Assay Details
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 Intron 2 |
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 | TMEM95 EIF5A SLC35G6 TNFSF12 C17orf49 MPDU1 CLDN7 EIF4A1 CD68 NLGN2 TNFSF13 SNORA67 SLC16A11 TEKT1 SOX15 ALOX12P2 FBXO39 SLC2A4 GABARAP PLSCR3 PHF23 FXR2 POLR2A MIR324 CHRNB1 ALOX12-AS1 LOC100996842 ACADVL ASGR1 SPEM1 YBX2 SENP3 SNORD10 TMEM256-PLSCR3 TMEM102 ACAP1 GPS2 ASGR2 MIR497HG FGF11 MIR497 TNK1 RNASEK-C17orf49 RNASEK SLC16A13 DVL2 BCL6B ALOX12 SAT2 NEURL4 DLG4 ELP5 C17orf74 TMEM256 MIR195 ZBTB4 SNORA48 ATP1B2 LOC107983988 SENP3-EIF4A1 CTDNEP1 KCTD11 SHBG CLEC10A TNFSF12-TNFSF13 |
nsv523672 | Chr.17:7379825 - 7549660 on Build GRCh38 | Loss | TMEM256 FGF11 TNK1 SLC35G6 ZBTB4 TNFSF12 CHRNB1 LOC107983988 NLGN2 PLSCR3 SPEM1 POLR2A TNFSF12-TNFSF13 TMEM256-PLSCR3 TMEM102 C17orf74 |
esv1007381 | Chr.17:7391600 - 7405025 on Build GRCh38 | Deletion | TMEM256 PLSCR3 TMEM256-PLSCR3 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | GPS2 FGF11 TMEM95 TNK1 EIF5A CLDN7 DVL2 NLGN2 SLC2A4 GABARAP PLSCR3 NEURL4 DLG4 PHF23 ELP5 C17orf74 MIR324 TMEM256 CHRNB1 LOC107983988 CTDNEP1 ACADVL KCTD11 ASGR1 SPEM1 YBX2 TMEM256-PLSCR3 TMEM102 ACAP1 |
nsv470575 | Chr.17:7388788 - 7432736 on Build GRCh38 | Loss | TMEM256 TNK1 PLSCR3 SPEM1 LOC107983988 TMEM256-PLSCR3 NLGN2 C17orf74 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | WRAP53 TMEM95 EIF5A SLC35G6 TNFSF12 C17orf49 MPDU1 CLDN7 EIF4A1 CD68 NLGN2 TNFSF13 SNORA67 SLC16A11 SOX15 SLC2A4 GABARAP PLSCR3 PHF23 FXR2 POLR2A MIR324 TP53 CHRNB1 ALOX12-AS1 LOC100996842 ACADVL ASGR1 SPEM1 YBX2 SENP3 SNORD10 TMEM256-PLSCR3 TMEM102 ACAP1 GPS2 ASGR2 MIR497HG FGF11 MIR497 TNK1 RNASEK-C17orf49 RNASEK SLC16A13 DVL2 BCL6B ALOX12 SAT2 NEURL4 DLG4 ELP5 C17orf74 TMEM256 MIR195 ZBTB4 SNORA48 ATP1B2 LOC107983988 SENP3-EIF4A1 CTDNEP1 KCTD11 SHBG CLEC10A TNFSF12-TNFSF13 |