| Tbio | Centrosomal protein of 135 kDa |
Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole.
This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]
This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ulcerative colitis | 1819 | 2.0e-08 |
| ependymoma | 4679 | 5.6e-08 |
| glioblastoma | 5792 | 2.5e-07 |
| Astrocytoma, Pilocytic | 3081 | 1.0e-05 |
| psoriasis | 6694 | 1.1e-05 |
| group 3 medulloblastoma | 4104 | 2.1e-05 |
| tuberculosis and treatment for 6 months | 409 | 3.1e-05 |
| nasopharyngeal carcinoma | 1058 | 6.1e-05 |
| atypical teratoid / rhabdoid tumor | 5112 | 7.5e-05 |
| ovarian cancer | 8520 | 3.1e-04 |
| adult high grade glioma | 3801 | 1.4e-03 |
| primitive neuroectodermal tumor | 3035 | 2.3e-03 |
| osteosarcoma | 7950 | 1.0e-02 |
| non primary Sjogren syndrome sicca | 891 | 2.0e-02 |
| spina bifida | 1074 | 3.6e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Microcephaly | 166 | 4.473 | 2.2 |
| Intellectual disability | 1016 | 0.0 | 4.0 |
| Disease | Target Count |
|---|---|
| Primary autosomal recessive microcephaly 8 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | 1.100 | 1.4e-03 |
| Astrocytoma, Pilocytic | 1.200 | 1.0e-05 |
| atypical teratoid / rhabdoid tumor | 1.100 | 7.5e-05 |
| ependymoma | 1.300 | 5.6e-08 |
| glioblastoma | 1.600 | 2.5e-07 |
| group 3 medulloblastoma | 2.300 | 2.1e-05 |
| nasopharyngeal carcinoma | 1.300 | 6.1e-05 |
| non primary Sjogren syndrome sicca | -1.200 | 2.0e-02 |
| osteosarcoma | -1.545 | 1.0e-02 |
| ovarian cancer | -1.100 | 3.1e-04 |
| primitive neuroectodermal tumor | 1.300 | 2.3e-03 |
| psoriasis | -2.500 | 1.1e-05 |
| spina bifida | -1.749 | 3.6e-02 |
| tuberculosis and treatment for 6 months | 1.400 | 3.1e-05 |
| ulcerative colitis | 1.300 | 2.0e-08 |
MTTAVERKYINIRKRLDQLGYRQTLTVECLPLVEKLFSDLVHTTESLRQSKLSAVKAEKESANFDFVLEP 1 - 70 YKLENARLSRENNELYLELMKLREHSDQHVKELKTSLKKCARETADLKFLNNQYAHKLKLLEKESKAKNE 71 - 140 RIQQLQEKNLHAVVQTPGGKKRSIAFRRQRMQIDEPVPPSEVSSYPVPQPDDPYIADLLQVADNRIQELQ 141 - 210 QEVHQLQEKLAMMESGVRDYSKQIELREREIERLSVALDGGRSPDVLSLESRNKTNEKLIAHLNIQVDFL 211 - 280 QQANKDLEKRIRELMETKETVTSEVVNLSNKNEKLCQELTEIDQLAQQLERHKEEVLETADKELGEAKKE 281 - 350 IKRKLSEMQDLEETMAKLQLELNLCQKEKERLSDELLVKSDLETVVHQLEQEKQRLSKKVESFAVTERQL 351 - 420 TLEVERMRLEHGIKRRDRSPSRLDTFLKGIEEERDYYKKELERLQHIIQRRSCSTSYSAREKSSIFRTPE 421 - 490 KGDYNSEIHQITRERDELQRMLERFEKYMEDIQSNVKLLTAERDKLSVLYNEAQEELSALRKESTQTTAP 491 - 560 HNIVSLMEKEKELALSDLRRIMAEKEALREKLEHIEEVSLFGKSELEKTIEHLTCVNHQLESEKYELKSK 561 - 630 VLIMKETIESLENKLKVQAQKFSHVAGDSSHQKTEVNSLRIVNEQLQRSVDDYQHRLSIKRGELESAQAQ 631 - 700 IKILEEKIDELNLKMTSQDEEAHVMKKTIGVIDKEKDFLQETVDEKTEKIANLQENLANKEKAVAQMKIM 701 - 770 ISECESSVNQLKETLVNRDREINSLRRQLDAAHKELDEVGRSREIAFKENRRLQDDLATMARENQEISLE 771 - 840 LEAAVQEKEEMKSRVHKYITEVSRWESLMAAKEKENQDLLDRFQMLHNRAEDWEVKAHQAEGESSSVRLE 841 - 910 LLSIDTERRHLRERVELLEKEIQEHINAHHAYESQISSMAKAMSRLEEELRHQEDEKATVLNDLSSLREL 911 - 980 CIKLDSGKDIMTQQLNSKNLEFERVVVELENVKSESDLLKKQLSNERHTVKNLESLLATNRDKEFHSHLT 981 - 1050 SHEKDTEIQLLKEKLTLSESKLTSQSRENTMLRAKVAQLQTDYDALKRQISTERYERERAIQEMRRHGLA 1051 - 1120 TPPLSSTLRSPSHSPEHRNV 1121 - 1140 //
