CLASP1

Chr 2

cytoplasmic linker associated protein 1

Also known as: MAST1

NCBI Gene: 23332 ENSG00000074054 UniProt: Q7Z460 OMIM: 605852

CLASP1 encodes a microtubule plus-end tracking protein that stabilizes dynamic microtubules and is essential for proper chromosome alignment during cell division. The gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.176), suggesting mutations would likely cause severe developmental consequences. However, no specific genetic disorders have been definitively associated with CLASP1 mutations in humans to date.

OMIM ResearchSummary from RefSeq, UniProt

CLASPs, such as CLASP1, are nonmotor microtubule-associated proteins that interact with CLIPs (e.g., CLIP170; MIM 179838). CLASP1 is involved in the regulation of microtubule dynamics at the kinetochore and throughout the spindle (Maiato et al., 2003 [PubMed 12837247]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.18

Clinical Summary— CLASP1

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Dual constrained — LoF & missense intolerant

LoF Constraint?

0.18LOEUF

pLI 1.000

Z-score 7.86

OE 0.10 (0.06–0.18)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

3.61Z-score

OE missense 0.65 (0.61–0.70)

560 obs / 857.8 exp

Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?

LoF OE?0.10 (0.06–0.18)

0≤0.351.4

Missense OE?0.65 (0.61–0.70)

0≤0.61.4

Synonymous OE?0.98

0≤1.21.6

LoF obs/exp: 9 / 89.0Missense obs/exp: 560 / 857.8Syn Z: 0.30

This gene — mechanism propensity

0.4587th %ile

GOF

0.4184th %ile

LOF

0.75top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.18

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.