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histone cell cycle regulator
Also known as: DGCR1, TUP1, TUPLE1
This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
0 submitted variants in ClinVar
HIRA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
Links to major genomics databases and tools
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Links to major genomics databases and tools
Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for HIRA. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.
| Group | People | Missense | Truncating |
|---|---|---|---|
| European (non-Finnish) | ~556k | 1 in 110 | 1 in 4,200 |
| South Asian | ~43k | 1 in 70 | ≈ 1 in 10,000 |
| Remaining (unassigned) | ~30k | 1 in 74 | ≈ 1 in 14,000 |
| European (Finnish) | ~27k | 1 in 240 | 1 in 3,800 |
| Admixed American | ~22k | 1 in 71 | ≈ 1 in 5,100 |
| African / African American | ~21k | 1 in 81 | ≈ 1 in 21,000 |
| East Asian | ~20k | 1 in 67 | ≈ 1 in 16,000 |
| Ashkenazi Jewish | ~13k | 1 in 140 | none seen |
| Middle Eastern | ~2,884 | 1 in 84 | none seen |
Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.
This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]