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 | 103 | 14 | 88 |
| Samples | 90 | 14 | 75 |
| Peptides | 58 | 10 | 50 |
Function
DEFB126 · Defensin beta 126
Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. The encoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from cynomolgus monkey. Mutation of this gene is associated with impaired sperm function. [provided by RefSeq, Nov 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 |
|---|---|---|---|
| ENST00000382398 | Q9BYW3 | 103 | 58 |
Gene Properties
Recurrent Mutations
All 58 amino-acid changes on canonical ENST00000382398 · 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 DEFB126 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DEFB126 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 0/42 0% | 7/612 1% |
| Rhabdomyosarcoma | 2/33 6% | 0/171 0% |
| Non-Cancerous | 0/104 0% | 6/830 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 5/810 1% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Colorectal Carcinoma | 1/143 1% | 10/3239 0% |
| Hepatocellular Carcinoma | 0/46 0% | 7/2210 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 5/1390 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Melanoma | 1/210 0% | 5/1899 0% |
| Other Sarcomas | 2/69 3% | 0/699 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Other Solid Cancers | 0/94 0% | 3/1515 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Gastric Carcinoma | 0/74 0% | 3/1809 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 4/2550 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Other Blood Cancers | 1/61 2% | 2/2725 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 2/2534 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 0/2640 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
Mutation Distribution
Where DEFB126 is mutated · all tissues, split by cell line vs tissue
How many mutations in DEFB126 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 1 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 103 mutations in DEFB126
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 |
|---|