ORM1

Chr 9

orosomucoid 1

Also known as: A1AG1, AGP-A, AGP1, HEL-S-153w, ORM

NCBI Gene: 5004 ENSG00000229314 UniProt: P02763

This gene encodes a key acute phase plasma protein. Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant. The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008]

Active trials

Pathogenic / LP

ClinVar variants

Pubs (1 yr)

-0.3

Missense Z

1.29

LOEUF

Clinical Summary— ORM1

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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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Clinical Trials

4 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.

1.29LOEUF

pLI 0.000

Z-score 0.84

OE 0.74 (0.45–1.29)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.

-0.34Z-score

OE missense 1.09 (0.94–1.27)

116 obs / 106.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.

LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.74 (0.45–1.29)

0≤0.351.4

Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.09 (0.94–1.27)

0≤0.61.4

Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.29

0≤1.21.6

LoF obs/exp: 9 / 12.2Missense obs/exp: 116 / 106.2Syn Z: -1.58

0.19100th %ile

GOF

0.6444th %ile

LOF

0.1399th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ORM1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

PPAPSpine Fusion

Personalized Perioperative Analgesia Platform (PPAP) for Pediatric Spine Fusion Surgery (sIRB)

RECRUITING

NCT05367609Phase NASenthil SadhasivamStarted 2022-09-20

Preoperative Genotyping

HypertensionMicrobiota

Exercise Training Influences Gut Microbiota and Cardiovascular Health Through Inflammation Control in Adult Hypertensive Population: the MicroFit Study

RECRUITING

NCT05967715Phase NAUniversity of BolognaStarted 2023-04-03

exercise trainingProbioticsPlacebo

AnalgesiaCardiac Surgery

Precision Analgesia for Cardiac Surgery

NOT YET RECRUITING

NCT05612399Kathirvel SubramaniamStarted 2026-04-01

PregnancyIron Deficiency

Efficacy and Adverse Side Effects of Two Forms of Iron in Pregnancy

RECRUITING

NCT06014983Phase NAUniversity of British ColumbiaStarted 2024-04-12

Ferrous fumarateFerrous bisglycinate