CORO1A

Chr 16AR

coronin 1A

Also known as: CLABP, CLIPINA, HCORO1, IMD8, TACO, p57

NCBI Gene: 11151ENSG00000102879UniProt: P31146

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. A related pseudogene has been defined on chromosome 16. [provided by RefSeq, Sep 2010]

Primary Disease Associations & Inheritance

Immunodeficiency 8MIM #615401
AR
560
ClinVar variants
191
Pathogenic / LP
0.97
pLI score· haploinsufficient
0
Active trials
Clinical Summary— CORO1A
🧬
Gene-Disease Validity (ClinGen)
severe combined immunodeficiency due to CORO1A deficiency · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.97). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
191 Pathogenic / Likely Pathogenic· 145 VUS of 560 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
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.
0.32LOEUF
pLI 0.970
Z-score 3.69
OE 0.10 (0.04–0.32)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

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.
2.48Z-score
OE missense 0.58 (0.51–0.66)
162 obs / 278.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

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.0.10 (0.04–0.32)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.58 (0.51–0.66)
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.1.22
0≤1.21.6
LoF obs/exp: 2 / 19.7Missense obs/exp: 162 / 278.2Syn Z: -1.85

ClinVar Variant Classifications

560 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic157
Likely Pathogenic34
VUS145
Likely Benign212
Benign9
Conflicting3
157
Pathogenic
34
Likely Pathogenic
145
VUS
212
Likely Benign
9
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
4
2
151
0
157
Likely Pathogenic
7
2
25
0
34
VUS
3
123
17
2
145
Likely Benign
0
2
84
126
212
Benign
0
0
5
4
9
Conflicting
—3
Total14129282132560

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

View in ClinVar →

Protein Context — Lollipop Plot

CORO1A · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
CORONIN 1A; CORO1A
MIM #605000 · *

Immunodeficiency 8

MIM #615401

Molecular basis of disorder known

Autosomal recessive
📖
GeneReview available — CORO1A
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
TRIM4 enhances small-molecule-induced neddylated-degradation of CORO1A for triple negative breast cancer therapy.
Gu WJ et al.·Theranostics
2024
Classification of triple-negative breast cancers based on Immunogenomic profiling.
He Y et al.·J Exp Clin Cancer Res
2018
Characterizing hub biomarkers for post-transplant renal fibrosis and unveiling their immunological functions through RNA sequencing and advanced machine learning techniques.
Niu X et al.·J Transl Med
2024
When to suspect inborn errors of immunity in Epstein-Barr virus-related lymphoproliferative disorders.
Sacco KA et al.·Clin Microbiol Infect
2023Review
Coronin 1a-mediated F-actin disassembly controls effector function in murine neutrophils.
Shaverskyi A et al.·Redox Biol
2025
Genome-wide gene by sleepiness interaction analysis for sleep apnea.
Nagarajan P et al.·Sleep
2026
Re-evaluation of epidermodysplasia verruciformis: Reconciling more than 90 years of debate.
Przybyszewska J et al.·J Am Acad Dermatol
2017Review
Tumor extracellular vesicles mediate anti-PD-L1 therapy resistance by decoying anti-PD-L1.
Chen J et al.·Cell Mol Immunol
2022
A novel classification method for LUAD that guides personalized immunotherapy on the basis of the cross-talk of coagulation- and macrophage-related genes.
Li Z et al.·Front Immunol
2025
Innovative breakthroughs facilitated by single-cell multi-omics: manipulating natural killer cell functionality correlates with a novel subcategory of melanoma cells.
Zhao Z et al.·Front Immunol
2023Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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