H2AC7

Chr 6

H2A clustered histone 7

Also known as: H2A.3, H2A/g, H2AFG, HIST1H2AD

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.95
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.95LOEUF
pLI 0.000
Z-score -1.23
OE 1.71 (0.821.95)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.02Z-score
OE missense 1.64 (1.421.89)
129 obs / 78.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.71 (0.821.95)
00.351.4
Missense OE?1.64 (1.421.89)
00.61.4
Synonymous OE?2.68
01.21.6
LoF obs/exp: 6 / 3.5Missense obs/exp: 129 / 78.5Syn Z: -8.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

H2AC7 · 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.

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