H3C12

Chr 6

H3 clustered histone 12

Also known as: H3/j, H3FJ, HIST1H3J

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtGlioma

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.00
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
1.00LOEUF
pLI 0.606
Z-score 1.59
OE 0.00 (0.001.00)
Moderately constrained

Highly tolerant — LoF variants common in population

Missense Constraint?
1.27Z-score
OE missense 0.61 (0.490.77)
52 obs / 84.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.001.00)
00.351.4
Missense OE?0.61 (0.490.77)
00.61.4
Synonymous OE?1.29
01.21.6
LoF obs/exp: 0 / 2.9Missense obs/exp: 52 / 84.8Syn Z: -1.36

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

H3C12 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →