Property Summary

NCBI Gene PubMed Count 17
PubMed Score 44.64
PubTator Score 7.53

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

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
Prader-Willi syndrome 45 6.357 3.2
Angelman syndrome 38 5.723 2.9

Expression

Synonym

Accession P63162 B3KVR1 P14648 P17135 Q0D2Q5 snRNP-N
Symbols

Gene

  Ortholog (3)

Species Source
Chimp OMA Inparanoid
Mouse OMA Inparanoid
Rat OMA Inparanoid

 GO Function (1)

Gene RIF (4)

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.

AA Sequence

MTVGKSSKMLQHIDYRMRCILQDGRIFIGTFKAFDKHMNLILCDCDEFRKIKPKNAKQPEREEKRVLGLV      1 - 70
LLRGENLVSMTVEGPPPKDTGIARVPLAGAAGGPGVGRAAGRGVPAGVPIPQAPAGLAGPVRGVGGPSQQ     71 - 140
VMTPQGRGTVAAAAVAATASIAGAPTQYPPGRGTPPPPVGRATPPPGIMAPPPGMRPPMGPPIGLPPARG    141 - 210
TPIGMPPPGMRPPPPGIRGPPPPGMRPPRP                                            211 - 240
//

Text Mined References (21)

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.
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