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 3 - Intron 4 |
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 5 - Intron 6 |
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 | TEKT1 RNASEK-C17orf49 SLC35G6 ACADVL SENP3-EIF4A1 YBX2 ELP5 SPEM1 BCL6B MIR497 NLGN2 SAT2 LOC107983988 MPDU1 SLC2A4 CTDNEP1 MIR324 SENP3 ATP1B2 FXR2 SNORA67 TNK1 TNFSF12 SHBG POLR2A DLG4 MIR497HG SLC16A11 CLDN7 CLEC10A SNORA48 ASGR1 FGF11 DVL2 ALOX12-AS1 PHF23 MIR195 ACAP1 GABARAP CHRNB1 ALOX12 PLSCR3 SNORD10 GPS2 TMEM256-PLSCR3 TMEM102 FBXO39 TMEM95 TNFSF12-TNFSF13 EIF5A ZBTB4 KCTD11 RNASEK C17orf49 TNFSF13 ALOX12P2 EIF4A1 SLC16A13 TMEM256 CD68 ASGR2 C17orf74 SOX15 LOC100996842 NEURL4 |
nsv523672 | Chr.17:7379825 - 7549660 on Build GRCh38 | Loss | FGF11 SLC35G6 SPEM1 TNK1 CHRNB1 TNFSF12 POLR2A PLSCR3 TMEM256 TMEM256-PLSCR3 NLGN2 TMEM102 C17orf74 TNFSF12-TNFSF13 LOC107983988 ZBTB4 |
esv1007381 | Chr.17:7391600 - 7405025 on Build GRCh38 | Deletion | PLSCR3 TMEM256 TMEM256-PLSCR3 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | FGF11 DVL2 ACADVL PHF23 YBX2 ELP5 SPEM1 ACAP1 GABARAP CHRNB1 PLSCR3 GPS2 TMEM256-PLSCR3 NLGN2 TMEM102 TMEM95 EIF5A LOC107983988 SLC2A4 KCTD11 CTDNEP1 MIR324 TNK1 TMEM256 DLG4 CLDN7 C17orf74 ASGR1 NEURL4 |
nsv470575 | Chr.17:7388788 - 7432736 on Build GRCh38 | Loss | PLSCR3 TMEM256 TMEM256-PLSCR3 NLGN2 C17orf74 SPEM1 TNK1 LOC107983988 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | RNASEK-C17orf49 SLC35G6 ACADVL SENP3-EIF4A1 YBX2 ELP5 SPEM1 BCL6B MIR497 NLGN2 SAT2 LOC107983988 MPDU1 SLC2A4 CTDNEP1 MIR324 SENP3 ATP1B2 FXR2 SNORA67 TNK1 TNFSF12 SHBG POLR2A DLG4 MIR497HG TP53 SLC16A11 CLDN7 CLEC10A SNORA48 ASGR1 FGF11 DVL2 ALOX12-AS1 PHF23 MIR195 ACAP1 GABARAP CHRNB1 ALOX12 PLSCR3 SNORD10 GPS2 TMEM256-PLSCR3 TMEM102 TMEM95 TNFSF12-TNFSF13 EIF5A ZBTB4 WRAP53 KCTD11 RNASEK C17orf49 TNFSF13 EIF4A1 SLC16A13 TMEM256 CD68 ASGR2 C17orf74 SOX15 LOC100996842 NEURL4 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |