Assay Details
Target Gene Details
Entrez Gene ID: | 9700 |
Gene Name: | extra spindle pole bodies like 1, separase |
Gene Aliases: |
ESP1, SEPA |
Location: |
Chr.12:53268257-53293643 on Build GRCh38 |
Assay Gene Location: | Within Exon 19 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ESPL1 | NM_012291.4 | 18 | 3650 | NP_036423.4 |
XM_006719705.3 | 18 | 3717 | XP_006719768.1 | |
XM_011539024.2 | 18 | 3678 | XP_011537326.1 | |
XM_011539025.2 | 18 | 3689 | XP_011537327.1 | |
XM_017020253.1 | 18 | 3768 | XP_016875742.1 | |
AK299423.1 | ||||
AK316135.1 | ||||
AY455930.1 | 17 | 3559 | AAR18247.1 | |
D79987.1 | 18 | 3697 | BAA11482.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv517066 | Chr.12:53006394 - 53340722 on Build GRCh38 | Loss | AAAS MIR6757 TNS2 PFDN5 IGFBP6 MFSD5 EIF4B ITGB7 SOAT2 SP7 ZNF740 CSAD ESPL1 LOC283335 SPRYD3 C12orf10 RARG |
nsv558996 | Chr.12:53211761 - 53289202 on Build GRCh38 | Loss | MFSD5 ESPL1 RARG |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |