Stats by Source
Global, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Global = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Global can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Global | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 7,067 | 859 | 6,042 |
| Samples | 335 | 67 | 262 |
| Peptides | 393 | 67 | 332 |
Function
CACNB4 · Calcium voltage-gated channel auxiliary subunit beta 4
This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016].
Isoforms & Proteins
31 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 |
|---|---|---|---|
| ENST00000539935 | O00305 | 314 | 218 |
| ENST00000638005 | O00305-3 | 274 | 208 |
| ENST00000534999 | O00305-2 | 271 | 206 |
| ENST00000360283 | A0A1B0GXG0* | 269 | 204 |
| ENST00000439467 | H0Y476* | 264 | 200 |
| ENST00000636598 | H0Y476* | 264 | 200 |
| ENST00000637217 | H0Y476* | 264 | 200 |
| ENST00000637762 | A0A1B0GTX2* | 264 | 200 |
| ENST00000637779 | A0A1B0GTK1* | 254 | 191 |
| ENST00000427385 | A0A1C7CYX2* | 250 | 195 |
| ENST00000397327 | E7EN11* | 249 | 188 |
| ENST00000638040 | A0A1B0GTX8* | 247 | 185 |
| ENST00000636442 | A0A1B0GTN8* | 246 | 193 |
| ENST00000636350 | A0A1B0GTA9* | 244 | 192 |
| ENST00000201943 | O00305-4 | 243 | 187 |
| ENST00000637418 | A0A1B0GTF6* | 243 | 191 |
| ENST00000638091 | A0A1B0GU53* | 236 | 183 |
| ENST00000636130 | A0A1B0GTS4* | 229 | 177 |
| ENST00000636773 | A0A1B0GTS4* | 229 | 177 |
| ENST00000636617 | A0A1B0GVU5* | 225 | 172 |
| ENST00000636785 | A0A1B0GTP6* | 221 | 163 |
| ENST00000636901 | A0A1B0GUK4* | 221 | 171 |
| ENST00000636108 | A0A1B0GUM9* | 211 | 155 |
| ENST00000636380 | A0A1B0GVF0* | 200 | 150 |
| ENST00000637284 | A0A1B0GTP5* | 179 | 139 |
| ENST00000637514 | A0A1B0GTP5* | 179 | 139 |
| ENST00000637547 | A0A1B0GUI5* | 179 | 133 |
| ENST00000636721 | A0A1B0GW63* | 176 | 132 |
| ENST00000636129 | A0A1B0GU05* | 142 | 101 |
| ENST00000637309 | A0A1B0GUI8* | 141 | 102 |
| ENST00000636947 | A0A1B0GV16* | 139 | 99 |
Gene Properties
Recurrent Mutations
Top recurrent amino-acid changes along the protein · needle height = number of mutations
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 Distribution
Where CACNB4 is mutated · all tissues, split by cell line vs tissue
How many mutations in CACNB4 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 7,067 mutations in CACNB4
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 | Peptide |
|---|