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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ESPL1 | NM_012291.4 | NP_036423.4 | ||
XM_006719705.3 | XP_006719768.1 | |||
XM_011539024.2 | XP_011537326.1 | |||
XM_011539025.2 | XP_011537327.1 | |||
XM_017020253.1 | 2 | 180 | XP_016875742.1 | |
AY455930.1 | AAR18247.1 | |||
BP244662.1 | ||||
D79987.1 | 2 | 109 | BAA11482.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv558994 | Chr.12:53103618 - 53277765 on Build GRCh38 | Loss | MFSD5 ITGB7 CSAD ZNF740 SOAT2 ESPL1 RARG |
nsv517066 | Chr.12:53006394 - 53340722 on Build GRCh38 | Loss | MFSD5 AAAS CSAD SPRYD3 C12orf10 PFDN5 EIF4B ZNF740 LOC283335 SOAT2 IGFBP6 ESPL1 RARG MIR6757 TNS2 ITGB7 SP7 |
nsv558996 | Chr.12:53211761 - 53289202 on Build GRCh38 | Loss | MFSD5 ESPL1 RARG |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |