GLCCI1

Chr 7

glucocorticoid induced 1

ENSG00000106415 UniProt: Q86VQ1 OMIM: 614283

This gene encodes a protein of unknown function that is induced by glucocorticoids and may serve as an early marker for glucocorticoid-induced apoptosis. Polymorphisms in GLCCI1 are associated with decreased response to inhaled glucocorticoid therapy in asthmatic patients. The gene is highly constrained against loss-of-function variants (LOEUF 0.575), suggesting an important biological role despite its unknown function.

OMIM ResearchSummary from RefSeq, OMIM

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 0.571 OMIM phenotype

Clinical Summary— GLCCI1

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.29) despite low pLI — interpret in context.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.57LOEUF

pLI 0.059

Z-score 2.98

OE 0.29 (0.16–0.57)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.13Z-score

OE missense 0.98 (0.88–1.08)

253 obs / 259.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.29 (0.16–0.57)

0≤0.351.4

Missense OE?0.98 (0.88–1.08)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 6 / 20.6Missense obs/exp: 253 / 259.0Syn Z: 0.40

This gene — mechanism propensity

0.6356th %ile

GOF

0.6151th %ile

LOF

0.62top 25%

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction 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.