TPTEP2-CSNK1E
Chr 22TPTEP2-CSNK1E readthrough
Also known as: LOC400927-CSNK1E
The readthrough transcript encodes casein kinase I epsilon, a serine/threonine kinase that regulates circadian rhythms, Wnt signaling, and cell cycle progression. Mutations cause autosomal dominant familial advanced sleep phase syndrome, characterized by very early sleep onset and wake times. This circadian rhythm disorder typically manifests in adulthood with extreme morning preference and difficulty staying awake in the evening.
Some data sources returned errors (1)
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
62 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 7 | 0 | 8 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 34 | 0 | 0 | 34 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 2 | 1 | 3 |
| Total | 1 | 34 | 9 | 1 | 45 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TPTEP2-CSNK1E · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools