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: 6100
MIM: 607331
HGNC: 10288
Ensembl: ENSG00000164610
Variants:
dbSNP: 6100
ClinVar: 6100
TCGA: ENSG00000164610
COSMIC: RP9
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000164610 | ENST00000297157 | Q8TA86 |
| ENSG00000164610 | ENST00000297157 | A0A090N8Z0 |
| ENSG00000164610 | ENST00000448915 | C9J6V2 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Spliceosome | KEGG | ko03040 |
| Spliceosome | KEGG | hsa03040 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
| 15541726 | 2005 | Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex. | 21 |
| 15652350 | 2005 | CIR, a corepressor of CBF1, binds to PAP-1 and effects alternative splicing. | 5 |
| 15541726 | 2005 | Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex. | 21 |
| 15652350 | 2005 | CIR, a corepressor of CBF1, binds to PAP-1 and effects alternative splicing. | 5 |
| 15474994 | 2004 | PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. | 33 |
| 15474994 | 2004 | PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. | 33 |
| 12032732 | 2002 | Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. | 36 |
| 12032732 | 2002 | Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. | 36 |
Citation
Dessen P
RP9 (RP9 pre-mRNA splicing factor)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72772/rp9-(rp9-pre-mrna-splicing-factor)
