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 | 1,633 | 222 | 1,375 |
| Samples | 694 | 133 | 546 |
| Peptides | 553 | 95 | 479 |
Function
CNGB1 · Cyclic nucleotide gated channel subunit beta 1
In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013].
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 535 amino-acid changes on canonical ENST00000251102 · 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 CNGB1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CNGB1 – 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% |
| Chordoma | 0/7 0% | 2/13 15% |
| Endometrial Carcinoma | 10/42 24% | 34/612 6% |
| Melanoma | 14/210 7% | 96/1899 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Hodgkins Lymphoma | 3/16 19% | 2/122 2% |
| Cervical Carcinoma | 2/35 6% | 11/422 3% |
| Colorectal Carcinoma | 16/143 11% | 77/3239 2% |
| Germ Cell Tumour | 2/25 8% | 3/169 2% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Bladder Carcinoma | 2/58 3% | 23/956 2% |
| Gastric Carcinoma | 5/74 7% | 38/1809 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Ewings Sarcoma | 2/63 3% | 5/262 2% |
| Other Solid Cancers | 5/94 5% | 28/1515 2% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 18/1390 1% |
| Biliary Tract Carcinoma | 3/54 6% | 13/950 1% |
| Other Sarcomas | 4/69 6% | 8/699 1% |
| Neuroendocrine Tumour | 7/154 5% | 4/577 1% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 10/810 1% |
| Head and Neck Carcinoma | 2/85 2% | 21/1574 1% |
| Ovarian Carcinoma | 8/109 7% | 7/998 1% |
| Esophageal Carcinoma | 0/23 0% | 10/769 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 7/752 1% |
| Hepatocellular Carcinoma | 1/46 2% | 23/2210 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 17/1592 1% |
| Glioma | 4/52 8% | 16/2127 1% |
| Kidney Carcinoma | 4/85 5% | 11/1862 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 18/2550 1% |
| B-Cell Non-Hodgkins Lymphoma | 5/88 6% | 12/2534 0% |
Mutation Distribution
Where CNGB1 is mutated · all tissues, split by cell line vs tissue
How many mutations in CNGB1 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 49 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 1,633 mutations in CNGB1
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 |
|---|