RHOBTB1

Chr 10

Rho related BTB domain containing 1

NCBI Gene: 9886ENSG00000072422UniProt: O94844

The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

ResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.60
LOEUF
Multiple*
Mechanism· predicted
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?
0.60LOEUF
pLI 0.000
Z-score 3.30
OE 0.37 (0.24–0.60)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.55Z-score
OE missense 0.79 (0.72–0.86)
329 obs / 418.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.24–0.60)
0≤0.351.4
Missense OE?0.79 (0.72–0.86)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 12 / 32.2Missense obs/exp: 329 / 418.5Syn Z: 0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RHOBTB1 · 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