| Disease ID | Disease name | Source of annotation with EXOSC3 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS607596 | PONTOCEREBELLAR HYPOPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 13 | AMPD2, EXOSC3, CLP1, SEPSECS, TSEN34, TSEN2, PCLO, VPS53, TSEN54, KCNT1, RARS2, VRK1, CHMP1A |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| RNA degradation | hsa03018 | 6.48 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| PERK regulates gene expression | R-HSA-381042 | 8.18 |
| Unfolded Protein Response (UPR) | R-HSA-381119 | 6.56 |
| Gene Expression | R-HSA-74160 | 2.72 |
| mRNA decay by 3' to 5' exoribonuclease | R-HSA-429958 | 9.52 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| ATF4 activates genes | R-HSA-380994 | 8.34 |
| Tristetraprolin (TTP) destabilizes mRNA | R-HSA-450513 | 8.89 |
| Butyrate Response Factor 1 (BRF1) destabilizes mRNA | R-HSA-450385 | 8.89 |
| KSRP destabilizes mRNA | R-HSA-450604 | 8.89 |
| Regulation of mRNA stability by proteins that bind AU-rich elements | R-HSA-450531 | 6.56 |
| Deadenylation-dependent mRNA decay | R-HSA-429914 | 7.37 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| 3'-5' exonuclease activity | GO:0008408 | 5.83 |
| exonuclease activity, active with either ribo- or deoxyribonucleic acids and producing 5'-phosphomonoesters | GO:0016796 | 5.89 |
| protein binding | GO:0005515 | 0.46 |
| nuclease activity | GO:0004518 | 4.33 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| exonuclease activity | GO:0004527 | 5.33 |
| ribonuclease activity | GO:0004540 | 5.04 |
| exoribonuclease activity | GO:0004532 | 6.21 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| 3'-5'-exoribonuclease activity | GO:0000175 | 6.41 |
| catalytic activity | GO:0003824 | 1.05 |
| exoribonuclease activity, producing 5'-phosphomonoesters | GO:0016896 | 6.37 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| RNA binding | GO:0003723 | 2.36 |