| Tbio | Small nuclear ribonucleoprotein-associated protein N |
May be involved in tissue-specific alternative RNA processing events.
This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained open reading frame is found on a bicistronic transcript which has a downstream ORF encoding the small nuclear ribonucleoprotein polypeptide N. The upstream coding region utilizes the first three exons of the transcript, a region that has been identified as an imprinting center. Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region but the full-length nature of these transcripts has not been determined. An alternate exon has been identified that substitutes for exon 4 and leads to a truncated, monocistronic transcript. Alternative splicing or deletion caused by a translocation event in the 5' UTR or coding region of this gene leads to Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. The function of this protein is not yet known. [provided by RefSeq, Jul 2008]
This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained open reading frame is found on a bicistronic transcript which has a downstream ORF encoding the small nuclear ribonucleoprotein polypeptide N. The upstream coding region utilizes the first three exons of the transcript, a region that has been identified as an imprinting center. Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region but the full-length nature of these transcripts has not been determined. An alternate exon has been identified that substitutes for exon 4 and leads to a truncated, monocistronic transcript. Alternative splicing or deletion caused by a translocation event in the 5' UTR or coding region of this gene leads to Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. The function of this protein is not yet known. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| malignant mesothelioma | 3163 | 5.65475175757036E-9 |
| adult high grade glioma | 2148 | 4.6449661290145E-8 |
| sonic hedgehog group medulloblastoma | 1482 | 4.8575888256859E-8 |
| medulloblastoma, large-cell | 6234 | 5.92126325857293E-6 |
| atypical teratoid / rhabdoid tumor | 4369 | 1.69401420659791E-5 |
| ovarian cancer | 8492 | 9.23057635932099E-5 |
| lung cancer | 4473 | 1.85682256153742E-4 |
| glioblastoma | 5572 | 6.51852587223676E-4 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2988 | 0.00324286443836169 |
| subependymal giant cell astrocytoma | 2287 | 0.00527239166798549 |
| Multiple myeloma | 1328 | 0.0086618193255443 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3289 | 0.00912972336391806 |
| ependymoma | 2514 | 0.0383980941912377 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Chronic obstructive pulmonary disease | 147 | 0.0 | 1.0 |
| Type 2 diabetes mellitus | 192 | 0.0 | 1.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Prader-Willi syndrome | 45 | 6.357 | 3.2 |
| Angelman syndrome | 38 | 5.723 | 2.9 |
| Disease | log2 FC | p |
|---|---|---|
| Multiple myeloma | 1.153 | 0.009 |
| malignant mesothelioma | -6.300 | 0.000 |
| ependymoma | -1.400 | 0.038 |
| glioblastoma | -1.400 | 0.001 |
| atypical teratoid / rhabdoid tumor | -1.200 | 0.000 |
| medulloblastoma, large-cell | -1.500 | 0.000 |
| intraductal papillary-mucinous carcinoma... | -1.700 | 0.003 |
| intraductal papillary-mucinous neoplasm ... | -2.800 | 0.009 |
| lung cancer | 1.200 | 0.000 |
| adult high grade glioma | -1.400 | 0.000 |
| sonic hedgehog group medulloblastoma | -1.100 | 0.000 |
| subependymal giant cell astrocytoma | -1.581 | 0.005 |
| ovarian cancer | -2.100 | 0.000 |
| PMID | Text |
|---|---|
| 22679513 | significant IGF2 hypermethylation (20 +/- 10 vs. 14 +/- 7%; p<0.05) and SNURF hypomethylation (23 +/- 6 vs. 32 6%; p<0.001) was found in Albright's hereditary osteodystrophy patients vs. controls. |
| 21227640 | Differences between genetic subtypes were also statistically significant in Prader Willi syndrome |
| 16116039 | Identification of cis- and trans-acting regulatory elements within the endogenous SNURF-SNRPN locus. |
| 11726556 | The SNURF-SNRPN sense/UBE3A antisense transcription unit spans more than 460 kb. |
| PMID | Year | Title |
|---|---|---|
| 24129315 | 2014 | Immunoaffinity enrichment and mass spectrometry analysis of protein methylation. |
| 22679513 | 2012 | Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. |
| 21227640 | Behavioral phenotype in adults with Prader-Willi syndrome. | |
| 17207965 | 2007 | hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. |
| 16572171 | 2006 | Analysis of the DNA sequence and duplication history of human chromosome 15. |
| 16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |
| 16116039 | 2005 | Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus. |
| 15955813 | 2005 | Tudor domains bind symmetrical dimethylated arginines. |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
| 15014980 | 2004 | SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. |
| More... |
