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: | Overlaps Intron 7 - Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PLSCR3 | NM_001201576.1 | NP_001188505.1 | ||
NM_020360.3 | NP_065093.2 | |||
AF159442.1 | AAF91083.1 | |||
AF289602.1 | AAL55786.1 | |||
AK075188.1 | BAC11458.1 | |||
AK098229.1 | ||||
AK124006.1 | ||||
AK314643.1 | ||||
BC011735.2 | AAH11735.1 | |||
BC093026.1 | 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: | Overlaps Intron 9 - Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TMEM256-PLSCR3 | NR_037719.1 | |||
AK055822.1 | ||||
AK290117.1 |
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 | C17orf74 TMEM95 SNORA67 ATP1B2 MIR497HG SLC35G6 RNASEK-C17orf49 SNORA48 YBX2 FXR2 NEURL4 CLDN7 ALOX12 FBXO39 TMEM102 C17orf49 LOC107983988 CTDNEP1 ALOX12P2 PLSCR3 SENP3-EIF4A1 TNK1 RNASEK TNFSF13 CLEC10A GABARAP SLC16A13 TNFSF12-TNFSF13 POLR2A SHBG ACADVL TEKT1 ELP5 CHRNB1 DLG4 ASGR2 MIR195 DVL2 NLGN2 TNFSF12 ALOX12-AS1 SLC2A4 LOC100996842 MPDU1 KCTD11 SLC16A11 ASGR1 FGF11 MIR324 CD68 SAT2 ZBTB4 TMEM256-PLSCR3 TMEM256 SENP3 EIF5A PHF23 SNORD10 MIR497 ACAP1 GPS2 EIF4A1 BCL6B SPEM1 SOX15 |
nsv523672 | Chr.17:7379825 - 7549660 on Build GRCh38 | Loss | C17orf74 CHRNB1 SLC35G6 ZBTB4 TMEM256-PLSCR3 NLGN2 TMEM256 TNFSF12 TNK1 TMEM102 LOC107983988 SPEM1 TNFSF12-TNFSF13 PLSCR3 POLR2A FGF11 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | C17orf74 TMEM95 ACADVL ELP5 CHRNB1 DLG4 YBX2 DVL2 NLGN2 SLC2A4 NEURL4 CLDN7 TMEM102 LOC107983988 CTDNEP1 KCTD11 ASGR1 PLSCR3 FGF11 MIR324 TMEM256-PLSCR3 TMEM256 TNK1 EIF5A GABARAP PHF23 ACAP1 GPS2 SPEM1 |
nsv470575 | Chr.17:7388788 - 7432736 on Build GRCh38 | Loss | C17orf74 LOC107983988 TMEM256-PLSCR3 SPEM1 NLGN2 TMEM256 PLSCR3 TNK1 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | C17orf74 TMEM95 SNORA67 ATP1B2 MIR497HG SLC35G6 RNASEK-C17orf49 SNORA48 YBX2 FXR2 NEURL4 CLDN7 ALOX12 TMEM102 C17orf49 LOC107983988 CTDNEP1 PLSCR3 SENP3-EIF4A1 TNK1 RNASEK TNFSF13 CLEC10A GABARAP SLC16A13 TNFSF12-TNFSF13 POLR2A SHBG ACADVL ELP5 CHRNB1 DLG4 ASGR2 MIR195 TP53 DVL2 NLGN2 TNFSF12 ALOX12-AS1 SLC2A4 LOC100996842 MPDU1 KCTD11 SLC16A11 ASGR1 FGF11 MIR324 CD68 SAT2 ZBTB4 TMEM256-PLSCR3 TMEM256 SENP3 EIF5A WRAP53 PHF23 SNORD10 MIR497 ACAP1 GPS2 EIF4A1 BCL6B SPEM1 SOX15 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |