Assay Details
Target Gene Details
Entrez Gene ID: | 23399 |
Gene Name: | CTD nuclear envelope phosphatase 1 |
Gene Aliases: |
DULLARD, HSA011916, NET56 |
Location: |
Chr.17:7243587-7251940 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CTDNEP1 | NM_001143775.1 | NP_001137247.1 | ||
NM_015343.4 | NP_056158.2 | |||
AJ011916.1 | CAA09865.1 | |||
AY364239.1 | AAQ76798.1 | |||
BC009295.2 | AAH09295.1 |
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 | MPDU1 SLC16A13 TMEM256 TMEM256-PLSCR3 CTDNEP1 SPEM1 ZBTB4 ASGR2 ALOX12-AS1 TNK1 KCTD11 ACADVL TNFSF12 PHF23 MIR324 EIF4A1 SLC2A4 BCL6B DVL2 CLEC10A C17orf74 DLG4 LOC107983988 SENP3-EIF4A1 MIR497 SENP3 ACAP1 PLSCR3 SOX15 LOC100996842 CLDN7 ALOX12 SHBG SNORA67 CHRNB1 EIF5A SLC35G6 TMEM102 TNFSF13 SLC16A11 NLGN2 FBXO39 ELP5 MIR497HG RNASEK-C17orf49 SNORA48 GABARAP ASGR1 GPS2 ALOX12P2 MIR195 TNFSF12-TNFSF13 RNASEK POLR2A ATP1B2 SNORD10 FGF11 TMEM95 FXR2 C17orf49 CD68 YBX2 SAT2 NEURL4 TEKT1 |
esv3639861 | Chr.17:7198042 - 7261345 on Build GRCh38 | Loss | GABARAP DVL2 ACADVL CLDN7 PHF23 MIR324 ELP5 DLG4 CTDNEP1 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | CHRNB1 EIF5A TMEM102 NLGN2 TMEM256 ELP5 TMEM256-PLSCR3 CTDNEP1 SPEM1 TNK1 KCTD11 GABARAP ACADVL ASGR1 GPS2 PHF23 MIR324 SLC2A4 DVL2 FGF11 C17orf74 DLG4 LOC107983988 TMEM95 YBX2 ACAP1 PLSCR3 CLDN7 NEURL4 |
esv2665200 | Chr.17:7091816 - 7333062 on Build GRCh38 | Deletion | EIF5A DVL2 ELP5 DLG4 CTDNEP1 YBX2 ASGR2 GABARAP ACADVL CLDN7 ASGR1 NEURL4 GPS2 PHF23 MIR324 SLC2A4 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | MPDU1 SLC16A13 TMEM256 TMEM256-PLSCR3 CTDNEP1 SPEM1 ZBTB4 ASGR2 ALOX12-AS1 TNK1 KCTD11 ACADVL TNFSF12 PHF23 MIR324 EIF4A1 SLC2A4 BCL6B TP53 DVL2 CLEC10A C17orf74 WRAP53 DLG4 LOC107983988 SENP3-EIF4A1 MIR497 SENP3 ACAP1 PLSCR3 SOX15 LOC100996842 CLDN7 ALOX12 SHBG SNORA67 CHRNB1 EIF5A SLC35G6 TMEM102 TNFSF13 SLC16A11 NLGN2 ELP5 MIR497HG RNASEK-C17orf49 SNORA48 GABARAP ASGR1 GPS2 MIR195 TNFSF12-TNFSF13 RNASEK POLR2A ATP1B2 SNORD10 FGF11 TMEM95 FXR2 C17orf49 CD68 YBX2 SAT2 NEURL4 |
nsv1963 | Chr.17:7244585 - 7333855 on Build GRCh38 | Deletion | YBX2 EIF5A CLDN7 NEURL4 GPS2 ELP5 CTDNEP1 SLC2A4 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |