Hs02770708_cn

• Gene Symbol: PLSCR3
• Assay Reference Genome Location: Chr.17:7389828 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	1861	NP_001188505.1
	NM_020360.3	8	1969	NP_065093.2
	AF159442.1	8	1588	AAF91083.1
	AF289602.1	8	1643	AAL55786.1
	AK075188.1	8	1654	BAC11458.1
	AK098229.1	7	1915
	AK124006.1	5	2212
	BC011735.2	7	1495	AAH11735.1
	BC093026.1	8	1658	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	1949
	AK055822.1	11	2463

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

More Information

• 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