| Tbio | EF-hand domain-containing protein 1 |
Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581).
This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Epilepsy, Absence | 8 | 0.0 | 0.0 |
| Myoclonic Epilepsy, Juvenile | 7 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Absence Epilepsy | 22 |
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8520 | 5.8e-08 |
| group 3 medulloblastoma | 4104 | 3.6e-06 |
| Astrocytoma, Pilocytic | 3081 | 3.9e-06 |
| non-small cell lung cancer | 2890 | 3.9e-06 |
| tuberculosis and treatment for 6 months | 409 | 7.0e-05 |
| psoriasis | 6694 | 1.7e-04 |
| intraductal papillary-mucinous adenoma (IPMA) | 2955 | 5.5e-04 |
| Pick disease | 1894 | 5.9e-04 |
| cutaneous lupus erythematosus | 1057 | 8.0e-04 |
| osteosarcoma | 7950 | 1.1e-03 |
| astrocytic glioma | 2597 | 1.3e-03 |
| glioblastoma | 5792 | 1.5e-03 |
| nasopharyngeal carcinoma | 1058 | 2.7e-03 |
| adult high grade glioma | 3801 | 2.9e-03 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2989 | 1.2e-02 |
| oligodendroglioma | 2850 | 1.3e-02 |
| atypical teratoid / rhabdoid tumor | 5112 | 1.4e-02 |
| chronic rhinosinusitis | 512 | 2.2e-02 |
| ependymoma | 4679 | 3.2e-02 |
| primitive neuroectodermal tumor | 3035 | 4.5e-02 |
| lung cancer | 4740 | 4.9e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Juvenile myoclonic epilepsy | 21 | 0.0 | 5.0 |
| Disease | Target Count |
|---|---|
| Epilepsy, Juvenile Absence, Susceptibility To, 1 | 2 |
| Epilepsy, Myoclonic Juvenile | 6 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | 1.300 | 2.9e-03 |
| astrocytic glioma | 2.900 | 1.3e-03 |
| Astrocytoma, Pilocytic | 1.200 | 3.9e-06 |
| atypical teratoid / rhabdoid tumor | 1.100 | 1.4e-02 |
| chronic rhinosinusitis | -1.633 | 2.2e-02 |
| cutaneous lupus erythematosus | -1.300 | 8.0e-04 |
| ependymoma | 3.000 | 3.2e-02 |
| glioblastoma | 2.000 | 1.5e-03 |
| group 3 medulloblastoma | 2.100 | 3.6e-06 |
| intraductal papillary-mucinous adenoma (... | 1.500 | 5.5e-04 |
| intraductal papillary-mucinous carcinoma... | 1.300 | 1.2e-02 |
| lung cancer | 1.100 | 4.9e-02 |
| nasopharyngeal carcinoma | -1.600 | 2.7e-03 |
| non-small cell lung cancer | -1.027 | 3.9e-06 |
| oligodendroglioma | 2.700 | 1.3e-02 |
| osteosarcoma | 2.028 | 1.1e-03 |
| ovarian cancer | -2.500 | 5.8e-08 |
| Pick disease | 1.200 | 5.9e-04 |
| primitive neuroectodermal tumor | 1.100 | 4.5e-02 |
| psoriasis | -1.100 | 1.7e-04 |
| tuberculosis and treatment for 6 months | 1.200 | 7.0e-05 |
MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQAELDELASKAP 1 - 70 VLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVEN 71 - 140 SGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIELNPPEKMALD 141 - 210 PYTELRKQPLRKYVTPSDFDQLKQFLTFDKQVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHE 211 - 280 RNDGRDPFPLLMNRQRVPKVLVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPF 281 - 350 TRRYYKEKFGITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVL 351 - 420 RYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDF 421 - 490 FIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREAPAPEAESKQTEKDPGVQELE 491 - 560 ALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFFKICESLNVPVDDSLVKELIRMCSHGEGKIN 561 - 630 YYNFVRAFSN 631 - 640 //
