| Tbio | RNA-binding protein 28 |
Nucleolar component of the spliceosomal ribonucleoprotein complexes.
The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Alopecia, Neurologic Defects, and Endocrinopathy Syndrome | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| oligodendroglioma | 2850 | 8.3e-18 |
| acute quadriplegic myopathy | 1158 | 2.7e-08 |
| glioblastoma | 5792 | 7.2e-07 |
| atypical teratoid / rhabdoid tumor | 5112 | 2.6e-06 |
| osteosarcoma | 7950 | 2.8e-05 |
| ovarian cancer | 8520 | 4.5e-05 |
| adult high grade glioma | 3801 | 6.9e-05 |
| lung cancer | 4740 | 1.0e-04 |
| group 3 medulloblastoma | 4104 | 1.9e-04 |
| medulloblastoma, large-cell | 6241 | 3.9e-04 |
| colon cancer | 1478 | 1.8e-03 |
| astrocytic glioma | 2597 | 1.3e-02 |
| Breast cancer | 3578 | 2.9e-02 |
| Disease | log2 FC | p |
|---|---|---|
| acute quadriplegic myopathy | 1.192 | 2.7e-08 |
| adult high grade glioma | 1.100 | 6.9e-05 |
| astrocytic glioma | 1.200 | 1.3e-02 |
| atypical teratoid / rhabdoid tumor | 1.200 | 2.6e-06 |
| Breast cancer | -2.300 | 2.9e-02 |
| colon cancer | 1.100 | 1.8e-03 |
| glioblastoma | 1.300 | 7.2e-07 |
| group 3 medulloblastoma | 1.300 | 1.9e-04 |
| lung cancer | 2.200 | 1.0e-04 |
| medulloblastoma, large-cell | 1.100 | 3.9e-04 |
| oligodendroglioma | 1.100 | 8.3e-18 |
| osteosarcoma | -1.212 | 2.8e-05 |
| ovarian cancer | 1.300 | 4.5e-05 |
MAGLTLFVGRLPPSARSEQLEELFSQVGPVKQCFVVTEKGSKACRGFGYVTFSMLEDVQRALKEITTFEG 1 - 70 CKINVTVAKKKLRNKTKEKGKNENSECPKKEPKAKKAKVADKKARLIIRNLSFKCSEDDLKTVFAQFGAV 71 - 140 LEVNIPRKPDGKMRGFGFVQFKNLLEAGKALKGMNMKEIKGRTVAVDWAVAKDKYKDTQSVSAIGEEKSH 141 - 210 ESKHQESVKKKGREEEDMEEEENDDDDDDDDEEDGVFDDEDEEEENIESKVTKPVQIQKRAVKRPAPAKS 211 - 280 SDHSEEDSDLEESDSIDDGEELAQSDTSTEEQEDKAVQVSNKKKRKLPSDVNEGKTVFIRNLSFDSEEEE 281 - 350 LGELLQQFGELKYVRIVLHPDTEHSKGCAFAQFMTQEAAQKCLLAASPENEAGGLKLDGRQLKVDLAVTR 351 - 420 DEAAKLQTTKVKKPTGTRNLYLAREGLIRAGTKAAEGVSAADMAKRERFELLKHQKLKDQNIFVSRTRLC 421 - 490 LHNLPKAVDDKQLRKLLLSATSGEKGVRIKECRVMRDLKGVHGNMKGQSLGYAFAEFQEHEHALKALRLI 491 - 560 NNNPEIFGPLKRPIVEFSLEDRRKLKMKELRIQRSLQKMRSKPATGEPQKGQPEPAKDQQQKAAQHHTEE 561 - 630 QSKVPPEQKRKAGSTSWTGFQTKAEVEQVELPDGKKRRKVLALPSHRGPKIRLRDKGKVKPVHPKKPKPQ 631 - 700 INQWKQEKQQLSSEQVSRKKAKGNKTETRFNQLVEQYKQKLLGPSKGAPLAKRSKWFDS 701 - 759 //
