HES6

Hes family bHLH transcription factor 6 Q96HZ4 HES6_HUMAN
Protein Coding Chr 2 2q37.3 Swiss-Prot reviewed Entrez 55502
Mutations
306
CL 37 · Tissue 244
Samples
101
CL 26 · Tissue 73
Peptides
119
unique mutant peptides
Transcripts
6
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
Mutations30637244
Samples1012673
Peptides1192492

Function

HES6 · Hes family bHLH transcription factor 6

This gene encodes a member of a subfamily of basic helix-loop-helix transcription repressors that have homology to the Drosophila enhancer of split genes. Members of this gene family regulate cell differentiation in numerous cell types. The protein encoded by this gene functions as a cofactor, interacting with other transcription factors through a tetrapeptide domain in its C-terminus. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Dec 2008].

Isoforms & Proteins

6 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
ENST00000272937 Q96HZ4 93 69
ENST00000409002 Q96HZ4-3 71 53
ENST00000409182 B9A070* 68 50
ENST00000409160 Q96HZ4-2 36 33
ENST00000409574 Q96HZ4-4 23 20
ENST00000409356 B8ZZP9* 15 14

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2q37.3
Entrez ID
Aliases
C-HAIRY1HES-6bHLHb41bHLHc23

Recurrent Mutations

All 69 amino-acid changes on canonical ENST00000272937 · 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 HES6 · 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 HES6 – 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
Chordoma
1/7 14%
0/13 0%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Non-Small Cell Lung Carcinoma
3/304 1%
6/1390 0%
Colorectal Carcinoma
4/143 3%
12/3239 0%
Thyroid Gland Carcinoma
0/45 0%
7/1592 0%
Gastric Carcinoma
1/74 1%
7/1809 0%
Small Cell Lung Carcinoma
2/9 22%
1/752 0%
Melanoma
1/210 0%
7/1899 0%
Non-Cancerous
0/104 0%
3/830 0%
Other Solid Cancers
0/94 0%
5/1515 0%
Endometrial Carcinoma
2/42 5%
0/612 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Hepatocellular Carcinoma
0/46 0%
6/2210 0%
Neuroendocrine Tumour
2/154 1%
0/577 0%
Other Sarcomas
1/69 1%
1/699 0%
Head and Neck Carcinoma
1/85 1%
3/1574 0%
Esophageal Squamous Cell Carcinoma
3/51 6%
3/2550 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Breast Carcinoma
2/144 1%
2/3264 0%
Bladder Carcinoma
0/58 0%
1/956 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Ovarian Carcinoma
0/109 0%
1/998 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
2/2534 0%
B-Lymphoblastic Leukemia
1/55 2%
1/2640 0%
Pancreatic Carcinoma
0/89 0%
1/1611 0%
Prostate Carcinoma
0/13 0%
1/2105 0%
Kidney Carcinoma
0/85 0%
1/1862 0%
Other Blood Cancers
1/61 2%
0/2725 0%

Mutation Distribution

Where HES6 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in HES6 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 306 mutations in HES6

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