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 | 6,174 | 828 | 5,240 |
| Samples | 1,435 | 291 | 1,121 |
| Peptides | 1,108 | 237 | 906 |
Function
CACNA1H · Calcium voltage-gated channel subunit alpha1 H
This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. 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. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008].
Isoforms & Proteins
5 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 |
|---|---|---|---|
| ENST00000348261 | O95180 | 1,682 | 1,081 |
| ENST00000358590 | O95180-2 | 1,499 | 991 |
| ENST00000565831 | O95180-2 | 1,499 | 991 |
| ENST00000638323 | A0A1W2PR14* | 1,492 | 985 |
| ENST00000711447 | - | 2 | 2 |
Gene Properties
Recurrent Mutations
All 1081 amino-acid changes on canonical ENST00000348261 · 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 CACNA1H · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CACNA1H – 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 | 5/25 20% | 0/0 0% |
| T-Lymphoblastic Leukemia | 7/40 18% | 0/0 0% |
| Oral Cavity Carcinoma | 5/54 9% | 0/0 0% |
| Glioblastoma | 8/98 8% | 0/0 0% |
| Endometrial Carcinoma | 12/42 29% | 40/612 7% |
| Melanoma | 24/210 11% | 135/1899 7% |
| Non-Small Cell Lung Carcinoma | 40/304 13% | 67/1390 5% |
| Colorectal Carcinoma | 27/143 19% | 183/3239 6% |
| Gastric Carcinoma | 7/74 9% | 98/1809 5% |
| Other Solid Cancers | 2/94 2% | 73/1515 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Hodgkins Lymphoma | 3/16 19% | 3/122 2% |
| Squamous Cell Lung Carcinoma | 8/57 14% | 26/810 3% |
| Cervical Carcinoma | 2/35 6% | 14/422 3% |
| Small Cell Lung Carcinoma | 0/9 0% | 23/752 3% |
| Neuroendocrine Tumour | 18/154 12% | 3/577 1% |
| Bladder Carcinoma | 6/58 10% | 23/956 2% |
| Non-Cancerous | 2/104 2% | 24/830 3% |
| Thyroid Gland Carcinoma | 2/45 4% | 40/1592 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Rhabdomyosarcoma | 1/33 3% | 4/171 2% |
| Other Sarcomas | 3/69 4% | 15/699 2% |
| Plasma Cell Myeloma | 3/44 7% | 5/305 2% |
| Esophageal Carcinoma | 0/23 0% | 18/769 2% |
| Esophageal Squamous Cell Carcinoma | 7/51 14% | 50/2550 2% |
| Head and Neck Carcinoma | 7/85 8% | 29/1574 2% |
| Germ Cell Tumour | 1/25 4% | 3/169 2% |
| Ewings Sarcoma | 3/63 5% | 3/262 1% |
| Hepatocellular Carcinoma | 4/46 9% | 37/2210 2% |
Mutation Distribution
Where CACNA1H is mutated · all tissues, split by cell line vs tissue
How many mutations in CACNA1H 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 6,174 mutations in CACNA1H
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 |
|---|