Assay Details
Target Gene Details
Entrez Gene ID: | 5210 |
Gene Name: | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 |
Gene Aliases: |
- |
Location: |
Chr.3:48517684-48562383 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PFKFB4 | XM_011533829.2 | 1 | 365 | XP_011532131.1 |
Target Gene Details
Entrez Gene ID: | 90226 |
Gene Name: | urocortin 2 |
Gene Aliases: |
SRP, UCN-II, UCNI, UR, URP |
Location: |
Chr.3:48561718-48563768 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
UCN2 | NM_033199.3 | 2 | 1184 | NP_149976.1 |
BC002647.2 | 2 | 1184 | AAH02647.2 | |
BC022096.1 | 2 | 1184 | AAH22096.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv954484 | Chr.3:48533268 - 48609567 on Build GRCh38 | Deletion | UQCRC1 COL7A1 SNORA94 MIR6823 PFKFB4 MIR711 UCN2 |
nsv1004383 | Chr.3:48506361 - 48612339 on Build GRCh38 | Loss | UQCRC1 COL7A1 SNORA94 MIR6823 PFKFB4 MIR711 UCN2 |
nsv3811 | Chr.3:48561747 - 48606376 on Build GRCh38 | Deletion | UQCRC1 COL7A1 SNORA94 PFKFB4 MIR711 UCN2 |
nsv834685 | Chr.3:48527576 - 48708341 on Build GRCh38 | Loss | UQCRC1 SNORA94 MIR6823 MIR6824 CELSR3 MIR4793 NCKIPSD CELSR3-AS1 UCN2 SLC26A6 COL7A1 TMEM89 IP6K2 PFKFB4 MIR711 |
nsv523981 | Chr.3:48478880 - 48683607 on Build GRCh38 | Loss | UQCRC1 SNORA94 MIR6823 MIR6824 CELSR3 MIR4793 NCKIPSD SHISA5 CELSR3-AS1 UCN2 SLC26A6 COL7A1 TMEM89 PFKFB4 MIR711 |
esv2725247 | Chr.3:48561192 - 48562010 on Build GRCh38 | Deletion | PFKFB4 UCN2 |
nsv1152618 | Chr.3:48558266 - 48563067 on Build GRCh38 | Duplication | PFKFB4 UCN2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |