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 | 1000 | 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 | 719 | AAQ13591.1 | |
AK225983.1 | ||||
AK289940.1 | 6 | 1003 | ||
AL713741.1 | 2 | 344 | CAH56280.1 | |
BC002762.2 | AAH02762.2 | |||
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 | TEKT1 SOX15 NEURL4 SNORA67 LOC100996842 GPS2 SNORD10 TMEM102 EIF4A1 TNFSF13 ACADVL SHBG BCL6B CLDN7 RNASEK ELP5 ALOX12P2 SENP3 GABARAP DLG4 C17orf49 SLC16A11 SAT2 MIR324 PLSCR3 TNFSF12 SENP3-EIF4A1 CHRNB1 PHF23 MIR497 TNK1 ALOX12-AS1 YBX2 ATP1B2 TMEM256 MIR497HG ASGR2 EIF5A ALOX12 TMEM256-PLSCR3 FXR2 SLC35G6 MIR195 SLC2A4 CD68 RNASEK-C17orf49 FBXO39 MPDU1 FGF11 POLR2A SNORA48 SLC16A13 C17orf74 LOC107983988 NLGN2 ACAP1 DVL2 KCTD11 SPEM1 TMEM95 ASGR1 CTDNEP1 TNFSF12-TNFSF13 ZBTB4 CLEC10A |
esv3639861 | Chr.17:7198042 - 7261345 on Build GRCh38 | Loss | DVL2 ACADVL MIR324 CLDN7 ELP5 CTDNEP1 GABARAP DLG4 PHF23 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | TNK1 NEURL4 YBX2 TMEM256 GPS2 EIF5A TMEM102 TMEM256-PLSCR3 SLC2A4 ACADVL FGF11 CLDN7 ELP5 C17orf74 GABARAP DLG4 LOC107983988 NLGN2 ACAP1 DVL2 MIR324 KCTD11 PLSCR3 SPEM1 TMEM95 ASGR1 CTDNEP1 CHRNB1 PHF23 |
esv2665200 | Chr.17:7091816 - 7333062 on Build GRCh38 | Deletion | SLC2A4 ACADVL CLDN7 ELP5 NEURL4 GABARAP DLG4 YBX2 ASGR2 DVL2 MIR324 GPS2 EIF5A ASGR1 CTDNEP1 PHF23 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | TP53 SOX15 NEURL4 SNORA67 LOC100996842 GPS2 SNORD10 TMEM102 EIF4A1 TNFSF13 ACADVL SHBG BCL6B CLDN7 RNASEK ELP5 SENP3 GABARAP DLG4 C17orf49 SLC16A11 SAT2 MIR324 PLSCR3 TNFSF12 SENP3-EIF4A1 CHRNB1 PHF23 MIR497 TNK1 ALOX12-AS1 YBX2 ATP1B2 TMEM256 MIR497HG ASGR2 WRAP53 EIF5A ALOX12 TMEM256-PLSCR3 FXR2 SLC35G6 MIR195 SLC2A4 CD68 RNASEK-C17orf49 MPDU1 FGF11 POLR2A SNORA48 SLC16A13 C17orf74 LOC107983988 NLGN2 ACAP1 DVL2 KCTD11 SPEM1 TMEM95 ASGR1 CTDNEP1 TNFSF12-TNFSF13 ZBTB4 CLEC10A |
nsv1963 | Chr.17:7244585 - 7333855 on Build GRCh38 | Deletion | SLC2A4 GPS2 CLDN7 ELP5 EIF5A NEURL4 CTDNEP1 YBX2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |