FASTKD1

Chr 2

FASTK mitochondrial RNA regulator 1

NCBI Gene: 79675ENSG00000138399UniProt: Q53R41OMIM: 617529

Enables RNA binding activity. Involved in mitochondrial RNA metabolic process and regulation of mitochondrial mRNA stability. Located in mitochondrion and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.37
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.37LOEUF
pLI 0.000
Z-score -0.35
OE 1.06 (0.83–1.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.55Z-score
OE missense 0.93 (0.85–1.00)
400 obs / 432.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.06 (0.83–1.37)
0≤0.351.4
Missense OE?0.93 (0.85–1.00)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 42 / 39.6Missense obs/exp: 400 / 432.4Syn Z: -0.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FASTKD1 · 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