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 | 1334 | 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 | 1053 | AAQ13591.1 | |
AK225983.1 | ||||
AL713741.1 | 2 | 678 | CAH56280.1 | |
BC002762.2 | AAH02762.2 | |||
BF921423.1 | 1 | 438 | ||
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 | TMEM256-PLSCR3 SLC16A13 SLC16A11 LOC107983988 LOC100996842 MIR497 ACAP1 NLGN2 C17orf74 CHRNB1 TNK1 EIF5A ASGR1 RNASEK PLSCR3 ALOX12 CLEC10A TMEM256 KCTD11 EIF4A1 DLG4 DVL2 CD68 RNASEK-C17orf49 BCL6B ASGR2 MIR497HG SNORD10 CLDN7 PHF23 C17orf49 SNORA67 TNFSF13 FXR2 FBXO39 NEURL4 GABARAP ATP1B2 SLC35G6 TNFSF12-TNFSF13 TNFSF12 MIR324 POLR2A SENP3 MPDU1 ACADVL SLC2A4 FGF11 TMEM95 GPS2 TEKT1 SAT2 CTDNEP1 SENP3-EIF4A1 ELP5 ALOX12-AS1 TMEM102 SHBG ZBTB4 SPEM1 SNORA48 SOX15 YBX2 MIR195 ALOX12P2 |
esv3639861 | Chr.17:7198042 - 7261345 on Build GRCh38 | Loss | CTDNEP1 GABARAP DLG4 ACADVL ELP5 DVL2 CLDN7 PHF23 MIR324 |
nsv952118 | Chr.17:7174582 - 7456981 on Build GRCh38 | Deletion | TMEM256-PLSCR3 NEURL4 GABARAP LOC107983988 ACAP1 NLGN2 C17orf74 MIR324 CHRNB1 TNK1 EIF5A ACADVL ASGR1 PLSCR3 SLC2A4 FGF11 TMEM95 GPS2 TMEM256 KCTD11 CTDNEP1 DLG4 ELP5 DVL2 TMEM102 SPEM1 CLDN7 PHF23 YBX2 |
esv2665200 | Chr.17:7091816 - 7333062 on Build GRCh38 | Deletion | NEURL4 CTDNEP1 GABARAP DLG4 ELP5 DVL2 MIR324 ASGR2 EIF5A ACADVL ASGR1 SLC2A4 CLDN7 PHF23 YBX2 GPS2 |
nsv574322 | Chr.17:7010333 - 7689462 on Build GRCh38 | Loss | TMEM256-PLSCR3 SLC16A13 TP53 SLC16A11 LOC107983988 LOC100996842 MIR497 ACAP1 NLGN2 C17orf74 CHRNB1 TNK1 EIF5A ASGR1 RNASEK PLSCR3 WRAP53 ALOX12 CLEC10A TMEM256 KCTD11 EIF4A1 DLG4 DVL2 CD68 RNASEK-C17orf49 BCL6B ASGR2 MIR497HG SNORD10 CLDN7 PHF23 C17orf49 SNORA67 TNFSF13 FXR2 NEURL4 GABARAP ATP1B2 SLC35G6 TNFSF12-TNFSF13 TNFSF12 MIR324 POLR2A SENP3 MPDU1 ACADVL SLC2A4 FGF11 TMEM95 GPS2 SAT2 CTDNEP1 SENP3-EIF4A1 ELP5 ALOX12-AS1 TMEM102 SHBG ZBTB4 SPEM1 SNORA48 SOX15 YBX2 MIR195 |
nsv1963 | Chr.17:7244585 - 7333855 on Build GRCh38 | Deletion | NEURL4 CTDNEP1 ELP5 SLC2A4 CLDN7 YBX2 GPS2 EIF5A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |