H4C8

Chr 6

H4 clustered histone 8

Also known as: H4/h, H4FH, HIST1H4H

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 H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtTessadori-Bicknell-Van Haaften neurodevelopmental syndrome 1
UniProtTessadori-Bicknell-Van Haaften neurodevelopmental syndrome 2
UniProtTessadori-Bicknell-Van Haaften neurodevelopmental syndrome 3
UniProtTessadori-Bicknell-Van Haaften neurodevelopmental syndrome 4
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.96
LOEUF
Mechanism
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?
1.96LOEUF
pLI 0.000
Z-score -1.80
OE 2.17 (0.931.96)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.72Z-score
OE missense 1.60 (1.361.86)
105 obs / 65.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?2.17 (0.931.96)
00.351.4
Missense OE?1.60 (1.361.86)
00.61.4
Synonymous OE?2.94
01.21.6
LoF obs/exp: 6 / 2.8Missense obs/exp: 105 / 65.8Syn Z: -7.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

H4C8 · 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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