| Tbio | Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial |
May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure.
This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]
This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 | 1 | 0.0 | 0.0 |
| MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT | 1 | 0.0 | 0.0 |
| SPINAL MUSCULAR ATROPHY, JOKELA TYPE | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| glioblastoma | 5792 | 4.4e-06 |
| ovarian cancer | 8520 | 7.9e-06 |
| cystic fibrosis | 1696 | 9.6e-06 |
| group 3 medulloblastoma | 4104 | 5.4e-05 |
| interstitial cystitis | 2312 | 1.3e-04 |
| adult high grade glioma | 3801 | 8.1e-04 |
| pancreatic ductal adenocarcinoma liver metastasis | 1962 | 1.8e-03 |
| astrocytic glioma | 2597 | 2.9e-03 |
| Rheumatoid arthritis | 1191 | 1.5e-02 |
| ependymoma | 4679 | 3.0e-02 |
| atypical teratoid / rhabdoid tumor | 5112 | 4.1e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Neurodegenerative disease | 414 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Frontotemporal dementia | 51 | 5.078 | 2.5 |
| Mitochondrial myopathy | 26 | 3.48 | 1.7 |
| Disease | Target Count |
|---|---|
| Amyotrophic lateral sclerosis | 451 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | -1.300 | 8.1e-04 |
| astrocytic glioma | -1.500 | 2.9e-03 |
| atypical teratoid / rhabdoid tumor | -1.100 | 4.1e-02 |
| cystic fibrosis | -1.472 | 9.6e-06 |
| ependymoma | -1.800 | 3.0e-02 |
| glioblastoma | -1.200 | 4.4e-06 |
| group 3 medulloblastoma | -1.900 | 5.4e-05 |
| interstitial cystitis | -1.200 | 1.3e-04 |
| ovarian cancer | 2.100 | 7.9e-06 |
| pancreatic ductal adenocarcinoma liver m... | -2.083 | 1.8e-03 |
| Rheumatoid arthritis | -1.400 | 1.5e-02 |
