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 | 502 | 65 | 437 |
| Samples | 114 | 25 | 89 |
| Peptides | 116 | 15 | 103 |
Function
SFTPC · Surfactant protein C
This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic 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. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010].
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 69 amino-acid changes on canonical ENST00000318561 · 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 SFTPC · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SFTPC – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 3/1390 0% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Neuroendocrine Tumour | 2/154 1% | 2/577 0% |
| Colorectal Carcinoma | 4/143 3% | 13/3239 0% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Glioma | 0/52 0% | 9/2127 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Melanoma | 1/210 0% | 6/1899 0% |
| Gastric Carcinoma | 1/74 1% | 5/1809 0% |
| Endometrial Carcinoma | 1/42 2% | 1/612 0% |
| Neuroblastoma | 1/87 1% | 3/1331 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 7/2550 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Head and Neck Carcinoma | 1/85 1% | 3/1574 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Other Blood Cancers | 0/61 0% | 3/2725 0% |
| Kidney Carcinoma | 1/85 1% | 1/1862 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 0/1592 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
| Breast Carcinoma | 0/144 0% | 2/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 1/2534 0% |
| B-Lymphoblastic Leukemia | 1/55 2% | 0/2640 0% |
Mutation Distribution
Where SFTPC is mutated · all tissues, split by cell line vs tissue
How many mutations in SFTPC 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 53 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 502 mutations in SFTPC
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 |
|---|