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 | 68 | 3 | 65 |
| Samples | 62 | 3 | 59 |
| Peptides | 25 | 3 | 23 |
Function
DEFB104A · Defensin beta 104A
Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy. [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 |
|---|---|---|---|
| ENST00000314265 | Q8WTQ1 | 68 | 25 |
Gene Properties
Recurrent Mutations
All 25 amino-acid changes on canonical ENST00000314265 · 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 DEFB104A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DEFB104A – 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 |
|---|---|---|
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 24/2534 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Endometrial Carcinoma | 0/42 0% | 4/612 1% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Melanoma | 2/210 1% | 5/1899 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Colorectal Carcinoma | 1/143 1% | 6/3239 0% |
| Other Solid Cancers | 0/94 0% | 3/1515 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 1/810 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| Hepatocellular Carcinoma | 0/46 0% | 2/2210 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 1/1390 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
| Breast Carcinoma | 0/144 0% | 1/3264 0% |
Mutation Distribution
Where DEFB104A is mutated · all tissues, split by cell line vs tissue
How many mutations in DEFB104A 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.
Mutations
All 68 mutations in DEFB104A
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 |
|---|