Assay Details
Target Gene Details
Entrez Gene ID: | 23587 |
Gene Name: | elongator acetyltransferase complex subunit 5 |
Gene Aliases: |
C17orf81, DERP6, HSPC002, MST071, MSTP071 |
Location: |
Chr.17:7252053-7259940 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ELP5 | NM_015362.4 | NP_056177.3 | ||
NM_203413.2 | 7 | 1822 | NP_981958.1 | |
NM_203414.2 | NP_981959.1 | |||
NM_203415.1 | NP_981960.1 | |||
XM_011523779.2 | XP_011522081.1 | |||
AB013910.1 | BAB87800.1 | |||
AF087868.1 | AAM10496.1 | |||
AF163262.1 | 6 | 1541 | AAQ13591.1 | |
AK225983.1 | ||||
AL713741.1 | 2 | 1166 | CAH56280.1 | |
BC002762.2 | AAH02762.2 | |||
BF921423.1 | ||||
BF982004.1 | ||||
BM970924.1 | ||||
CA431021.1 | ||||
CA450318.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv885e212 | Chr.17:7253579 - 7269312 on Build GRCh38 | Loss | CLDN7 ELP5 |
esv2422288 | Chr.17:6789933 - 7646709 on Build GRCh38 | Deletion | ALOX12 GABARAP SLC16A11 BCL6B YBX2 CHRNB1 TMEM256-PLSCR3 ACAP1 SLC35G6 MIR497HG POLR2A SENP3 TMEM95 SAT2 PLSCR3 CLDN7 TNK1 SENP3-EIF4A1 SLC16A13 ALOX12P2 GPS2 EIF4A1 ZBTB4 ACADVL RNASEK-C17orf49 PHF23 ASGR1 TEKT1 NLGN2 RNASEK MIR324 SNORA48 CLEC10A SOX15 C17orf74 FBXO39 LOC107983988 SNORD10 SPEM1 CTDNEP1 CD68 NEURL4 MPDU1 FXR2 MIR497 KCTD11 TNFSF13 ALOX12-AS1 TNFSF12 TNFSF12-TNFSF13 SHBG ATP1B2 C17orf49 DLG4 LOC100996842 MIR195 TMEM102 TMEM256 ELP5 SNORA67 FGF11 EIF5A DVL2 SLC2A4 ASGR2 |
esv3639861 | Chr.17:7198042 - 7261345 on Build GRCh38 | Loss | GABARAP ACADVL MIR324 CLDN7 DVL2 PHF23 ELP5 CTDNEP1 DLG4 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | GABARAP NLGN2 MIR324 C17orf74 LOC107983988 SPEM1 YBX2 CTDNEP1 CHRNB1 NEURL4 KCTD11 TMEM256-PLSCR3 ACAP1 DLG4 TMEM95 PLSCR3 CLDN7 TMEM102 TMEM256 TNK1 ELP5 GPS2 FGF11 ACADVL EIF5A DVL2 PHF23 SLC2A4 ASGR1 |
esv2665200 | Chr.17:7091816 - 7333062 on Build GRCh38 | Deletion | GABARAP MIR324 CLDN7 ELP5 YBX2 CTDNEP1 GPS2 NEURL4 ACADVL EIF5A DVL2 PHF23 SLC2A4 ASGR1 DLG4 ASGR2 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | ALOX12 GABARAP SLC16A11 TP53 BCL6B YBX2 CHRNB1 WRAP53 TMEM256-PLSCR3 ACAP1 SLC35G6 MIR497HG POLR2A SENP3 TMEM95 SAT2 PLSCR3 CLDN7 TNK1 SENP3-EIF4A1 SLC16A13 GPS2 EIF4A1 ZBTB4 ACADVL RNASEK-C17orf49 PHF23 ASGR1 NLGN2 RNASEK MIR324 SNORA48 CLEC10A SOX15 C17orf74 LOC107983988 SNORD10 SPEM1 CTDNEP1 CD68 NEURL4 MPDU1 FXR2 MIR497 KCTD11 TNFSF13 ALOX12-AS1 TNFSF12 TNFSF12-TNFSF13 SHBG ATP1B2 C17orf49 DLG4 LOC100996842 MIR195 TMEM102 TMEM256 ELP5 SNORA67 FGF11 EIF5A DVL2 SLC2A4 ASGR2 |
nsv1963 | Chr.17:7244585 - 7333855 on Build GRCh38 | Deletion | GPS2 NEURL4 EIF5A CLDN7 SLC2A4 ELP5 YBX2 CTDNEP1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |