TPTEP2-CSNK1E

Chr 22

TPTEP2-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.

ResearchSummary from RefSeq

This locus represents naturally occurring readthrough transcription between the neighboring LOC400927 (transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene) and CSNK1E (casein kinase I isoform epsilon) genes on chromosome 22. The readthrough transcript encodes the same protein as the downstream gene product (casein kinase I isoform epsilon). [provided by RefSeq, Feb 2014]

ResearchGenerating clinical summary…

Clinical Summary— TPTEP2-CSNK1E

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 34 VUS of 55 total submissions

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Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

55 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

VUS34

Benign3

Pathogenic

VUS

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	1	0	0	0	1
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	2	1	38

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

View in ClinVar →

7 pathogenic / likely-pathogenic (of 7) ClinVar copy-number / structural variants overlap TPTEP2-CSNK1E — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →