H4C1

Chr 6

H4 clustered histone 1

Also known as: H4FA, HIST1H4A

NCBI Gene: 8359ENSG00000278637UniProt: P62805

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]

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
26
ClinVar variants
6
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— H4C1
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 18 VUS of 26 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

26 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic1
VUS18
Likely Benign2
5
Pathogenic
1
Likely Pathogenic
18
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
1
0
1
VUS
0
13
5
0
18
Likely Benign
0
0
2
0
2
Benign
0
0
0
0
0
Total01313026

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

View in ClinVar →

Protein Context — Lollipop Plot

H4C1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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