BCOR

Chr XXLD

BCL6 corepressor

Also known as: ANOP2, MAA2, MCOPS2

NCBI Gene: 54880ENSG00000183337UniProt: Q6W2J9OMIM: 300485

BCOR encodes a transcriptional corepressor that inhibits gene expression by recruiting histone deacetylases to promoter regions and regulating chromatin modifications. X-linked dominant mutations cause microphthalmia, syndromic 2, affecting eye development and other systems. The gene is highly constrained against loss-of-function variation (pLI 1.0, LOEUF 0.14), indicating intolerance to protein-truncating variants.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismXLDLOEUF 0.141 OMIM phenotype
Clinical Summary— BCOR
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Gene-Disease Validity (ClinGen)
microphthalmia, syndromic 2 · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Clinical Trials
8 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.14LOEUF
pLI 1.000
Z-score 5.91
OE 0.04 (0.02–0.14)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint
1.88Z-score
OE missense 0.81 (0.75–0.86)
601 obs / 745.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.04 (0.02–0.14)
0≤0.351.4
Missense OE0.81 (0.75–0.86)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 2 / 44.6Missense obs/exp: 601 / 745.4Syn Z: -0.60
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveBCOR-related syndromic microphthalmiaLOFmonoallelic_X_heterozygous
DN
0.18100th %ile
GOF
0.2298th %ile
LOF
0.88top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.14

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BCOR · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Bone Marrow Failure DisordersVEXAS SyndromeHemoglobinurea, Paroxysmal

Molecular and Clinical Analysis of Bone Marrow Failure: A Secondary Research Study

ENROLLING BY INVITATION
NCT07102849National Heart, Lung, and Blood Institute (NHLBI)Started 2025-09-09
AMLMDS

Molecular Genetics Guide the Maintenance Therapy After Allogeneic Hematopoietic Stem Cell Transplantation

RECRUITING
NCT06972641Phase PHASE2, PHASE3Ruijin HospitalStarted 2025-06-10
DecitabineSorafenib (BAY-43-9006)，giritinibAvastinib
AstroblastomaBCOR ITD SarcomaCNS Sarcoma

International Rare Brain Tumor Registry

RECRUITING
NCT05697874Children's National Research InstituteStarted 2023-01-01
Congenital CataractTooth AbnormalitiesOcular Pathologies

Associations Between Dental Anomalies and Ocular, Cutaneous and Skin Appendages Features

NOT YET RECRUITING
NCT06950619Phase NAUniversity of PaviaStarted 2026-02
Whole Genome SequencingCephalometric tracing
Wilms TumorRhabdoid TumorMalignant Peripheral Nerve Sheath Tumors

A Study of Selinexor in People With Wilms Tumors and Other Solid Tumors

RECRUITING
NCT05985161Phase PHASE2Memorial Sloan Kettering Cancer CenterStarted 2023-08-01
Selinexor
Acute Lymphocytic Leukemia

BCOR and ZC3H12 Genes Knock-out CD19-targeting CAR-T Cell Therapy in r/r B-ALL

RECRUITING
NCT07008885Phase PHASE1, PHASE2Chinese PLA General HospitalStarted 2025-06-20
CAR19TIF cellsFludarabineCyclophosphamide
B Cell Lymphoma

BCOR and ZC3H12 Genes Knock-out CD19-targeting CAR-T Cell Therapy in r/r B Cell Lymphoma

RECRUITING
NCT07009002Phase PHASE1, PHASE2Chinese PLA General HospitalStarted 2025-06-20
CAR19TIF cellsFludarabineCyclophosphamide
Chronic Myeloid Leukemia, Chronic PhaseWithdrawal;Drug

Efficacy and Safety of TKIs' Withdrawal After a Two-step Dose Reduction in Patients with Chronic Myeloid Leukemia

ACTIVE NOT RECRUITING
NCT04147533Phase PHASE2Masaryk UniversityStarted 2020-06-16
Imatinib withdrawalDasatinibNilotinib
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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