AIM2

Chr 1

absent in melanoma 2

Also known as: PYHIN4

NCBI Gene: 9447 ENSG00000163568 UniProt: O14862 OMIM: 604578

AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.64

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.64LOEUF

pLI 0.000

Z-score -0.14

OE 1.04 (0.68–1.64)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.60Z-score

OE missense 0.88 (0.77–1.00)

165 obs / 188.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.04 (0.68–1.64)

0≤0.351.4

Missense OE?0.88 (0.77–1.00)

0≤0.61.4

Synonymous OE?0.98

0≤1.21.6

LoF obs/exp: 13 / 12.5Missense obs/exp: 165 / 188.2Syn Z: 0.12

Background carrier burden — how many people carry a rare variant somewhere in AIM2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 190

383 rare PASS variants

Rare truncating (LoF)

1 in 910

75 rare PASS variants

Rare synonymous (reference)

1 in 220

148 rare PASS variants

Rare missense and truncating variants are carried at similar rates in AIM2; this gene does not show strong loss-of-function constraint by this measure. 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 270	1 in 1,000
South Asian	~43k	1 in 150	1 in 540
Remaining (unassigned)	~30k	1 in 140	1 in 730
European (Finnish)	~27k	1 in 380	1 in 5,300
Admixed American	~22k	1 in 200	1 in 560
African / African American	~21k	1 in 190	1 in 1,700
East Asian	~20k	1 in 120	1 in 830
Ashkenazi Jewish	~13k	1 in 2,200	≈ 1 in 5,500
Middle Eastern	~2,884	1 in 240	none seen

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): All 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓