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 | 3,877 | 501 | 3,297 |
| Samples | 1,235 | 261 | 956 |
| Peptides | 1,022 | 220 | 812 |
Function
SPTBN4 · Spectrin beta, non-erythrocytic 4
Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
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 994 amino-acid changes on canonical ENST00000598249 · 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 SPTBN4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SPTBN4 – 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 |
|---|---|---|
| Endometrial Carcinoma | 11/42 26% | 45/612 7% |
| Glioblastoma | 8/98 8% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Acute Myeloid Leukemia | 6/90 7% | 0/0 0% |
| Melanoma | 13/210 6% | 126/1899 7% |
| Cervical Carcinoma | 13/35 37% | 14/422 3% |
| Gastric Carcinoma | 7/74 9% | 87/1809 5% |
| Non-Small Cell Lung Carcinoma | 25/304 8% | 57/1390 4% |
| Squamous Cell Lung Carcinoma | 8/57 14% | 33/810 4% |
| Other Solid Cancers | 10/94 11% | 64/1515 4% |
| Colorectal Carcinoma | 30/143 21% | 121/3239 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Bladder Carcinoma | 7/58 12% | 27/956 3% |
| Neuroendocrine Tumour | 17/154 11% | 6/577 1% |
| Esophageal Carcinoma | 3/23 13% | 20/769 3% |
| Hodgkins Lymphoma | 0/16 0% | 4/122 3% |
| Osteosarcoma | 4/45 9% | 2/166 1% |
| Thyroid Gland Carcinoma | 4/45 9% | 42/1592 3% |
| Other Sarcomas | 9/69 13% | 12/699 2% |
| Plasma Cell Myeloma | 5/44 11% | 4/305 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 50/2550 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 15/752 2% |
| Ewings Sarcoma | 4/63 6% | 2/262 1% |
| Mesothelioma | 3/62 5% | 1/165 1% |
| Head and Neck Carcinoma | 4/85 5% | 25/1574 2% |
| Ovarian Carcinoma | 8/109 7% | 11/998 1% |
| Biliary Tract Carcinoma | 2/54 4% | 15/950 2% |
| Breast Carcinoma | 11/144 8% | 42/3264 1% |
Mutation Distribution
Where SPTBN4 is mutated · all tissues, split by cell line vs tissue
How many mutations in SPTBN4 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 3,877 mutations in SPTBN4
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 |
|---|