DNAI7

Chr 12

dynein axonemal intermediate chain 7

Also known as: CASC1, CFAP94, LAS1, PPP1R54

NCBI Gene: 55259ENSG00000118307UniProt: Q6TDU7

Predicted to enable beta-tubulin binding activity and microtubule binding activity. Predicted to be located in cilium and microtubule cytoskeleton. Predicted to be part of axonemal dynein complex. Predicted to be active in axoneme and cytoplasmic microtubule. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.96
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.96LOEUF
pLI 0.000
Z-score 1.77
OE 0.69 (0.51–0.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.83Z-score
OE missense 0.88 (0.80–0.96)
307 obs / 350.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.69 (0.51–0.96)
0≤0.351.4
Missense OE?0.88 (0.80–0.96)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 27 / 38.9Missense obs/exp: 307 / 350.5Syn Z: -0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DNAI7 · 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