Assay Details
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 | 1712 | NP_001188505.1 |
NM_020360.3 | 8 | 1820 | NP_065093.2 | |
AF159442.1 | 8 | 1439 | AAF91083.1 | |
AF289602.1 | 8 | 1494 | AAL55786.1 | |
AK075188.1 | 8 | 1505 | BAC11458.1 | |
AK098229.1 | 7 | 1766 | ||
AK124006.1 | 5 | 2063 | ||
BC011735.2 | 7 | 1346 | AAH11735.1 | |
BC093026.1 | 8 | 1509 | 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 | 1800 | |
AK055822.1 | 11 | 2314 |
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 | PHF23 CLDN7 GABARAP MPDU1 ASGR2 ZBTB4 CTDNEP1 SNORD10 SNORA67 SLC2A4 SHBG ALOX12-AS1 PLSCR3 RNASEK-C17orf49 EIF5A SAT2 MIR195 C17orf74 TNFSF12-TNFSF13 FXR2 NLGN2 FBXO39 DVL2 SNORA48 LOC107983988 ASGR1 ELP5 TMEM256 EIF4A1 TNK1 ATP1B2 SOX15 MIR497HG SPEM1 TNFSF12 TMEM102 POLR2A C17orf49 NEURL4 SLC16A13 TNFSF13 BCL6B DLG4 SENP3 FGF11 CHRNB1 YBX2 ACADVL KCTD11 ALOX12P2 MIR324 ALOX12 TMEM95 LOC100996842 RNASEK SLC16A11 CLEC10A TMEM256-PLSCR3 CD68 SENP3-EIF4A1 SLC35G6 MIR497 TEKT1 GPS2 ACAP1 |
nsv523672 | Chr.17:7379825 - 7549660 on Build GRCh38 | Loss | C17orf74 TNFSF12-TNFSF13 NLGN2 ZBTB4 LOC107983988 SPEM1 PLSCR3 TNFSF12 TMEM102 POLR2A TMEM256-PLSCR3 SLC35G6 TMEM256 TNK1 FGF11 CHRNB1 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | PHF23 CLDN7 GABARAP CTDNEP1 SLC2A4 SPEM1 PLSCR3 TMEM102 NEURL4 EIF5A DLG4 FGF11 CHRNB1 YBX2 C17orf74 ACADVL KCTD11 NLGN2 MIR324 TMEM95 DVL2 LOC107983988 ASGR1 ELP5 TMEM256-PLSCR3 GPS2 TMEM256 ACAP1 TNK1 |
nsv470575 | Chr.17:7388788 - 7432736 on Build GRCh38 | Loss | C17orf74 LOC107983988 SPEM1 NLGN2 PLSCR3 TMEM256-PLSCR3 TMEM256 TNK1 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | PHF23 CLDN7 WRAP53 GABARAP MPDU1 ASGR2 ZBTB4 CTDNEP1 SNORD10 SNORA67 SLC2A4 SHBG ALOX12-AS1 PLSCR3 RNASEK-C17orf49 EIF5A SAT2 MIR195 C17orf74 TNFSF12-TNFSF13 FXR2 NLGN2 TP53 DVL2 SNORA48 LOC107983988 ASGR1 ELP5 TMEM256 EIF4A1 TNK1 ATP1B2 SOX15 MIR497HG SPEM1 TNFSF12 TMEM102 POLR2A C17orf49 NEURL4 SLC16A13 TNFSF13 BCL6B DLG4 SENP3 FGF11 CHRNB1 YBX2 ACADVL KCTD11 MIR324 ALOX12 TMEM95 LOC100996842 RNASEK SLC16A11 CLEC10A TMEM256-PLSCR3 CD68 SENP3-EIF4A1 SLC35G6 MIR497 GPS2 ACAP1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |