Identity
HGNC
LOCATION
8q24.3
LOCUSID
ALIAS
FIR,RoBPI,SIAHBP1,VRJS
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 22827
MIM: 604819
HGNC: 17042
Ensembl: ENSG00000179950
Variants:
dbSNP: 22827
ClinVar: 22827
TCGA: ENSG00000179950
COSMIC: PUF60
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38396730 | 2024 | Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders. | 0 |
| 38396730 | 2024 | Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders. | 0 |
| 37303278 | 2023 | PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants. | 2 |
| 37682709 | 2023 | PUF60 promotes cell cycle and lung cancer progression by regulating alternative splicing of CDC25C. | 2 |
| 37303278 | 2023 | PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants. | 2 |
| 37682709 | 2023 | PUF60 promotes cell cycle and lung cancer progression by regulating alternative splicing of CDC25C. | 2 |
| 36335869 | 2022 | PUF60 promotes glioblastoma progression through regulation of EGFR stability. | 3 |
| 36367278 | 2022 | The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. | 2 |
| 36335869 | 2022 | PUF60 promotes glioblastoma progression through regulation of EGFR stability. | 3 |
| 36367278 | 2022 | The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. | 2 |
| 33061812 | 2020 | Poly(U) binding splicing factor 60 promotes renal cell carcinoma growth by transcriptionally upregulating telomerase reverse transcriptase. | 4 |
| 33253191 | 2020 | Unraveling the mechanism of recognition of the 3' splice site of the adenovirus major late promoter intron by the alternative splicing factor PUF60. | 3 |
| 33061812 | 2020 | Poly(U) binding splicing factor 60 promotes renal cell carcinoma growth by transcriptionally upregulating telomerase reverse transcriptase. | 4 |
| 33253191 | 2020 | Unraveling the mechanism of recognition of the 3' splice site of the adenovirus major late promoter intron by the alternative splicing factor PUF60. | 3 |
| 28990276 | 2018 | Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. | 20 |
Citation
Dessen P
PUF60 (poly(U) binding splicing factor 60)
Atlas Genet Cytogenet Oncol Haematol. 2012-11-01
Online version: http://atlasgeneticsoncology.org/gene/52933/puf60
