PRPF6

Chr 20q13.33

pre-mRNA processing factor 6

Aliases:: TOM, bB152O15.1, ANT-1, U5-102K, Prp6
MANE:: ENST00000266079.5

OMIM: 613979 ↗NCBI: 24148 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PRPF6 · O94906

v62025-08-01

Predicted Aligned Error matrix for PRPF6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.6/ 100

Confident

941 residues

Confidence breakdown

Very high(≥ 90)25%
Confident(70–90)56%
Low(50–70)7%
Very low(< 50)12%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Glaucoma (developmental)
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

retinitis pigmentosa
0.65
neurodegenerative disease
0.51
Retinal dystrophy
0.37
dengue disease
0.37
Abnormality of the skeletal system
0.32
hypertensive disorder
0.13
kidney disorder
0.08
hepatocellular carcinoma
0.08
cancer
0.08
colonic neoplasm
0.08

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

Protein function (UniProt)

Pre-mRNA-processing factor 6

Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome (PubMed:20118938, PubMed:21549338, PubMed:28781166). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation