BCORL1

Chr XXLR

BCL6 corepressor like 1

Also known as: BCoR-L1, CXorf10, SHUVER

NCBI Gene: 63035ENSG00000085185UniProt: Q5H9F3OMIM: 300688

BCORL1 encodes a transcriptional corepressor that inhibits gene expression by recruiting histone deacetylases to promoter regions when tethered by DNA-binding proteins. X-linked recessive mutations cause Shukla-Vernon syndrome. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.15), indicating that complete loss of function is likely incompatible with normal development.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismXLRLOEUF 0.151 OMIM phenotype
Clinical Summary— BCORL1
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Gene-Disease Validity (ClinGen)
Shukla-Vernon syndrome · XLLimited

Limited evidence — not for standalone diagnostic reporting

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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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ClinVar Variants
15 unique Pathogenic / Likely Pathogenic· 190 VUS of 500 total submissions
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
0.15LOEUF
pLI 1.000
Z-score 5.67
OE 0.05 (0.02–0.15)
Highly constrained

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

Missense Constraint
2.06Z-score
OE missense 0.79 (0.73–0.84)
581 obs / 738.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.05 (0.02–0.15)
0≤0.351.4
Missense OE0.79 (0.73–0.84)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 2 / 41.4Missense obs/exp: 581 / 738.8Syn Z: 1.02
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
limitedBCORL1-related Shukla-Vernon syndromeOTHERXLR
DN
0.15100th %ile
GOF
0.1899th %ile
LOF
0.88top 5%

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

LOFprediction above median · LOEUF 0.15

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

500 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
Likely Pathogenic1
VUS190
Likely Benign35
14
Pathogenic
1
Likely Pathogenic
190
VUS
35
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
2
12
0
14
Likely Pathogenic
0
0
1
0
1
VUS
4
178
6
2
190
Likely Benign
0
15
1
19
35
Benign
0
0
0
0
0
Total41952021240

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

View in ClinVar →

Protein Context — Lollipop Plot

BCORL1 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →
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
Epigenetic corepressor BCORL1 predominates as a driver of clonal hematopoiesis of indeterminate potential in patients undergoing chronic hemodialysis: a multicenter cohort study.
Wang KC et al.·Hum Genomics
2026Open AccessCohort
BCOR, BCORL1, and BCL6 Mutations in Pediatric Leukemias.
Fisher-Heath TC et al.·Cancers (Basel)
2025Open Access
CNS Tumor with BCOR/BCORL1 Fusion: A Rare Tumor Entity.
Lou J et al.·Int J Mol Sci
2025Open Access
The association between XRCC2 and BCORL1 expression with sperm DNA fragmentation index in infertile men candidates undergoing intracytoplasmic sperm injection (ICSI).
Paknejad R et al.·Tissue Cell
2025
Impact of BCOR/BCORL1 mutation on outcomes of allogeneic hematopoietic stem cell transplantation in acute myeloid leukemia patients.
Zhou Y et al.·Ann Hematol
2025Open AccessCohort
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