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

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