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 19 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PFKFB4 | NM_001317134.1 | 15 | 1890 | NP_001304063.1 |
NM_001317135.1 | 14 | 1721 | NP_001304064.1 | |
NM_001317136.1 | 14 | 1628 | NP_001304065.1 | |
NM_001317137.1 | 13 | 1637 | NP_001304066.1 | |
NM_001317138.1 | 15 | 1870 | NP_001304067.1 | |
NM_004567.3 | 14 | 1742 | NP_004558.1 | |
XM_011533829.2 | 14 | 2296 | XP_011532131.1 | |
XM_017006614.1 | 15 | 1925 | XP_016862103.1 | |
XM_017006615.1 | 14 | 1675 | XP_016862104.1 | |
XM_017006616.1 | 14 | 1588 | XP_016862105.1 | |
XM_017006617.1 | 14 | 1824 | XP_016862106.1 | |
AF108765.1 | 14 | 1618 | AAD09427.1 | |
AK298732.1 | 14 | 1577 | ||
BC010269.1 | 14 | 1613 | AAH10269.1 | |
D49818.1 | 14 | 1622 | BAA18921.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1004383 | Chr.3:48506361 - 48612339 on Build GRCh38 | Loss | MIR711 COL7A1 MIR6823 PFKFB4 SNORA94 UCN2 UQCRC1 |
nsv834684 | Chr.3:48344209 - 48551890 on Build GRCh38 | Gain | FBXW12 MIR6823 CCDC51 SHISA5 PFKFB4 TREX1 TMA7 ATRIP PLXNB1 |
nsv523981 | Chr.3:48478880 - 48683607 on Build GRCh38 | Loss | CELSR3 MIR711 MIR6823 TMEM89 SHISA5 PFKFB4 SLC26A6 SNORA94 CELSR3-AS1 MIR4793 UCN2 UQCRC1 MIR6824 COL7A1 NCKIPSD |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |