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 | 3590 | NP_001304063.1 |
NM_001317135.1 | 14 | 3421 | NP_001304064.1 | |
NM_001317136.1 | 14 | 3328 | NP_001304065.1 | |
NM_001317137.1 | 13 | 3337 | NP_001304066.1 | |
NM_001317138.1 | 15 | 3570 | NP_001304067.1 | |
NM_004567.3 | 14 | 3442 | NP_004558.1 | |
XM_011533829.2 | 14 | 3996 | XP_011532131.1 | |
XM_017006614.1 | 15 | 3625 | XP_016862103.1 | |
XM_017006615.1 | 14 | 3375 | XP_016862104.1 | |
XM_017006616.1 | 14 | 3288 | XP_016862105.1 | |
XM_017006617.1 | 14 | 3524 | XP_016862106.1 | |
BC010269.1 | 14 | 3313 | AAH10269.1 |
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 | UQCRC1 COL7A1 MIR711 MIR6823 SNORA94 UCN2 PFKFB4 |
nsv834684 | Chr.3:48344209 - 48551890 on Build GRCh38 | Gain | CCDC51 PLXNB1 ATRIP TREX1 MIR6823 FBXW12 TMA7 SHISA5 PFKFB4 |
nsv523981 | Chr.3:48478880 - 48683607 on Build GRCh38 | Loss | UQCRC1 COL7A1 CELSR3-AS1 MIR711 SLC26A6 SNORA94 MIR6824 MIR4793 MIR6823 SHISA5 TMEM89 UCN2 NCKIPSD PFKFB4 CELSR3 |
nsv590242 | Chr.3:48392157 - 48518906 on Build GRCh38 | Loss | CCDC51 PLXNB1 ATRIP TREX1 FBXW12 TMA7 SHISA5 PFKFB4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |