HMBOX1

Homeobox containing 1 Q6NT76 HMBX1_HUMAN
Protein Coding Chr 8 8p21.1-p12 Swiss-Prot reviewed Entrez 79618
Mutations
889
CL 99 · Tissue 785
Samples
156
CL 29 · Tissue 124
Peptides
143
unique mutant peptides
Transcripts
7
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
Mutations88999785
Samples15629124
Peptides14325118

Function

HMBOX1 · Homeobox containing 1

Enables double-stranded telomeric DNA binding activity; identical protein binding activity; and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II; positive regulation of telomerase activity; and positive regulation of telomere maintenance via telomerase. Located in several cellular components, including centrosome; chromosome, telomeric region; and nuclear body. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

7 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
ENST00000287701 Q6NT76 149 115
ENST00000524238 Q6NT76-5 138 115
ENST00000397358 Q6NT76 129 107
ENST00000558662 Q6NT76-2 125 103
ENST00000523613 H0YKJ1* 118 97
ENST00000355231 E5RGZ2* 115 94
ENST00000519047 E5RGZ2* 115 94

Gene Properties

Type
Protein Coding
Chromosome
8
Cytoband
8p21.1-p12
Entrez ID
Aliases
HNF1LAHOT1PBHNFTAH1

Recurrent Mutations

All 115 amino-acid changes on canonical ENST00000287701 · 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 HMBOX1 · 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 HMBOX1 – 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
Endometrial Carcinoma
6/42 14%
14/612 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Chondrosarcoma
0/14 0%
1/75 1%
Glioblastoma
1/98 1%
0/0 0%
Melanoma
2/210 1%
18/1899 1%
Burkitts Lymphoma
2/32 6%
0/196 0%
Bladder Carcinoma
0/58 0%
7/956 1%
Colorectal Carcinoma
7/143 5%
16/3239 0%
Cervical Carcinoma
0/35 0%
3/422 1%
Gastric Carcinoma
0/74 0%
12/1809 1%
Glioma
0/52 0%
9/2127 0%
Other Sarcomas
0/69 0%
3/699 0%
Hepatocellular Carcinoma
0/46 0%
7/2210 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Ovarian Carcinoma
1/109 1%
2/998 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Other Solid Cancers
2/94 2%
2/1515 0%
Head and Neck Carcinoma
1/85 1%
3/1574 0%
Squamous Cell Lung Carcinoma
0/57 0%
2/810 0%
Non-Cancerous
0/104 0%
2/830 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
3/2550 0%
Neuroendocrine Tumour
0/154 0%
1/577 0%
Prostate Carcinoma
2/13 15%
1/2105 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
Thyroid Gland Carcinoma
0/45 0%
2/1592 0%
Non-Small Cell Lung Carcinoma
0/304 0%
2/1390 0%
Kidney Carcinoma
0/85 0%
2/1862 0%
Breast Carcinoma
0/144 0%
3/3264 0%

Mutation Distribution

Where HMBOX1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in HMBOX1 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 889 mutations in HMBOX1

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