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 | 1563 | 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 | 1282 | AAQ13591.1 | |
AK225983.1 | ||||
AL713741.1 | 2 | 907 | CAH56280.1 | |
BC002762.2 | AAH02762.2 | |||
BF921423.1 | 1 | 209 | ||
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 | ELP5 CLDN7 |
esv2422288 | Chr.17:6789933 - 7646709 on Build GRCh38 | Deletion | SLC16A11 LOC107983988 RNASEK ZBTB4 TMEM256-PLSCR3 SHBG ALOX12P2 ALOX12-AS1 MIR497 ASGR1 DVL2 FGF11 MIR324 FXR2 CLDN7 ATP1B2 KCTD11 ALOX12 TMEM95 TEKT1 C17orf74 TNFSF12-TNFSF13 ELP5 MPDU1 DLG4 ACADVL TNFSF13 LOC100996842 YBX2 MIR497HG ACAP1 PHF23 SOX15 SENP3 NEURL4 EIF5A CHRNB1 ASGR2 SENP3-EIF4A1 CLEC10A SNORA48 MIR195 BCL6B TMEM102 TNFSF12 RNASEK-C17orf49 GABARAP POLR2A SLC16A13 FBXO39 CTDNEP1 SLC2A4 TNK1 SLC35G6 SNORA67 C17orf49 NLGN2 SPEM1 GPS2 SNORD10 SAT2 PLSCR3 TMEM256 EIF4A1 CD68 |
esv3639861 | Chr.17:7198042 - 7261345 on Build GRCh38 | Loss | GABARAP DVL2 PHF23 ELP5 MIR324 CLDN7 CTDNEP1 DLG4 ACADVL |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | CHRNB1 LOC107983988 TMEM256-PLSCR3 TMEM102 ASGR1 GABARAP DVL2 FGF11 MIR324 CLDN7 KCTD11 CTDNEP1 SLC2A4 TNK1 TMEM95 C17orf74 ELP5 NLGN2 DLG4 ACADVL YBX2 SPEM1 ACAP1 PHF23 GPS2 PLSCR3 TMEM256 NEURL4 EIF5A |
esv2665200 | Chr.17:7091816 - 7333062 on Build GRCh38 | Deletion | ASGR2 ELP5 DLG4 ACADVL YBX2 ASGR1 GABARAP DVL2 PHF23 GPS2 MIR324 CLDN7 CTDNEP1 SLC2A4 NEURL4 EIF5A |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | SLC16A11 LOC107983988 RNASEK ZBTB4 TMEM256-PLSCR3 SHBG ALOX12-AS1 MIR497 ASGR1 DVL2 FGF11 MIR324 FXR2 CLDN7 ATP1B2 KCTD11 ALOX12 TMEM95 C17orf74 TNFSF12-TNFSF13 ELP5 MPDU1 DLG4 ACADVL TNFSF13 LOC100996842 YBX2 MIR497HG ACAP1 PHF23 SOX15 SENP3 NEURL4 EIF5A CHRNB1 ASGR2 SENP3-EIF4A1 CLEC10A SNORA48 WRAP53 MIR195 BCL6B TMEM102 TNFSF12 RNASEK-C17orf49 GABARAP POLR2A SLC16A13 CTDNEP1 TP53 SLC2A4 TNK1 SLC35G6 SNORA67 C17orf49 NLGN2 SPEM1 GPS2 SNORD10 SAT2 PLSCR3 TMEM256 EIF4A1 CD68 |
nsv1963 | Chr.17:7244585 - 7333855 on Build GRCh38 | Deletion | ELP5 GPS2 CLDN7 CTDNEP1 SLC2A4 NEURL4 YBX2 EIF5A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |