| Tbio | Bifunctional polynucleotide phosphatase/kinase |
Plays a key role in the repair of DNA damage, functioning as part of both the non-homologous end-joining (NHEJ) and base excision repair (BER) pathways. Through its two catalytic activities, PNK ensures that DNA termini are compatible with extension and ligation by either removing 3'-phosphates from, or by phosphorylating 5'-hydroxyl groups on, the ribose sugar of the DNA backbone.
This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010]
This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Microcephaly | 166 | 4.695 | 2.3 |
| ATAXIA-OCULOMOTOR APRAXIA 4 | 1 | 0.0 | 0.0 |
| DNA Repair-Deficiency Disorders | 1 | 0.0 | 0.0 |
| Developmental Disabilities | 23 | 0.0 | 0.0 |
| MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY | 1 | 0.0 | 0.0 |
| Seizures | 596 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| tuberculosis | 2010 | 2.0e-08 |
| psoriasis | 6694 | 1.3e-05 |
| ovarian cancer | 8520 | 5.6e-05 |
| osteosarcoma | 7950 | 9.9e-04 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Intellectual disability | 1016 | 0.0 | 4.0 |
| Neurodegenerative disease | 414 | 0.0 | 4.0 |
| Disease | log2 FC | p |
|---|---|---|
| osteosarcoma | -1.381 | 9.9e-04 |
| ovarian cancer | 1.800 | 5.6e-05 |
| psoriasis | 2.100 | 1.3e-05 |
| tuberculosis | 1.500 | 2.0e-08 |
MGEVEAPGRLWLESPPGGAPPIFLPSDGQALVLGRGPLTQVTDRKCSRTQVELVADPETRTVAVKQLGVN 1 - 70 PSTTGTQELKPGLEGSLGVGDTLYLVNGLHPLTLRWEETRTPESQPDTPPGTPLVSQDEKRDAELPKKRM 71 - 140 RKSNPGWENLEKLLVFTAAGVKPQGKVAGFDLDGTLITTRSGKVFPTGPSDWRILYPEIPRKLRELEAEG 141 - 210 YKLVIFTNQMSIGRGKLPAEEFKAKVEAVVEKLGVPFQVLVATHAGLYRKPVTGMWDHLQEQANDGTPIS 211 - 280 IGDSIFVGDAAGRPANWAPGRKKKDFSCADRLFALNLGLPFATPEEFFLKWPAAGFELPAFDPRTVSRSG 281 - 350 PLCLPESRALLSASPEVVVAVGFPGAGKSTFLKKHLVSAGYVHVNRDTLGSWQRCVTTCETALKQGKRVA 351 - 420 IDNTNPDAASRARYVQCARAAGVPCRCFLFTATLEQARHNNRFREMTDSSHIPVSDMVMYGYRKQFEAPT 421 - 490 LAEGFSAILEIPFRLWVEPRLGRLYCQFSEG 491 - 521 //
