| Tbio | Intraflagellar transport protein 52 homolog |
Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia (PubMed:27466190). Required for the anterograde transport of IFT88 (PubMed:27466190).
This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]
This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Gastrointestinal Stromal Tumors | 48 | 0.0 | 0.0 |
| Short Rib-Polydactyly Syndrome | 13 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| posterior fossa group B ependymoma | 416 | 1.3e-09 |
| ovarian cancer | 8520 | 8.4e-05 |
| group 3 medulloblastoma | 4104 | 2.7e-04 |
| lung cancer | 4740 | 2.8e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Polydactyly | 107 | 4.617 | 2.3 |
| Ciliopathy | 71 | 4.251 | 2.1 |
| Asphyxiating thoracic dystrophy | 44 | 3.654 | 1.8 |
| Nephronophthisis | 80 | 3.652 | 1.8 |
| Anencephaly | 26 | 3.002 | 1.5 |
| Disease | Target Count |
|---|---|
| Sensenbrenner syndrome | 17 |
| Disease | log2 FC | p |
|---|---|---|
| group 3 medulloblastoma | 1.100 | 2.7e-04 |
| lung cancer | 1.100 | 2.8e-03 |
| ovarian cancer | 1.400 | 8.4e-05 |
| posterior fossa group B ependymoma | 1.100 | 1.3e-09 |
MEKELRSTILFNAYKKEIFTTNNGYKSMQKKLRSNWKIQSLKDEITSEKLNGVKLWITAGPREKFTAAEF 1 - 70 EILKKYLDTGGDVFVMLGEGGESRFDTNINFLLEEYGIMVNNDAVVRNVYHKYFHPKEALVSSGVLNREI 71 - 140 SRAAGKAVPGIIDEESSGNNAQALTFVYPFGATLSVMKPAVAVLSTGSVCFPLNRPILAFYHSKNQGGKL 141 - 210 AVLGSCHMFSDQYLDKEENSKIMDVVFQWLTTGDIHLNQIDAEDPEISDYMMLPYTATLSKRNRECLQES 211 - 280 DEIPRDFTTLFDLSIFQLDTTSFHSVIEAHEQLNVKHEPLQLIQPQFETPLPTLQPAVFPPSFRELPPPP 281 - 350 LELFDLDETFSSEKARLAQITNKCTEEDLEFYVRKCGDILGVTSKLPKDQQDAKHILEHVFFQVVEFKKL 351 - 420 NQEHDIDTSETAFQNNF 421 - 437 //
