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 | 861 | 133 | 722 |
| Samples | 542 | 99 | 438 |
| Peptides | 392 | 69 | 339 |
Function
SLC4A1 · Solute carrier family 4 member 1 (Diego blood group)
The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
2 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 |
|---|---|---|---|
| ENST00000262418 | P02730 | 573 | 385 |
| ENST00000399246 | A0A0A0MS98* | 288 | 205 |
Gene Properties
Recurrent Mutations
All 385 amino-acid changes on canonical ENST00000262418 · 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 SLC4A1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SLC4A1 – 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 | 5/40 12% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Melanoma | 6/210 3% | 85/1899 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Endometrial Carcinoma | 8/42 19% | 15/612 2% |
| Non-Small Cell Lung Carcinoma | 10/304 3% | 31/1390 2% |
| Colorectal Carcinoma | 15/143 10% | 61/3239 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Gastric Carcinoma | 0/74 0% | 38/1809 2% |
| Other Solid Cancers | 1/94 1% | 30/1515 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 13/810 2% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
| Ovarian Carcinoma | 11/109 10% | 4/998 0% |
| Other Sarcomas | 4/69 6% | 6/699 1% |
| Neuroendocrine Tumour | 8/154 5% | 1/577 0% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Head and Neck Carcinoma | 4/85 5% | 13/1574 1% |
| Esophageal Carcinoma | 1/23 4% | 7/769 1% |
| Biliary Tract Carcinoma | 1/54 2% | 9/950 1% |
| Bladder Carcinoma | 1/58 2% | 8/956 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 19/2550 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 6/752 1% |
| Glioma | 2/52 4% | 14/2127 1% |
| Hepatocellular Carcinoma | 1/46 2% | 15/2210 1% |
| Pancreatic Carcinoma | 1/89 1% | 10/1611 1% |
| Breast Carcinoma | 1/144 1% | 17/3264 1% |
| Prostate Carcinoma | 2/13 15% | 8/2105 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 6/1592 0% |
Mutation Distribution
Where SLC4A1 is mutated · all tissues, split by cell line vs tissue
How many mutations in SLC4A1 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 861 mutations in SLC4A1
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 |
|---|