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 Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ELP5 | NM_015362.4 | NP_056177.3 | ||
NM_203413.2 | 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 | |||
AF070658.1 | AAD20964.1 | |||
AF087868.1 | AAM10496.1 | |||
AF163262.1 | AAQ13591.1 | |||
AK225983.1 | ||||
AK289940.1 | ||||
BC002762.2 | AAH02762.2 | |||
BE743557.1 | ||||
BI916017.1 | ||||
BP230198.1 | ||||
BQ648358.1 |
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 | SENP3 YBX2 FXR2 DVL2 TEKT1 CLDN7 EIF4A1 FGF11 DLG4 RNASEK TNFSF12-TNFSF13 SHBG ATP1B2 CTDNEP1 PLSCR3 ACAP1 CD68 MIR195 ZBTB4 C17orf49 TMEM95 TNK1 GPS2 BCL6B ASGR2 C17orf74 GABARAP SNORD10 TMEM102 POLR2A CHRNB1 NLGN2 CLEC10A ALOX12P2 SLC35G6 ELP5 LOC100996842 PHF23 TMEM256-PLSCR3 MIR497 RNASEK-C17orf49 SPEM1 MPDU1 NEURL4 EIF5A ASGR1 TMEM256 SNORA48 KCTD11 LOC107983988 SENP3-EIF4A1 SLC2A4 ACADVL FBXO39 MIR497HG TNFSF13 SNORA67 SOX15 ALOX12-AS1 SLC16A11 SAT2 SLC16A13 MIR324 TNFSF12 ALOX12 |
esv3639861 | Chr.17:7198042 - 7261345 on Build GRCh38 | Loss | PHF23 DVL2 CTDNEP1 GABARAP ACADVL CLDN7 MIR324 DLG4 ELP5 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | YBX2 C17orf74 GABARAP TMEM102 CHRNB1 NLGN2 ELP5 PHF23 DVL2 TMEM256-PLSCR3 SPEM1 CLDN7 NEURL4 EIF5A ASGR1 FGF11 DLG4 TMEM256 KCTD11 LOC107983988 CTDNEP1 SLC2A4 PLSCR3 ACADVL ACAP1 MIR324 TMEM95 TNK1 GPS2 |
esv2665200 | Chr.17:7091816 - 7333062 on Build GRCh38 | Deletion | ASGR2 YBX2 CTDNEP1 GABARAP SLC2A4 ACADVL ELP5 PHF23 DVL2 CLDN7 MIR324 NEURL4 EIF5A ASGR1 GPS2 DLG4 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | SENP3 YBX2 FXR2 DVL2 CLDN7 EIF4A1 FGF11 DLG4 RNASEK TNFSF12-TNFSF13 SHBG ATP1B2 CTDNEP1 PLSCR3 ACAP1 CD68 MIR195 ZBTB4 C17orf49 TMEM95 TNK1 GPS2 BCL6B ASGR2 C17orf74 WRAP53 GABARAP SNORD10 TMEM102 POLR2A CHRNB1 NLGN2 CLEC10A SLC35G6 ELP5 LOC100996842 PHF23 TMEM256-PLSCR3 MIR497 RNASEK-C17orf49 SPEM1 MPDU1 NEURL4 TP53 EIF5A ASGR1 TMEM256 SNORA48 KCTD11 LOC107983988 SENP3-EIF4A1 SLC2A4 ACADVL MIR497HG TNFSF13 SNORA67 SOX15 ALOX12-AS1 SLC16A11 SAT2 SLC16A13 MIR324 TNFSF12 ALOX12 |
nsv1963 | Chr.17:7244585 - 7333855 on Build GRCh38 | Deletion | YBX2 CTDNEP1 SLC2A4 CLDN7 NEURL4 EIF5A GPS2 ELP5 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |