Property Summary

NCBI Gene PubMed Count 73
Grant Count 15
R01 Count 11
Funding $1,243,515.73
PubMed Score 180.92
PubTator Score 182.25

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
ependymoma 1.200 0.039
psoriasis 2.700 0.000
group 3 medulloblastoma 1.200 0.007
ovarian cancer 2.400 0.000
Gaucher disease type 1 -1.300 0.029

Gene RIF (51)

PMID Text
27212874 This is the first Swedish report of the clinical phenotype associated with a mutation in the PRPF31 (p.IVS6+1G>T) gene.
26959129 As PRPF31 mutations cause retinitis pigmentosa by haploinsufficiency, this is a good candidate for adeno-associated virus (AAV)-based gene augmentation therapy.
26894541 The small nuclear ribonucleoprotein U4 core-domain structure has now been re-refined. The U4 Sm site-sequence AAUUUUU has been shown to bind to the seven Sm proteins SmF-SmE-SmG-SmD3-SmB-SmD1-SmD2 in an identical manner as the U1 Sm-site sequence AAUUUGU, except in SmD1 where the bound U replaces G.
24595387 We have identified a novel 14-bp deletion in PRPF31 as the genetic driver of adRP in a large Mexican family that exhibits nonpenetrance and variable expressivity, known properties of this locus.
24319336 Two novel PRPF31 mutations including a complex insertion-deletion mutation have been identified in Chinese families with retinitis pigmentosa.
24244300 identification of the novel "A" insertion mutation in exon9 at chr19:54629961-54629961 in PRPF31 can provide further genetic evidence for clinical test for adRP and JMD.
24116917 A mutation in PRPF31 is hypostatic to a trait acting on CNOT3, with the RP11 phenotype only being observed when there is homozygous (recessive) inheritance of the higher expressivity CNOT3 ("symptomatic" or risk) allele.
23834559 A PRPF31 mutation was identified to be responsible for adRP in a large Chinese family. Our findings expand the mutation spectrum of RP in the Chinese population.
23343310 The molecular and clinical features of a family with a novel 3-base insertion, c.914_915insTGT (p.Val305_Asp306insVal) in exon 9 of PRPF31 are described to illustrate the salient clinical features of mutations in this gene.
23288994 Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients occur at a relatively high frequency.
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AA Sequence

MSLADELLADLEEAAEEEEGGSYGEEEEEPAIEDVQEETQLDLSGDSVKTIAKLWDSKMFAEIMMKIEEY      1 - 70
ISKQAKASEVMGPVEAAPEYRVIVDANNLTVEIENELNIIHKFIRDKYSKRFPELESLVPNALDYIRTVK     71 - 140
ELGNSLDKCKNNENLQQILTNATIMVVSVTASTTQGQQLSEEELERLEEACDMALELNASKHRIYEYVES    141 - 210
RMSFIAPNLSIIIGASTAAKIMGVAGGLTNLSKMPACNIMLLGAQRKTLSGFSSTSVLPHTGYIYHSDIV    211 - 280
QSLPPDLRRKAARLVAAKCTLAARVDSFHESTEGKVGYELKDEIERKFDKWQEPPPVKQVKPLPAPLDGQ    281 - 350
RKKRGGRRYRKMKERLGLTEIRKQANRMSFGEIEEDAYQEDLGFSLGHLGKSGSGRVRQTQVNEATKARI    351 - 420
SKTLQRTLQKQSVVYGGKSTIRDRSSGTASSVAFTPLQGLEIVNPQAAEKKVAEANQKYFSSMAEFLKVK    421 - 490
GEKSGLMST                                                                 491 - 499
//

Publication (79)

PMID Year Title
27212874 2016 Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
26959129 2016 Course of Ocular Function in PRPF31 Retinitis Pigmentosa.
26894541 2016 Re-refinement of the spliceosomal U4 snRNP core-domain structure.
24595387 2014 Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.
24319336 2013 Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24244300 2013 A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.
24116917 2014 Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".
23834559 2015 Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.
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