BBIP1

Chr 10AR

BBSome interacting protein 1

Also known as: BBIP10, BBS18, NCRNA00081, bA348N5.3

NCBI Gene: 92482ENSG00000214413UniProt: A8MTZ0OMIM: 613605

This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Bardet-Biedl syndrome 18MIM #615995
AR

Clinical highlights

Gene-disease validity (ClinGen)
ciliopathy · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.57
LOEUF
LOF
Mechanism· G2P
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GeneReview available — BBIP1
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.57LOEUF
pLI 0.004
Z-score 0.62
OE 0.72 (0.35–1.57)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.52Z-score
OE missense 0.78 (0.59–1.03)
35 obs / 44.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.72 (0.35–1.57)
0≤0.351.4
Missense OE?0.78 (0.59–1.03)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 4 / 5.6Missense obs/exp: 35 / 44.8Syn Z: 0.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BBIP1 · 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
DECIPHER
Genomic variants and phenotypes in rare disease patients