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 | 434 | 85 | 347 |
| Samples | 211 | 54 | 156 |
| Peptides | 157 | 37 | 124 |
Function
SFTPB · Surfactant protein B
This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010].
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.
Gene Properties
Recurrent Mutations
All 148 amino-acid changes on canonical ENST00000519937 · 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 SFTPB · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SFTPB – 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 | 2/40 5% | 0/0 0% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Endometrial Carcinoma | 4/42 10% | 10/612 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Melanoma | 4/210 2% | 28/1899 1% |
| Colorectal Carcinoma | 13/143 9% | 26/3239 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 7/810 1% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 9/1390 1% |
| Bladder Carcinoma | 0/58 0% | 7/956 1% |
| Gastric Carcinoma | 1/74 1% | 11/1809 1% |
| Other Solid Cancers | 0/94 0% | 10/1515 1% |
| Neuroendocrine Tumour | 4/154 3% | 0/577 0% |
| Ovarian Carcinoma | 3/109 3% | 3/998 0% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Thyroid Gland Carcinoma | 3/45 7% | 5/1592 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Hepatocellular Carcinoma | 2/46 4% | 3/2210 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Kidney Carcinoma | 0/85 0% | 4/1862 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Breast Carcinoma | 0/144 0% | 6/3264 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 2/2550 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
Mutation Distribution
Where SFTPB is mutated · all tissues, split by cell line vs tissue
How many mutations in SFTPB 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 434 mutations in SFTPB
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 |
|---|