CWC27

Chr 5q12.3

CWC27 spliceosome associated cyclophilin

Aliases:: NY-CO-10, SDCCAG-10
MANE:: ENST00000381070.8

OMIM: 617170 ↗NCBI: 10283 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

CWC27 · Q6UX04

v62025-08-01

Predicted Aligned Error matrix for CWC27 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.6/ 100

Confident

472 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)41%
Low(50–70)16%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Metaphyseal chondrodysplasia - retinitis pigmentosa
0.76
metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
0.75
retinitis pigmentosa
0.45
Abnormality of the skeletal system
0.44
Retinal dystrophy
0.43
osteoarthritis, hip
0.41
diverticular disease
0.40
osteoarthritis
0.38
osteoarthritis, knee
0.38
dengue disease
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Spliceosome-associated protein CWC27 homolog

As part of the spliceosome, plays a role in pre-mRNA splicing (PubMed:29360106). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable)