CKS1B

Chr 1

CDC28 protein kinase regulatory subunit 1B

Also known as: CKS1, PNAS-16, PNAS-18, ckshs1

CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008]

OMIMResearchGenerating clinical summary…
LOEUF 0.88
Clinical SummaryCKS1B
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.19) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.88LOEUF
pLI 0.431
Z-score 1.75
OE 0.19 (0.070.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.31Z-score
OE missense 0.46 (0.320.66)
21 obs / 46.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.19 (0.070.88)
00.351.4
Missense OE?0.46 (0.320.66)
00.61.4
Synonymous OE?0.78
01.21.6
LoF obs/exp: 1 / 5.4Missense obs/exp: 21 / 46.1Syn Z: 0.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CKS1B · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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