KIAA0040

Chr 1

KIAA0040

Also known as: IAMP

NCBI Gene: 9674ENSG00000235750UniProt: Q15053OMIM: 616696

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.53
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.53LOEUF
pLI 0.201
Z-score 0.99
OE 0.36 (0.13–1.53)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.03Z-score
OE missense 0.58 (0.42–0.80)
27 obs / 46.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.13–1.53)
0≤0.351.4
Missense OE?0.58 (0.42–0.80)
0≤0.61.4
Synonymous OE?1.16
0≤1.21.6
LoF obs/exp: 1 / 2.8Missense obs/exp: 27 / 46.8Syn Z: -0.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KIAA0040 · 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