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 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ESPL1 | NM_012291.4 | 3 | 264 | NP_036423.4 |
XM_006719705.3 | 3 | 331 | XP_006719768.1 | |
XM_011539024.2 | 3 | 292 | XP_011537326.1 | |
XM_011539025.2 | 3 | 303 | XP_011537327.1 | |
XM_017020253.1 | 3 | 382 | XP_016875742.1 | |
AY455930.1 | 2 | 173 | AAR18247.1 | |
BP244662.1 | 3 | 264 | ||
D79987.1 | 3 | 311 | 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 | RARG ITGB7 ZNF740 SOAT2 MFSD5 CSAD ESPL1 |
nsv517066 | Chr.12:53006394 - 53340722 on Build GRCh38 | Loss | SP7 TNS2 ZNF740 SOAT2 CSAD ESPL1 MIR6757 C12orf10 RARG ITGB7 EIF4B PFDN5 IGFBP6 AAAS MFSD5 SPRYD3 LOC283335 |
nsv558996 | Chr.12:53211761 - 53289202 on Build GRCh38 | Loss | RARG MFSD5 ESPL1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |