| Tbio | rRNA 2'-O-methyltransferase fibrillarin |
S-adenosyl-L-methionine-dependent methyltransferase that has the ability to methylate both RNAs and proteins. Involved in pre-rRNA processing by catalyzing the site-specific 2'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Site specificity is provided by a guide RNA that base pairs with the substrate. Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA. Also acts as a protein methyltransferase by mediating methylation of 'Gln-105' of histone H2A (H2AQ104me), a modification that impairs binding of the FACT complex and is specifically present at 35S ribosomal DNA locus (PubMed:24352239).
This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008]
This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Adenocarcinoma of lung | 142 | 0.0 | 0.0 |
| Autoimmune Diseases | 67 | 0.0 | 0.0 |
| Breast Neoplasms | 445 | 0.0 | 0.0 |
| Disease Models, Animal | 155 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Mammary Neoplasms | 425 |
| Disease | Target Count | P-value |
|---|---|---|
| acute quadriplegic myopathy | 1158 | 1.3e-08 |
| glioblastoma | 5792 | 1.2e-07 |
| pediatric high grade glioma | 1064 | 3.7e-07 |
| atypical teratoid / rhabdoid tumor | 5112 | 8.1e-07 |
| group 3 medulloblastoma | 4104 | 2.4e-06 |
| medulloblastoma, large-cell | 6241 | 3.8e-06 |
| invasive ductal carcinoma | 2951 | 2.6e-05 |
| primitive neuroectodermal tumor | 3035 | 1.9e-04 |
| Multiple myeloma | 1332 | 2.6e-04 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 1.2e-03 |
| cutaneous lupus erythematosus | 1057 | 2.0e-03 |
| osteosarcoma | 7950 | 2.2e-03 |
| lung cancer | 4740 | 2.4e-03 |
| Waldenstrons macroglobulinemia | 765 | 7.2e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Liver Cirrhosis | 181 | 5.84 | 2.9 |
| Hepatitis B | 108 | 5.487 | 2.7 |
| Hepatitis C | 94 | 5.404 | 2.7 |
| Fatty liver disease | 103 | 5.045 | 2.5 |
| Hepatitis | 67 | 4.54 | 2.3 |
| Systemic scleroderma | 60 | 4.431 | 2.2 |
| Vascular disease | 319 | 3.93 | 2.0 |
| Cancer | 2499 | 3.364 | 1.7 |
| Disseminated intravascular coagulation | 38 | 3.178 | 1.6 |
| Disease | log2 FC | p |
|---|---|---|
| acute quadriplegic myopathy | 1.199 | 1.3e-08 |
| atypical teratoid / rhabdoid tumor | 1.600 | 8.1e-07 |
| cutaneous lupus erythematosus | -1.400 | 2.0e-03 |
| glioblastoma | 1.100 | 1.2e-07 |
| group 3 medulloblastoma | 1.900 | 2.4e-06 |
| intraductal papillary-mucinous neoplasm ... | -1.300 | 1.2e-03 |
| invasive ductal carcinoma | -1.353 | 2.6e-05 |
| lung cancer | 1.700 | 2.4e-03 |
| medulloblastoma, large-cell | 2.400 | 3.8e-06 |
| Multiple myeloma | 2.218 | 2.6e-04 |
| osteosarcoma | -1.370 | 2.2e-03 |
| pediatric high grade glioma | 1.200 | 3.7e-07 |
| primitive neuroectodermal tumor | 1.300 | 1.9e-04 |
| Waldenstrons macroglobulinemia | 1.113 | 7.2e-03 |
MKPGFSPRGGGFGGRGGFGDRGGRGGRGGFGGGRGRGGGFRGRGRGGGGGGGGGGGGGRGGGGFHSGGNR 1 - 70 GRGRGGKRGNQSGKNVMVEPHRHEGVFICRGKEDALVTKNLVPGESVYGEKRVSISEGDDKIEYRAWNPF 71 - 140 RSKLAAAILGGVDQIHIKPGAKVLYLGAASGTTVSHVSDIVGPDGLVYAVEFSHRSGRDLINLAKKRTNI 141 - 210 IPVIEDARHPHKYRMLIAMVDVIFADVAQPDQTRIVALNAHTFLRNGGHFVISIKANCIDSTASAEAVFA 211 - 280 SEVKKMQQENMKPQEQLTLEPYERDHAVVVGVYRPPPKVKN 281 - 321 //
