Assay Details
Target Gene Details
Entrez Gene ID: | 254863 |
Gene Name: | transmembrane protein 256 |
Gene Aliases: |
C17orf61 |
Location: |
Chr.17:7402974-7404131 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 3 - Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TMEM256 | NM_152766.3 | NP_689979.1 | ||
BC030270.2 | AAH30270.1 | |||
BM749297.1 | ||||
CB140450.1 | ||||
EB386328.1 |
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 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 | SLC35G6 SNORA67 SLC16A11 SENP3 POLR2A EIF5A TMEM95 SLC2A4 ACAP1 DLG4 ASGR1 RNASEK-C17orf49 CTDNEP1 ALOX12 FGF11 SNORA48 TMEM256 ATP1B2 TNFSF13 NEURL4 SAT2 FXR2 TNK1 C17orf74 GPS2 SHBG LOC107983988 SENP3-EIF4A1 SNORD10 LOC100996842 CLEC10A GABARAP TEKT1 CLDN7 TMEM256-PLSCR3 ALOX12-AS1 SPEM1 MIR497HG MIR324 RNASEK ELP5 YBX2 ZBTB4 DVL2 MPDU1 SOX15 FBXO39 BCL6B TMEM102 MIR497 PLSCR3 C17orf49 ALOX12P2 ASGR2 KCTD11 MIR195 NLGN2 CD68 TNFSF12-TNFSF13 SLC16A13 PHF23 TNFSF12 EIF4A1 CHRNB1 ACADVL |
nsv523672 | Chr.17:7379825 - 7549660 on Build GRCh38 | Loss | SLC35G6 TNK1 C17orf74 TMEM256-PLSCR3 SPEM1 LOC107983988 ZBTB4 POLR2A NLGN2 TNFSF12-TNFSF13 TMEM102 TNFSF12 CHRNB1 PLSCR3 FGF11 TMEM256 |
esv1007381 | Chr.17:7391600 - 7405025 on Build GRCh38 | Deletion | TMEM256-PLSCR3 PLSCR3 TMEM256 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | CLDN7 TMEM256-PLSCR3 SPEM1 MIR324 ELP5 YBX2 DVL2 EIF5A TMEM95 SLC2A4 ACAP1 DLG4 ASGR1 CTDNEP1 TMEM102 PLSCR3 FGF11 TMEM256 KCTD11 NEURL4 TNK1 C17orf74 GPS2 LOC107983988 NLGN2 GABARAP PHF23 CHRNB1 ACADVL |
nsv470575 | Chr.17:7388788 - 7432736 on Build GRCh38 | Loss | TNK1 C17orf74 TMEM256-PLSCR3 SPEM1 LOC107983988 PLSCR3 TMEM256 NLGN2 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | SLC35G6 SNORA67 SLC16A11 SENP3 POLR2A EIF5A TMEM95 SLC2A4 ACAP1 DLG4 ASGR1 RNASEK-C17orf49 CTDNEP1 ALOX12 TP53 FGF11 SNORA48 TMEM256 ATP1B2 TNFSF13 NEURL4 SAT2 FXR2 TNK1 C17orf74 WRAP53 GPS2 SHBG LOC107983988 SENP3-EIF4A1 SNORD10 LOC100996842 CLEC10A GABARAP CLDN7 TMEM256-PLSCR3 ALOX12-AS1 SPEM1 MIR497HG MIR324 RNASEK ELP5 YBX2 ZBTB4 DVL2 MPDU1 SOX15 BCL6B TMEM102 MIR497 PLSCR3 C17orf49 ASGR2 KCTD11 MIR195 NLGN2 CD68 TNFSF12-TNFSF13 SLC16A13 PHF23 TNFSF12 EIF4A1 CHRNB1 ACADVL |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |