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 2 - Exon 3 |
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 | GPS2 TMEM102 SAT2 SENP3-EIF4A1 SLC16A13 SPEM1 CD68 ASGR2 SLC2A4 DLG4 ATP1B2 SNORA48 ELP5 LOC107983988 TMEM95 TEKT1 C17orf74 ALOX12P2 NEURL4 MIR497 ZBTB4 C17orf49 ALOX12 SNORA67 TNK1 SOX15 LOC100996842 SLC35G6 EIF5A MIR497HG TNFSF12-TNFSF13 ASGR1 TNFSF13 SHBG FGF11 EIF4A1 SNORD10 GABARAP YBX2 CHRNB1 ACADVL ACAP1 MIR324 TMEM256-PLSCR3 POLR2A RNASEK-C17orf49 TNFSF12 SENP3 DVL2 KCTD11 SLC16A11 MIR195 CLDN7 MPDU1 ALOX12-AS1 PLSCR3 CLEC10A BCL6B FXR2 CTDNEP1 RNASEK PHF23 FBXO39 TMEM256 NLGN2 |
esv2662967 | Chr.17:7403326 - 7408473 on Build GRCh38 | Deletion | TMEM256-PLSCR3 TMEM256 NLGN2 |
nsv523672 | Chr.17:7379825 - 7549660 on Build GRCh38 | Loss | TMEM102 CHRNB1 PLSCR3 SPEM1 ZBTB4 TMEM256-PLSCR3 TNK1 SLC35G6 TNFSF12-TNFSF13 POLR2A LOC107983988 FGF11 TNFSF12 TMEM256 C17orf74 NLGN2 |
esv1007381 | Chr.17:7391600 - 7405025 on Build GRCh38 | Deletion | PLSCR3 TMEM256-PLSCR3 TMEM256 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | YBX2 GPS2 TMEM102 CHRNB1 ACADVL SPEM1 ACAP1 MIR324 TMEM256-PLSCR3 SLC2A4 DLG4 ELP5 LOC107983988 TMEM95 C17orf74 DVL2 KCTD11 NEURL4 CLDN7 PLSCR3 TNK1 EIF5A CTDNEP1 PHF23 ASGR1 FGF11 TMEM256 NLGN2 GABARAP |
nsv470575 | Chr.17:7388788 - 7432736 on Build GRCh38 | Loss | PLSCR3 SPEM1 LOC107983988 TMEM256-PLSCR3 TNK1 TMEM256 C17orf74 NLGN2 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | GPS2 TMEM102 SAT2 SENP3-EIF4A1 SLC16A13 SPEM1 CD68 ASGR2 SLC2A4 DLG4 ATP1B2 SNORA48 ELP5 LOC107983988 TMEM95 C17orf74 NEURL4 MIR497 ZBTB4 C17orf49 ALOX12 SNORA67 TNK1 SOX15 LOC100996842 TP53 SLC35G6 EIF5A MIR497HG TNFSF12-TNFSF13 ASGR1 TNFSF13 SHBG FGF11 EIF4A1 SNORD10 GABARAP YBX2 CHRNB1 ACADVL ACAP1 MIR324 TMEM256-PLSCR3 POLR2A RNASEK-C17orf49 TNFSF12 SENP3 DVL2 KCTD11 SLC16A11 MIR195 CLDN7 MPDU1 ALOX12-AS1 PLSCR3 CLEC10A BCL6B FXR2 CTDNEP1 WRAP53 RNASEK PHF23 TMEM256 NLGN2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |