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 | 1336 | NP_001188505.1 |
NM_020360.3 | 8 | 1444 | NP_065093.2 | |
AF159442.1 | 8 | 1063 | AAF91083.1 | |
AF289602.1 | 8 | 1118 | AAL55786.1 | |
AK075188.1 | 8 | 1129 | BAC11458.1 | |
AK098229.1 | 7 | 1390 | ||
AK124006.1 | 5 | 1687 | ||
AK314643.1 | ||||
BC011735.2 | 7 | 970 | AAH11735.1 | |
BC093026.1 | 8 | 1133 | 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 | 1424 | |
AK055822.1 | 11 | 1938 | ||
AK290117.1 | 10 | 1388 |
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 | LOC100996842 SENP3-EIF4A1 C17orf74 TNFSF12-TNFSF13 TEKT1 ZBTB4 MPDU1 ALOX12P2 ASGR1 LOC107983988 DLG4 ELP5 TNFSF12 GPS2 ACAP1 TMEM256 POLR2A MIR497HG ATP1B2 SNORA67 SENP3 ALOX12 GABARAP C17orf49 SPEM1 PLSCR3 SNORA48 PHF23 FGF11 TNK1 EIF4A1 NLGN2 SLC2A4 SAT2 MIR497 BCL6B KCTD11 MIR195 MIR324 CLEC10A TNFSF13 DVL2 RNASEK TMEM256-PLSCR3 NEURL4 CD68 SLC16A11 EIF5A YBX2 CLDN7 SLC35G6 CHRNB1 FBXO39 CTDNEP1 ASGR2 ACADVL SOX15 SNORD10 TMEM95 SHBG RNASEK-C17orf49 TMEM102 FXR2 ALOX12-AS1 SLC16A13 |
nsv523672 | Chr.17:7379825 - 7549660 on Build GRCh38 | Loss | C17orf74 TNFSF12-TNFSF13 ZBTB4 LOC107983988 SLC35G6 TNFSF12 CHRNB1 SPEM1 PLSCR3 FGF11 TMEM256-PLSCR3 TMEM256 TNK1 POLR2A NLGN2 TMEM102 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | C17orf74 ASGR1 LOC107983988 SLC2A4 KCTD11 DLG4 ELP5 MIR324 DVL2 GPS2 TMEM256-PLSCR3 NEURL4 ACAP1 TMEM256 EIF5A YBX2 CLDN7 GABARAP CHRNB1 SPEM1 PLSCR3 CTDNEP1 PHF23 ACADVL FGF11 TMEM95 TNK1 NLGN2 TMEM102 |
nsv470575 | Chr.17:7388788 - 7432736 on Build GRCh38 | Loss | C17orf74 SPEM1 PLSCR3 LOC107983988 TMEM256-PLSCR3 TMEM256 TNK1 NLGN2 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | LOC100996842 SENP3-EIF4A1 C17orf74 TNFSF12-TNFSF13 ZBTB4 MPDU1 ASGR1 LOC107983988 DLG4 ELP5 TNFSF12 TP53 GPS2 ACAP1 TMEM256 POLR2A MIR497HG ATP1B2 SNORA67 SENP3 ALOX12 GABARAP C17orf49 SPEM1 PLSCR3 SNORA48 PHF23 FGF11 TNK1 EIF4A1 NLGN2 SLC2A4 SAT2 MIR497 BCL6B KCTD11 MIR195 MIR324 CLEC10A TNFSF13 DVL2 RNASEK TMEM256-PLSCR3 NEURL4 CD68 SLC16A11 EIF5A WRAP53 YBX2 CLDN7 SLC35G6 CHRNB1 CTDNEP1 ASGR2 ACADVL SOX15 SNORD10 TMEM95 SHBG RNASEK-C17orf49 TMEM102 FXR2 ALOX12-AS1 SLC16A13 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |