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 | 86 | 13 | 72 |
| Samples | 84 | 13 | 70 |
| Peptides | 55 | 10 | 48 |
Function
DEFA5 · Defensin alpha 5
Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014].
Isoforms & Proteins
1 transcript · 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000330590 | Q01523 | 86 | 55 |
Gene Properties
Recurrent Mutations
All 55 amino-acid changes on canonical ENST00000330590 · 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 DEFA5 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DEFA5 – 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 |
|---|---|---|
| Glioblastoma | 1/98 1% | 0/0 0% |
| Melanoma | 1/210 0% | 13/1899 1% |
| Colorectal Carcinoma | 2/143 1% | 17/3239 1% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Other Solid Cancers | 0/94 0% | 6/1515 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 1/810 0% |
| Gastric Carcinoma | 0/74 0% | 6/1809 0% |
| Endometrial Carcinoma | 1/42 2% | 1/612 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 2/1390 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Hepatocellular Carcinoma | 0/46 0% | 3/2210 0% |
| Breast Carcinoma | 2/144 1% | 2/3264 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 2/2550 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Kidney Carcinoma | 0/85 0% | 2/1862 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Head and Neck Carcinoma | 0/85 0% | 1/1574 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 1/2534 0% |
Mutation Distribution
Where DEFA5 is mutated · all tissues, split by cell line vs tissue
How many mutations in DEFA5 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 19 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 86 mutations in DEFA5
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 |
|---|