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: 26121
MIM: 606419
HGNC: 15446
Ensembl: ENSG00000105618
Variants:
dbSNP: 26121
ClinVar: 26121
TCGA: ENSG00000105618
COSMIC: PRPF31
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443890 | Diabetes Mellitus, Type 2 | Disease | ClinicalAnnotation | associated | PD | 29650774 | |
| PA450395 | metformin | Chemical | ClinicalAnnotation | associated | PD | 29650774 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38542364 | 2024 | A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31. | 0 |
| 38542364 | 2024 | A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31. | 0 |
| 33877886 | 2023 | Long Noncoding RNA RP11-89K21.1 Interacts with miR-146a/b-5p to Promote Proliferation and Gefitinib Resistance Through Regulating RHPN2 and RhoA/ROCK Pathway in Lung Adenocarcinoma. | 1 |
| 36164253 | 2023 | Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up. | 3 |
| 38139438 | 2023 | Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome. | 0 |
| 33877886 | 2023 | Long Noncoding RNA RP11-89K21.1 Interacts with miR-146a/b-5p to Promote Proliferation and Gefitinib Resistance Through Regulating RHPN2 and RhoA/ROCK Pathway in Lung Adenocarcinoma. | 1 |
| 36164253 | 2023 | Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up. | 3 |
| 38139438 | 2023 | Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome. | 0 |
| 35297555 | 2022 | Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells. | 8 |
| 35866595 | 2022 | LncRNA RP11‑805J14.5 functions as a ceRNA to regulate CCND2 by sponging miR‑34b‑3p and miR‑139‑5p in lung adenocarcinoma. | 5 |
| 36088804 | 2022 | PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization. | 1 |
| 36317469 | 2022 | Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu-mediated copy number variations at the PRPF31 locus. | 1 |
| 35297555 | 2022 | Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells. | 8 |
| 35866595 | 2022 | LncRNA RP11‑805J14.5 functions as a ceRNA to regulate CCND2 by sponging miR‑34b‑3p and miR‑139‑5p in lung adenocarcinoma. | 5 |
| 36088804 | 2022 | PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization. | 1 |
Citation
Dessen P
PRPF31 (pre-mRNA processing factor 31)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46070/prpf31
