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