Identity
HGNC
LOCATION
5q12.3
LOCUSID
ALIAS
NY-CO-10,RPSKA,SDCCAG-10,SDCCAG10
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: 10283
MIM: 617170
HGNC: 10664
Ensembl: ENSG00000153015
Variants:
dbSNP: 10283
ClinVar: 10283
TCGA: ENSG00000153015
COSMIC: CWC27
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000153015 | ENST00000381070 | Q6UX04 |
| ENSG00000153015 | ENST00000508024 | D6REK3 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36718996 | 2023 | Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature. | 0 |
| 36718996 | 2023 | Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature. | 0 |
| 32329775 | 2020 | Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes. | 15 |
| 32329775 | 2020 | Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes. | 15 |
| 28285769 | 2017 | Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. | 41 |
| 28285769 | 2017 | Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. | 41 |
| 27206850 | 2016 | Genome-Wide Association Study of Bladder Cancer in a Chinese Cohort Reveals a New Susceptibility Locus at 5q12.3. | 20 |
| 27206850 | 2016 | Genome-Wide Association Study of Bladder Cancer in a Chinese Cohort Reveals a New Susceptibility Locus at 5q12.3. | 20 |
| 25478830 | 2014 | Structure and evolution of the spliceosomal peptidyl-prolyl cis-trans isomerase Cwc27. | 10 |
| 25478830 | 2014 | Structure and evolution of the spliceosomal peptidyl-prolyl cis-trans isomerase Cwc27. | 10 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
CWC27 (CWC27 spliceosome associated cyclophilin)
Atlas Genet Cytogenet Oncol Haematol. 2003-06-01
Online version: http://atlasgeneticsoncology.org/gene/42228/cwc27-(cwc27-spliceosome-associated-cyclophilin)
