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 | 10,262 | 1,161 | 9,021 |
| Samples | 1,298 | 244 | 1,040 |
| Peptides | 968 | 182 | 833 |
Function
DMBT1 · Deleted in malignant brain tumors 1
Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. This gene was originally isolated based on its deletion in a medulloblastoma cell line. This gene is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The encoded protein precursor is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor suppressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Mar 2016].
Isoforms & Proteins
7 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 1047 amino-acid changes on canonical ENST00000338354 · 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 DMBT1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DMBT1 – 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% |
| Oral Cavity Carcinoma | 7/54 13% | 0/0 0% |
| Melanoma | 36/210 17% | 234/1899 12% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 44/612 7% |
| Squamous Cell Lung Carcinoma | 8/57 14% | 45/810 6% |
| Non-Small Cell Lung Carcinoma | 37/304 12% | 66/1390 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 7/133 5% |
| Colorectal Carcinoma | 25/143 17% | 126/3239 4% |
| Other Solid Cancers | 4/94 4% | 57/1515 4% |
| Cervical Carcinoma | 4/35 11% | 13/422 3% |
| Hodgkins Lymphoma | 2/16 12% | 2/122 2% |
| Thyroid Gland Carcinoma | 1/45 2% | 45/1592 3% |
| Bladder Carcinoma | 3/58 5% | 25/956 3% |
| Gastric Carcinoma | 1/74 1% | 44/1809 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Ovarian Carcinoma | 11/109 10% | 12/998 1% |
| Hepatocellular Carcinoma | 6/46 13% | 41/2210 2% |
| Head and Neck Carcinoma | 7/85 8% | 27/1574 2% |
| Rhabdomyosarcoma | 2/33 6% | 2/171 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 41/2550 2% |
| Neuroendocrine Tumour | 8/154 5% | 4/577 1% |
| Other Sarcomas | 6/69 9% | 6/699 1% |
| Germ Cell Tumour | 2/25 8% | 1/169 1% |
| B-Cell Non-Hodgkins Lymphoma | 5/88 6% | 32/2534 1% |
| Mesothelioma | 2/62 3% | 1/165 1% |
| Pancreatic Carcinoma | 0/89 0% | 22/1611 1% |
| Ewings Sarcoma | 1/63 2% | 3/262 1% |
| Non-Cancerous | 1/104 1% | 10/830 1% |
Mutation Distribution
Where DMBT1 is mutated · all tissues, split by cell line vs tissue
How many mutations in DMBT1 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 10,262 mutations in DMBT1
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 |
|---|