Assay Details
Target Gene Details
Entrez Gene ID: | 157570 |
Gene Name: | establishment of sister chromatid cohesion N-acetyltransferase 2 |
Gene Aliases: |
2410004I17Rik, EFO2, RBS |
Location: |
Chr.8:27771949-27812404 on Build GRCh38 |
Assay Gene Location: |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ESCO2 | BC034641.1 | AAH34641.1 |
Target Gene Details
Entrez Gene ID: | 55872 |
Gene Name: | PDZ binding kinase |
Gene Aliases: |
CT84, HEL164, Nori-3, SPK, TOPK |
Location: |
Chr.8:27809621-27838095 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PBK | NM_001278945.1 | 8 | 1895 | NP_001265874.1 |
NM_018492.3 | 8 | 1920 | NP_060962.2 | |
XM_006716368.2 | 8 | 1844 | XP_006716431.1 | |
AF237709.1 | 8 | 1634 | AAF71521.1 | |
AK027291.1 | 8 | 1625 | BAB55019.1 | |
BC015191.1 | 8 | 1634 | AAH15191.1 | |
EU794685.1 | 8 | 1657 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv524133 | Chr.8:27776547 - 27858791 on Build GRCh38 | Loss | PBK ESCO2 |
nsv1030500 | Chr.8:27806175 - 27821659 on Build GRCh38 | Loss | PBK ESCO2 |
dgv7153n100 | Chr.8:27780880 - 27831551 on Build GRCh38 | Loss | PBK ESCO2 |
nsv519636 | Chr.8:27778100 - 27831788 on Build GRCh38 | Gain | PBK ESCO2 |
nsv1017032 | Chr.8:27767011 - 27821659 on Build GRCh38 | Loss | CCDC25 PBK ESCO2 |
dgv7154n100 | Chr.8:27806404 - 27831551 on Build GRCh38 | Loss | PBK ESCO2 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |