TUBE1

Chr 6

tubulin epsilon 1

Also known as: TUBE, dJ142L7.2

NCBI Gene: 51175 ENSG00000074935 UniProt: Q9UJT0

This gene encodes a member of the tubulin superfamily. This protein localizes to the centriolar sub-distal appendages that are associated with the older of the two centrioles after centrosome duplication. This protein plays a central role in organization of the microtubules during centriole duplication. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Jan 2009]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

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P/LP submissions

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P/LP missense

0.58

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance

LoF Constraint?

0.58LOEUF

pLI 0.027

Z-score 3.07

OE 0.31 (0.17–0.58)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.40Z-score

OE missense 0.93 (0.83–1.04)

232 obs / 249.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.31 (0.17–0.58)

0≤0.351.4

Missense OE?0.93 (0.83–1.04)

0≤0.61.4

Synonymous OE?0.85

0≤1.21.6

LoF obs/exp: 7 / 22.8Missense obs/exp: 232 / 249.7Syn Z: 1.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TUBE1 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Brain InfarctionIschemic StrokeThrombosis

Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Etiology, Triggers, and Outcome

ACTIVE NOT RECRUITING

NCT01934725SECRETO Study ConsortiumStarted 2013-11

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

Genomic variants and phenotypes in rare disease patients