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 | 540 | 66 | 470 |
| Samples | 215 | 35 | 177 |
| Peptides | 150 | 28 | 126 |
Function
GNB1L · G protein subunit beta 1 like
This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008].
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 146 amino-acid changes on canonical ENST00000329517 · 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 GNB1L · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GNB1L – 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 | 2/25 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Burkitts Lymphoma | 0/32 0% | 5/196 3% |
| Endometrial Carcinoma | 4/42 10% | 9/612 1% |
| Rhabdomyosarcoma | 0/33 0% | 3/171 2% |
| Colorectal Carcinoma | 1/143 1% | 36/3239 1% |
| Gastric Carcinoma | 1/74 1% | 16/1809 1% |
| Bladder Carcinoma | 0/58 0% | 9/956 1% |
| Melanoma | 2/210 1% | 16/1899 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 5/810 1% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 11/1390 1% |
| Ovarian Carcinoma | 2/109 2% | 4/998 0% |
| Other Solid Cancers | 2/94 2% | 5/1515 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Other Sarcomas | 1/69 1% | 2/699 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 6/1592 0% |
| Pancreatic Carcinoma | 1/89 1% | 5/1611 0% |
| Non-Cancerous | 1/104 1% | 2/830 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 6/2550 0% |
| Head and Neck Carcinoma | 2/85 2% | 3/1574 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Hepatocellular Carcinoma | 0/46 0% | 5/2210 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Kidney Carcinoma | 1/85 1% | 3/1862 0% |
Mutation Distribution
Where GNB1L is mutated · all tissues, split by cell line vs tissue
How many mutations in GNB1L 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 540 mutations in GNB1L
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 |
|---|