CFAP119

Chr 16

cilia and flagella associated protein 119

Also known as: C16orf93, CCDC189

NCBI Gene: 90835 ENSG00000196118 UniProt: A1A4V9 OMIM: 618318

CFAP119 encodes a protein predicted to function in sperm flagellum assembly and is part of the radial spoke structure within the axoneme. Mutations cause primary ciliary dyskinesia with or without situs inversus, an autosomal recessive disorder affecting respiratory function and ciliary motility. The gene shows minimal constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq

Predicted to act upstream of or within gene expression; single fertilization; and sperm flagellum assembly. Predicted to be located in acrosomal vesicle and sperm principal piece. Predicted to be part of radial spoke. Predicted to be active in axoneme. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 1.18

Clinical Summary— CFAP119

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.18LOEUF

pLI 0.000

Z-score 0.98

OE 0.75 (0.50–1.18)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.00Z-score

OE missense 1.00 (0.89–1.12)

197 obs / 197.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.75 (0.50–1.18)

0≤0.351.4

Missense OE?1.00 (0.89–1.12)

0≤0.61.4

Synonymous OE?0.92

0≤1.21.6

LoF obs/exp: 14 / 18.6Missense obs/exp: 197 / 197.2Syn Z: 0.58

This gene — mechanism propensity

0.6452th %ile

GOF

0.5661th %ile

LOF

0.3065th %ile

The highest-scoring mechanism for this gene is dominant-negative.

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.