Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
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.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 1,584 | 186 | 1,356 |
| Samples | 511 | 101 | 398 |
| Peptides | 375 | 78 | 306 |
Function
HAS1 · Hyaluronan synthase 1
Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014].
Isoforms & Proteins
4 transcripts · UniProt mapping is sequence-verified (AA-safe)
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.
Gene Properties
Recurrent Mutations
All 323 amino-acid changes on canonical ENST00000540069 · needle height = samples · drag the mini-map to zoom
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 HAS1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HAS1 – 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 type | Cell lines | Tissue samples |
|---|---|---|
| T-Lymphoblastic Leukemia | 6/40 15% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Endometrial Carcinoma | 6/42 14% | 21/612 3% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Colorectal Carcinoma | 14/143 10% | 87/3239 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Gastric Carcinoma | 1/74 1% | 38/1809 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Melanoma | 4/210 2% | 36/1899 2% |
| Non-Small Cell Lung Carcinoma | 14/304 5% | 15/1390 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 11/810 1% |
| Neuroendocrine Tumour | 6/154 4% | 5/577 1% |
| Biliary Tract Carcinoma | 4/54 7% | 11/950 1% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Bladder Carcinoma | 2/58 3% | 11/956 1% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Non-Cancerous | 0/104 0% | 10/830 1% |
| Esophageal Carcinoma | 1/23 4% | 7/769 1% |
| Other Solid Cancers | 0/94 0% | 15/1515 1% |
| Hepatocellular Carcinoma | 1/46 2% | 19/2210 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 11/1592 1% |
| Other Sarcomas | 1/69 1% | 5/699 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 19/2550 1% |
| Head and Neck Carcinoma | 1/85 1% | 10/1574 1% |
Mutation Distribution
Where HAS1 is mutated · all tissues, split by cell line vs tissue
How many mutations in HAS1 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
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 1,584 mutations in HAS1
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.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|