Assay Details
Target Gene Details
Entrez Gene ID: | 2027 |
Gene Name: | enolase 3 |
Gene Aliases: |
GSD13, MSE |
Location: |
Chr.17:4949182-4957131 on Build GRCh38 |
Assay Gene Location: | Within Exon 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ENO3 | NM_001193503.1 | 6 | 689 | NP_001180432.1 |
NM_001976.4 | 8 | 860 | NP_001967.3 | |
NM_053013.3 | 8 | 818 | NP_443739.3 | |
XM_005256521.2 | 8 | 1246 | XP_005256578.1 | |
XM_011523729.1 | 8 | 836 | XP_011522031.1 | |
XM_017024346.1 | 8 | 1253 | XP_016879835.1 | |
AK300662.1 | 8 | 704 | ||
AK300673.1 | 7 | 680 | ||
AK300709.1 | 6 | 659 | ||
AK309864.1 | 9 | 911 | ||
BC017249.2 | 8 | 775 | AAH17249.1 | |
X16504.1 | 7 | 722 | CAA34513.1 | |
X51957.1 | 7 | 734 | CAA36216.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833350 | Chr.17:4884713 - 5060776 on Build GRCh38 | Loss | SPAG7 MIR6865 SLC25A11 LOC101927979 RNF167 INCA1 PFN1 CHRNE MINK1 KIF1C ENO3 C17orf107 SLC52A1 CAMTA2 LOC102724009 GP1BA MIR6864 |
nsv833349 | Chr.17:4853631 - 4991300 on Build GRCh38 | Loss | SPAG7 MIR6865 SLC25A11 LOC101927979 RNF167 INCA1 PFN1 CHRNE MINK1 ENO3 C17orf107 CAMTA2 GP1BA MIR6864 |
nsv833347 | Chr.17:4785297 - 4955981 on Build GRCh38 | Loss | PLD2 SLC25A11 RNF167 PFN1 GLTPD2 CHRNE MINK1 ENO3 C17orf107 PSMB6 VMO1 LOC107984973 GP1BA |
nsv574273 | Chr.17:4585589 - 5460332 on Build GRCh38 | Gain | PLD2 LOC101927979 INCA1 ZMYND15 MED11 PFN1 LOC101928000 CHRNE MINK1 TM4SF5 ENO3 C17orf107 SLC52A1 PSMB6 VMO1 CAMTA2 LOC400568 SCIMP RABEP1 MIR6864 SPAG7 MIR6865 NUP88 SLC25A11 RNF167 LOC101559451 LOC100130950 GLTPD2 CXCL16 ALOX15 KIF1C ZFP3 RPAIN DHX33 ZNF232 USP6 LOC107984973 SMTNL2 LOC102724009 ZNF594 C1QBP GP1BA PELP1 ARRB2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |