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: | Overlaps Intron 3 - Exon 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 |
---|---|---|---|
esv2422288 | Chr.17:6789933 - 7646709 on Build GRCh38 | Deletion | YBX2 SAT2 NEURL4 MPDU1 FXR2 SHBG CD68 ASGR2 DVL2 MIR497 GABARAP C17orf74 POLR2A SLC16A13 SLC2A4 ALOX12 TEKT1 MIR195 SPEM1 ACAP1 SENP3 ALOX12-AS1 DLG4 C17orf49 GPS2 RNASEK-C17orf49 MIR324 SNORD10 RNASEK KCTD11 PHF23 BCL6B MIR497HG ELP5 EIF4A1 FBXO39 ZBTB4 SLC16A11 TMEM256-PLSCR3 ASGR1 TMEM256 LOC100996842 ACADVL FGF11 ATP1B2 SNORA67 SNORA48 SOX15 CHRNB1 CTDNEP1 TNFSF13 SENP3-EIF4A1 ALOX12P2 SLC35G6 CLDN7 TNK1 TNFSF12-TNFSF13 CLEC10A EIF5A NLGN2 TMEM95 LOC107983988 TMEM102 PLSCR3 TNFSF12 |
esv3639861 | Chr.17:7198042 - 7261345 on Build GRCh38 | Loss | PHF23 DLG4 DVL2 CLDN7 CTDNEP1 GABARAP ACADVL ELP5 MIR324 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | YBX2 PHF23 NEURL4 ELP5 TMEM256-PLSCR3 ASGR1 TMEM256 DVL2 GABARAP C17orf74 ACADVL FGF11 SLC2A4 CHRNB1 CTDNEP1 SPEM1 ACAP1 DLG4 CLDN7 TNK1 EIF5A NLGN2 TMEM95 GPS2 MIR324 LOC107983988 TMEM102 PLSCR3 KCTD11 |
esv2665200 | Chr.17:7091816 - 7333062 on Build GRCh38 | Deletion | YBX2 PHF23 NEURL4 CTDNEP1 ELP5 ASGR1 ASGR2 DLG4 DVL2 CLDN7 GABARAP EIF5A ACADVL GPS2 MIR324 SLC2A4 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | YBX2 SAT2 NEURL4 MPDU1 FXR2 SHBG CD68 ASGR2 WRAP53 DVL2 MIR497 GABARAP C17orf74 POLR2A SLC16A13 SLC2A4 ALOX12 MIR195 SPEM1 ACAP1 SENP3 ALOX12-AS1 DLG4 C17orf49 GPS2 RNASEK-C17orf49 MIR324 SNORD10 RNASEK KCTD11 PHF23 BCL6B MIR497HG ELP5 EIF4A1 ZBTB4 SLC16A11 TMEM256-PLSCR3 TP53 ASGR1 TMEM256 LOC100996842 ACADVL FGF11 ATP1B2 SNORA67 SNORA48 SOX15 CHRNB1 CTDNEP1 TNFSF13 SENP3-EIF4A1 SLC35G6 CLDN7 TNK1 TNFSF12-TNFSF13 CLEC10A EIF5A NLGN2 TMEM95 LOC107983988 TMEM102 PLSCR3 TNFSF12 |
nsv1963 | Chr.17:7244585 - 7333855 on Build GRCh38 | Deletion | YBX2 CLDN7 NEURL4 CTDNEP1 EIF5A ELP5 GPS2 SLC2A4 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |