HMHB1

Chr 5

histocompatibility minor HB-1

Also known as: HB-1, HB-1Y, HLA-HB1

NCBI Gene: 57824ENSG00000158497UniProt: O97980OMIM: 609961

This gene encodes one of the minor histocompatibility antigens, which play an important role in the induction of cytotoxic T lymphocyte (CTL) reactivity against leukemia after human histocompatibility leukocyte antigen (HLA)-identical allogeneic bone marrow transplantation (BMT). This gene is only expressed in B cell acute lymphoblastic leukemia cells and Epstein-Barr virus-transformed B cells. The translation of this mRNA initiates at a non-AUG (CUG) codon. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.96
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.96LOEUF
pLI 0.009
Z-score -2.06
OE 4.22 (0.63–1.96)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.47Z-score
OE missense 1.30 (0.94–1.78)
25 obs / 19.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?4.22 (0.63–1.96)
0≤0.351.4
Missense OE?1.30 (0.94–1.78)
0≤0.61.4
Synonymous OE?1.28
0≤1.21.6
LoF obs/exp: 2 / 0.5Missense obs/exp: 25 / 19.2Syn Z: -0.65

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

HMHB1 · protein map & ClinVar variants

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

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients