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 | 968 | 104 | 852 |
| Samples | 228 | 25 | 200 |
| Peptides | 179 | 22 | 163 |
Function
CBS · Cystathionine beta-synthase
The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016].
Isoforms & Proteins
4 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 179 amino-acid changes on canonical ENST00000352178 · 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 CBS · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CBS – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Endometrial Carcinoma | 0/42 0% | 18/612 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Melanoma | 0/210 0% | 26/1899 1% |
| Colorectal Carcinoma | 3/143 2% | 38/3239 1% |
| Other Solid Cancers | 0/94 0% | 19/1515 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Cervical Carcinoma | 1/35 3% | 3/422 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 5/810 1% |
| Gastric Carcinoma | 0/74 0% | 13/1809 1% |
| Bladder Carcinoma | 2/58 3% | 4/956 0% |
| Glioma | 1/52 2% | 10/2127 0% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 3/1390 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 8/2550 0% |
| Breast Carcinoma | 1/144 1% | 10/3264 0% |
| Kidney Carcinoma | 1/85 1% | 5/1862 0% |
| Pancreatic Carcinoma | 0/89 0% | 5/1611 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 5/2534 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Hepatocellular Carcinoma | 0/46 0% | 5/2210 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 3/2640 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Ovarian Carcinoma | 0/109 0% | 2/998 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
Mutation Distribution
Where CBS is mutated · all tissues, split by cell line vs tissue
How many mutations in CBS 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 968 mutations in CBS
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 |
|---|