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 | 1,875 | 245 | 1,564 |
| Samples | 884 | 148 | 706 |
| Peptides | 647 | 97 | 561 |
Function
TLR4 · Toll like receptor 4
The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. In silico studies have found a particularly strong binding of surface TLR4 with the spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of Coronavirus disease-2019 (COVID-19). This receptor has also been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness, and with susceptibility to age-related macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020].
Isoforms & Proteins
3 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000355622 | O00206 | 992 | 630 |
| ENST00000394487 | O00206-2 | 824 | 566 |
| ENST00000472304 | A0A2R8Y7P4* | 59 | 21 |
Gene Properties
Recurrent Mutations
All 630 amino-acid changes on canonical ENST00000355622 · 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 TLR4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TLR4 – 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 |
|---|---|---|
| Non-Small Cell Lung Carcinoma | 40/304 13% | 104/1390 7% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Melanoma | 12/210 6% | 148/1899 8% |
| Squamous Cell Lung Carcinoma | 9/57 16% | 34/810 4% |
| Endometrial Carcinoma | 7/42 17% | 23/612 4% |
| Gastric Carcinoma | 4/74 5% | 73/1809 4% |
| Other Solid Cancers | 5/94 5% | 49/1515 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Esophageal Carcinoma | 2/23 9% | 19/769 2% |
| Biliary Tract Carcinoma | 1/54 2% | 25/950 3% |
| Germ Cell Tumour | 2/25 8% | 3/169 2% |
| Neuroendocrine Tumour | 11/154 7% | 7/577 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 18/752 2% |
| Rhabdomyosarcoma | 0/33 0% | 4/171 2% |
| Mesothelioma | 3/62 5% | 1/165 1% |
| Head and Neck Carcinoma | 5/85 6% | 23/1574 1% |
| Colorectal Carcinoma | 8/143 6% | 37/3239 1% |
| Other Sarcomas | 5/69 7% | 5/699 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 26/2550 1% |
| Ovarian Carcinoma | 2/109 2% | 9/998 1% |
| Non-Cancerous | 0/104 0% | 9/830 1% |
| Pancreatic Carcinoma | 0/89 0% | 15/1611 1% |
| Cervical Carcinoma | 1/35 3% | 3/422 1% |
| Plasma Cell Myeloma | 0/44 0% | 3/305 1% |
| Breast Carcinoma | 3/144 2% | 23/3264 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Bladder Carcinoma | 0/58 0% | 7/956 1% |
| Hepatocellular Carcinoma | 1/46 2% | 14/2210 1% |
| Ewings Sarcoma | 0/63 0% | 2/262 1% |
| B-Cell Non-Hodgkins Lymphoma | 5/88 6% | 11/2534 0% |
Mutation Distribution
Where TLR4 is mutated · all tissues, split by cell line vs tissue
How many mutations in TLR4 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 1,875 mutations in TLR4
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 |
|---|