| Tbio | Dynein assembly factor 4, axonemal |
Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity.
This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]
This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]
Comments
| Disease | Target Count |
|---|---|
| Ciliary Motility Disorders | 38 |
| Male infertility | 206 |
| Disease | Target Count | P-value |
|---|---|---|
| ependymoma | 4679 | 2.6e-20 |
| group 3 medulloblastoma | 4104 | 9.2e-07 |
| Astrocytoma, Pilocytic | 3081 | 9.6e-07 |
| glioblastoma | 5792 | 2.4e-06 |
| atypical teratoid / rhabdoid tumor | 5112 | 1.6e-04 |
| nasopharyngeal carcinoma | 1058 | 6.2e-04 |
| primitive neuroectodermal tumor | 3035 | 1.6e-03 |
| adult high grade glioma | 3801 | 1.9e-03 |
| active Crohn's disease | 922 | 4.1e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Situs Inversus | 65 | 3.706 | 1.9 |
| Specific language impairment | 34 | 3.628 | 1.8 |
| Amyotrophic lateral sclerosis type 5 | 13 | 3.293 | 1.6 |
| Autosomal dominant limb-girdle muscular dystrophy type 1B | 2 | 3.131 | 1.6 |
| Disease | Target Count |
|---|---|
| Primary ciliary dyskinesia | 76 |
| Dyslexia 1 | 1 |
| primary ciliary dyskinesia 25 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| active Crohn's disease | 1.149 | 4.1e-02 |
| adult high grade glioma | 1.100 | 1.9e-03 |
| Astrocytoma, Pilocytic | 1.300 | 9.6e-07 |
| atypical teratoid / rhabdoid tumor | 2.200 | 1.6e-04 |
| ependymoma | 3.400 | 2.6e-20 |
| glioblastoma | 1.700 | 2.4e-06 |
| group 3 medulloblastoma | 2.200 | 9.2e-07 |
| nasopharyngeal carcinoma | -1.800 | 6.2e-04 |
| primitive neuroectodermal tumor | 1.700 | 1.6e-03 |
MPLQVSDYSWQQTKTAVFLSLPLKGVCVRDTDVFCTENYLKVNFPPFLFEAFLYAPIDDESSKAKIGNDT 1 - 70 IVFTLYKKEAAMWETLSVTGVDKEMMQRIREKSILQAQERAKEATEAKAAAKREDQKYALSVMMKIEEEE 71 - 140 RKKIEDMKENERIKATKALEAWKEYQRKAEEQKKIQREEKLCQKEKQIKEERKKIKYKSLTRNLASRNLA 141 - 210 PKGRNSENIFTEKLKEDSIPAPRSVGSIKINFTPRVFPTALRESQVAEEEEWLHKQAEARRAMNTDIAEL 211 - 280 CDLKEEEKNPEWLKDKGNKLFATENYLAAINAYNLAIRLNNKMPLLYLNRAACHLKLKNLHKAIEDSSKA 281 - 350 LELLMPPVTDNANARMKAHVRRGTAFCQLELYVEGLQDYEAALKIDPSNKIVQIDAEKIRNVIQGTELKS 351 - 420 //
