AIRIM

Chr 1

AFG2 interacting ribosome maturation factor

Also known as: C1orf109

NCBI Gene: 54955 ENSG00000116922 UniProt: Q9NX04 OMIM: 614799

The protein is part of the 55LCC ATPase complex that maintains DNA replication fork progression and genome stability, and also facilitates cytoplasmic maturation of ribosomal subunits. Mutations in AIRIM cause autosomal recessive developmental delay with seizures and microcephaly, typically presenting in early infancy. The gene shows minimal constraint against loss-of-function variants (pLI <0.001), consistent with the recessive inheritance pattern observed clinically.

OMIM ResearchSummary from RefSeq, UniProt

Involved in ribosomal large subunit biogenesis. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.40

Clinical Summary— AIRIM

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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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ClinVar Variants

1 VUS of 7 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.40LOEUF

pLI 0.000

Z-score 0.57

OE 0.82 (0.51–1.40)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.27Z-score

OE missense 0.93 (0.79–1.09)

104 obs / 112.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.82 (0.51–1.40)

0≤0.351.4

Missense OE?0.93 (0.79–1.09)

0≤0.61.4

Synonymous OE?0.81

0≤1.21.6

LoF obs/exp: 10 / 12.1Missense obs/exp: 104 / 112.2Syn Z: 1.05

ClinVar Variant Classifications

7 submitted variants in ClinVar

ClinVar

Classification Summary

VUS1

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	1	1
Likely Benign	0	0
Benign	0	0
Total	1	1

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

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5 pathogenic / likely-pathogenic (of 11) ClinVar copy-number / structural variants overlap AIRIM — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →