CIMAP1B

Chr 22

ciliary microtubule associated protein 1B

Also known as: FAP123, ODF3B, ODF3L3

NCBI Gene: 440836ENSG00000177989UniProt: A8MYP8

The CIMAP1B protein is predicted to localize to motile cilia and function in cytoskeletal organization. Mutations cause autosomal recessive disorders affecting ciliary function, though specific phenotypes are not well-characterized. The gene shows tolerance to loss-of-function variants (pLI = 0.005, LOEUF = 1.11), consistent with recessive inheritance.

ResearchSummary from RefSeq
LOEUF 1.10
Clinical Summary— CIMAP1B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
144 unique Pathogenic / Likely Pathogenic· 51 VUS of 204 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.10LOEUF
pLI 0.005
Z-score 1.35
OE 0.53 (0.27–1.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.89Z-score
OE missense 0.77 (0.65–0.92)
91 obs / 118.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.53 (0.27–1.10)
0≤0.351.4
Missense OE0.77 (0.65–0.92)
0≤0.61.4
Synonymous OE0.97
0≤1.21.6
LoF obs/exp: 5 / 9.5Missense obs/exp: 91 / 118.3Syn Z: 0.16

ClinVar Variant Classifications

204 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic143
Likely Pathogenic1
VUS51
Likely Benign2
Benign2
143
Pathogenic
1
Likely Pathogenic
51
VUS
2
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
143
0
143
Likely Pathogenic
0
0
1
0
1
VUS
0
37
14
0
51
Likely Benign
0
0
2
0
2
Benign
0
0
2
0
2
Total0371620199

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CIMAP1B · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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