HIRA

Histone cell cycle regulator P54198 HIRA_HUMAN
Protein Coding Chr 22 22q11.21 Swiss-Prot reviewed Entrez 7290
Mutations
904
CL 121 · Tissue 772
Samples
489
CL 81 · Tissue 402
Peptides
382
unique mutant peptides
Transcripts
2
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Total = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

TotalCell lineTissue
Mutations904121772
Samples48981402
Peptides38259326

Function

HIRA · Histone cell cycle regulator

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].

Isoforms & Proteins

2 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.

The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.

Counts are mutations and unique mutant peptides on each transcript.

TranscriptUniProtMutationsPeptides
ENST00000263208 P54198 519 373
ENST00000340170 P54198-2 385 287

Gene Properties

Type
Protein Coding
Chromosome
22
Cytoband
22q11.21
Entrez ID
Aliases
DGCR1TUP1TUPLE1

Recurrent Mutations

All 373 amino-acid changes on canonical ENST00000263208 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).

X-axis = amino-acid position in the protein.

Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.

The most recurrent changes are labelled; hover any needle for the change, position and counts.

Mutation frequency across cancer types

% of samples with a missense/complex mutation in HIRA · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HIRA – counted as distinct samples (a sample counts once no matter how many mutations it has).

Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.

Cancer typeCell linesTissue samples
T-Lymphoblastic Leukemia
5/40 12%
0/0 0%
Endometrial Carcinoma
6/42 14%
26/612 4%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Melanoma
7/210 3%
53/1899 3%
Other Solid Cancers
1/94 1%
41/1515 3%
Colorectal Carcinoma
16/143 11%
53/3239 2%
Non-Small Cell Lung Carcinoma
9/304 3%
21/1390 2%
Bladder Carcinoma
0/58 0%
17/956 2%
Gastric Carcinoma
2/74 3%
29/1809 2%
Pheochromocytoma and Paraganglioma
0/0 0%
1/71 1%
Cervical Carcinoma
0/35 0%
6/422 1%
Other Sarcomas
0/69 0%
9/699 1%
Squamous Cell Lung Carcinoma
1/57 2%
8/810 1%
Thyroid Gland Carcinoma
0/45 0%
17/1592 1%
Rhabdomyosarcoma
1/33 3%
1/171 1%
Biliary Tract Carcinoma
1/54 2%
8/950 1%
Head and Neck Carcinoma
3/85 4%
11/1574 1%
Neuroendocrine Tumour
4/154 3%
2/577 0%
Glioma
0/52 0%
17/2127 1%
Non-Cancerous
0/104 0%
7/830 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Medulloblastoma
0/0 0%
3/450 1%
Hepatocellular Carcinoma
2/46 4%
13/2210 1%
Esophageal Carcinoma
0/23 0%
5/769 1%
Ewings Sarcoma
0/63 0%
2/262 1%
Esophageal Squamous Cell Carcinoma
5/51 10%
10/2550 0%
Plasma Cell Myeloma
2/44 5%
0/305 0%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Prostate Carcinoma
0/13 0%
11/2105 1%

Mutation Distribution

Where HIRA is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in HIRA were found in each tissue, across the whole database.

Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.

This shows the cancer-context where this gene is recurrently altered.

GTEx Expression

Median TPM across 54 healthy tissues

GTEx Portal ↗
About the expression data
GTEx Expression

Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.

Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.

Scroll or drag the mini-axis below the chart to browse all tissues.

Mutations

All 904 mutations in HIRA

About the mutation list
Mutations

Every mutation record for this gene, across all samples and sources.

The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).

Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide