CIBAR1

Chr 8AR

CBY1 interacting BAR domain containing 1

Also known as: BARMR1, FAM92A, FAM92A1, PAPA9

NCBI Gene: 137392ENSG00000188343UniProt: A1XBS5OMIM: 617273

Enables phospholipid binding activity. Involved in several processes, including inner mitochondrial membrane organization; limb morphogenesis; and membrane tubulation. Located in several cellular components, including centriole; ciliary base; and mitochondrial crista. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Polydactyly, postaxial, type A9MIM #618219
AR
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.10
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.10LOEUF
pLI 0.000
Z-score 1.21
OE 0.71 (0.47–1.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.97Z-score
OE missense 0.77 (0.66–0.91)
113 obs / 145.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.71 (0.47–1.10)
0≤0.351.4
Missense OE?0.77 (0.66–0.91)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 14 / 19.8Missense obs/exp: 113 / 145.9Syn Z: 0.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CIBAR1 · 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