PRP4K

Chr 6

pre-mRNA processing factor kinase PRP4K

Also known as: PR4H, PRP4, PRP4H, PRPF4B, Prp4B, dJ1013A10.1

Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belongs to a kinase family that includes serine/arginine-rich protein-specific kinases and cyclin-dependent kinases (CDKs). This protein is regarded as a CDK-like kinase (Clk) with homology to mitogen-activated protein kinases (MAPKs). [provided by RefSeq, Jul 2008]

92
ClinVar variants
43
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryPRP4K
📋
ClinVar Variants
43 Pathogenic / Likely Pathogenic· 40 VUS of 92 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

92 submitted variants in ClinVar

Classification Summary

Pathogenic38
Likely Pathogenic5
VUS40
Likely Benign7
Benign2
38
Pathogenic
5
Likely Pathogenic
40
VUS
7
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
38
0
38
Likely Pathogenic
0
0
5
0
5
VUS
0
38
2
0
40
Likely Benign
0
2
2
3
7
Benign
0
0
0
2
2
Total04047592

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PRP4K · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Tinker, Tailor, Tumour Suppressor: The Many Functions of PRP4K.
Habib EB et al.·Front Genet
2022🔓 Open Access

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →