTB4 TMEM102 FGF11 TNFSF12
nsv952118	Chr.17:7174582 - 7456981 on Build GRCh38	Deletion	SLC2A4 DVL2 CTDNEP1 PLSCR3 YBX2 SPEM1 ACADVL KCTD11 GPS2 TMEM102 PHF23 FGF11 DLG4 CLDN7 TMEM95 ACAP1 NEURL4 EIF5A ELP5 CHRNB1 ASGR1 C17orf74 MIR324 TMEM256-PLSCR3 LOC107983988 TMEM256 TNK1 NLGN2 GABARAP
nsv470575	Chr.17:7388788 - 7432736 on Build GRCh38	Loss	TNK1 NLGN2 PLSCR3 C17orf74 TMEM256-PLSCR3 SPEM1 LOC107983988 TMEM256
nsv574322	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	MPDU1 CTDNEP1 YBX2 BCL6B RNASEK ALOX12-AS1 ZBTB4 SNORA67 SLC16A13 PHF23 FGF11 TMEM95 ACAP1 SENP3-EIF4A1 TNFSF13 ELP5 CHRNB1 ASGR1 SLC35G6 C17orf74 TMEM256-PLSCR3 LOC107983988 CLEC10A FXR2 TNK1 ASGR2 C17orf49 SAT2 LOC100996842 TP53 GABARAP SLC2A4 DVL2 SLC16A11 PLSCR3 MIR497HG WRAP53 SPEM1 SOX15 ACADVL MIR497 TNFSF12-TNFSF13 KCTD11 GPS2 TMEM102 SENP3 DLG4 CLDN7 NEURL4 EIF5A RNASEK-C17orf49 POLR2A MIR195 EIF4A1 CD68 MIR324 TMEM256 SNORD10 SNORA48 NLGN2 ATP1B2 ALOX12 SHBG TNFSF12

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