H2AC13

Chr 6

H2A clustered histone 13

ENSG00000196747UniProt: P0C0S8

Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.85
LOEUF
—
Mechanism
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.85LOEUF
pLI 0.030
Z-score 0.18
OE 0.87 (0.33–1.85)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.56Z-score
OE missense 0.82 (0.67–1.01)
66 obs / 80.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.87 (0.33–1.85)
0≤0.351.4
Missense OE?0.82 (0.67–1.01)
0≤0.61.4
Synonymous OE?1.61
0≤1.21.6
LoF obs/exp: 2 / 2.3Missense obs/exp: 66 / 80.1Syn Z: -2.94

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

H2AC13 · 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