HAUS1

Chr 18

HAUS augmin like complex subunit 1

Also known as: CCDC5, HEI-C, HEIC, HsT1461

NCBI Gene: 115106ENSG00000152240UniProt: Q96CS2

HAUS1 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.30
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.30LOEUF
pLI 0.000
Z-score 0.67
OE 0.82 (0.53–1.30)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.06Z-score
OE missense 1.01 (0.89–1.17)
144 obs / 142.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.82 (0.53–1.30)
0≤0.351.4
Missense OE?1.01 (0.89–1.17)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 13 / 15.9Missense obs/exp: 144 / 142.0Syn Z: -0.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HAUS1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients