CILK1

Chr 6

ciliogenesis associated kinase 1

Also known as: CED6, ECO, EJM10, ICK, LCK2, MRK, hICK

Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEndocrine-cerebroosteodysplasia
UniProtJuvenile myoclonic epilepsy 10
UniProtCranioectodermal dysplasia 6
0
Active trials
7
Pubs (1 yr)
P/LP submissions
P/LP missense
0.61
LOEUF
DN
Mechanism· predicted
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GeneReview available — CILK1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.61LOEUF
pLI 0.000
Z-score 3.42
OE 0.40 (0.270.61)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.24Z-score
OE missense 0.81 (0.730.90)
276 obs / 340.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.40 (0.270.61)
00.351.4
Missense OE?0.81 (0.730.90)
00.61.4
Synonymous OE?1.06
01.21.6
LoF obs/exp: 15 / 37.7Missense obs/exp: 276 / 340.2Syn Z: -0.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CILK1 · 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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