H1-8

Chr 3AD

H1.8 linker histone

Also known as: H1.8, H1FOO, H1oo, osH1

NCBI Gene: 132243ENSG00000178804UniProt: Q8IZA3OMIM: 142210

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone 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. The protein encoded is a replication-independent histone that is a member of the histone H1 family. This gene contains introns, unlike most histone genes. The related mouse gene is expressed only in oocytes. [provided by RefSeq, Oct 2015]

OMIMResearchGenerating clinical summary…
ADLOEUF 0.971 OMIM phenotype
Clinical Summary— H1-8
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.07) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
62 VUS of 76 total submissions
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Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.97LOEUF
pLI 0.070
Z-score 1.64
OE 0.37 (0.17–0.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.37Z-score
OE missense 0.93 (0.82–1.05)
191 obs / 205.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.17–0.97)
0≤0.351.4
Missense OE?0.93 (0.82–1.05)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 3 / 8.0Missense obs/exp: 191 / 205.8Syn Z: -0.59

ClinVar Variant Classifications

76 submitted variants in ClinVar

ClinVar

Classification Summary

VUS62
Likely Benign12
62
VUS
12
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
62
0
0
62
Likely Benign
0
11
0
1
12
Benign
0
0
0
0
0
Total0730174

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

9 pathogenic / likely-pathogenic (of 13) ClinVar copy-number / structural variants overlap H1-8 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

H1-8 · protein map & ClinVar variants

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

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