FASTKD1

Chr 2

FASTK mitochondrial RNA regulator 1

NCBI Gene: 79675 ENSG00000138399 UniProt: Q53R41 OMIM: 617529

Enables RNA binding activity. Involved in mitochondrial RNA metabolic process and regulation of mitochondrial mRNA stability. Located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

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

Background carrier burden — how many people carry a rare variant somewhere in FASTKD1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 52

1,017 rare PASS variants

Rare truncating (LoF)

1 in 490

221 rare PASS variants

Rare synonymous (reference)

1 in 110

345 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FASTKD1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 83	1 in 600
South Asian	~43k	1 in 59	1 in 470
Remaining (unassigned)	~30k	1 in 39	1 in 300
European (Finnish)	~27k	1 in 360	1 in 1,800
Admixed American	~22k	1 in 45	1 in 370
African / African American	~21k	1 in 74	1 in 250
East Asian	~20k	1 in 45	1 in 370
Ashkenazi Jewish	~13k	1 in 170	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 54	1 in 340

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 10 of 14 coding exons well covered in gnomAD exomes; exons 6, 9, 10, 14 marginal. Genomes: all 14.? see exons ↓