CFAP144

Chr 1

cilia and flagella associated protein 144

Also known as: FAM183A

NCBI Gene: 440585ENSG00000186973UniProt: A6NL82OMIM: 621114

The protein is a microtubule inner protein component of dynein-decorated doublet microtubules in cilia axonemes that is required for motile cilia beating and flagellated sperm motility. Mutations cause primary ciliary dyskinesia with male infertility, inherited in an autosomal recessive pattern. This affects the respiratory system, fertility, and potentially other organs with motile cilia.

OMIMResearchSummary from RefSeq, UniProt
MultiplemechanismLOEUF 1.15
Clinical Summary— CFAP144
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.04) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
11 unique Pathogenic / Likely Pathogenic· 16 VUS of 38 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.15LOEUF
pLI 0.042
Z-score 1.32
OE 0.45 (0.20–1.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.05Z-score
OE missense 0.98 (0.81–1.20)
72 obs / 73.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.45 (0.20–1.15)
0≤0.351.4
Missense OE0.98 (0.81–1.20)
0≤0.61.4
Synonymous OE0.82
0≤1.21.6
LoF obs/exp: 3 / 6.7Missense obs/exp: 72 / 73.2Syn Z: 0.74
DN
0.7131th %ile
GOF
0.80top 10%
LOF
0.3162th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

38 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic1
VUS16
Likely Benign2
Benign1
Conflicting1
10
Pathogenic
1
Likely Pathogenic
16
VUS
2
Likely Benign
1
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
1
0
1
VUS
1
11
4
0
16
Likely Benign
0
2
0
0
2
Benign
1
0
0
0
1
Conflicting
—1
Total21315031

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

View in ClinVar →

Protein Context — Lollipop Plot

CFAP144 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
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