CACNA1C

Calcium voltage-gated channel subunit alpha1 C Q13936-12 CAC1C_HUMAN
Protein Coding Chr 12 12p13.33 Swiss-Prot reviewed Entrez 775
Mutations
33,634
CL 3,241 · Tissue 30,213
Samples
1,567
CL 265 · Tissue 1,292
Peptides
1,441
unique mutant peptides
Transcripts
31
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

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.

TotalCell lineTissue
Mutations33,6343,24130,213
Samples1,5672651,292
Peptides1,4412611,229

Function

CACNA1C · Calcium voltage-gated channel subunit alpha1 C

This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012].

Isoforms & Proteins

31 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

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.

TranscriptUniProtMutationsPeptides
ENST00000399655 Q13936-12 1,712 1,117
ENST00000347598 Q13936-11 1,559 1,066
ENST00000406454 F5GY28* 1,552 1,056
ENST00000344100 Q13936-14 1,551 1,055
ENST00000399617 A0A0A0MSA1* 1,546 1,045
ENST00000399638 Q13936-31 1,543 1,053
ENST00000399621 Q13936-24 1,540 1,047
ENST00000399629 Q13936-32 1,540 1,046
ENST00000399606 Q13936-30 1,535 1,045
ENST00000327702 A0A0A0MR67* 1,533 1,040
ENST00000402845 Q13936-13 1,533 1,044
ENST00000399603 Q13936-37 1,525 1,036
ENST00000399597 Q13936-22 1,523 1,037
ENST00000399637 Q13936-27 1,521 1,037
ENST00000399644 Q13936-21 1,521 1,037
ENST00000335762 F5H522* 1,520 1,036
ENST00000399591 Q13936-29 1,520 1,036
ENST00000399649 Q13936-15 1,517 1,030
ENST00000399595 Q13936-25 1,516 1,030
ENST00000399641 Q13936-23 1,512 1,028
ENST00000399601 Q13936-20 1,511 1,030
ENST00000399634 E9PDI6* 1,001 698
ENST00000480911 F5H638* 279 191
ENST00000683482 Q13936-35 15 15
ENST00000643038 Q13936-11 2 2
ENST00000682686 Q13936-19 2 2
ENST00000643858 Q13936-14 1 1
ENST00000644691 Q13936-30 1 1
ENST00000647327 Q13936-37 1 1
ENST00000647521 Q13936-25 1 1
ENST00000710581 A0A804HIR0* 1 1

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12p13.33
Entrez ID
Aliases
CACH2CACN2CACNA1C-IT2CACNL1A1CCHL1A1CaV1.2

Recurrent Mutations

All 1117 amino-acid changes on canonical ENST00000399655 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent 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 frequency across cancer types

% of samples with a missense/complex mutation in CACNA1C · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CACNA1C – 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 typeCell linesTissue samples
T-Lymphoblastic Leukemia
11/40 28%
0/0 0%
Chronic Myelogenous Leukemia
5/25 20%
0/0 0%
Endometrial Carcinoma
14/42 33%
56/612 9%
Melanoma
27/210 13%
190/1899 10%
Non-Small Cell Lung Carcinoma
44/304 14%
102/1390 7%
Squamous Cell Lung Carcinoma
7/57 12%
52/810 6%
Acute Myeloid Leukemia
6/90 7%
0/0 0%
Oral Cavity Carcinoma
3/54 6%
0/0 0%
Other Solid Cancers
5/94 5%
84/1515 6%
Gastric Carcinoma
8/74 11%
96/1809 5%
Gastrointestinal Stromal Tumour
0/0 0%
7/133 5%
Colorectal Carcinoma
27/143 19%
144/3239 4%
Neuroendocrine Tumour
19/154 12%
14/577 2%
Glioblastoma
4/98 4%
0/0 0%
Other Sarcomas
9/69 13%
21/699 3%
Acute Monocytic Leukemia
0/1 0%
1/25 4%
Hodgkins Lymphoma
2/16 12%
3/122 2%
Bladder Carcinoma
7/58 12%
29/956 3%
Hepatocellular Carcinoma
4/46 9%
72/2210 3%
Cervical Carcinoma
3/35 9%
12/422 3%
Head and Neck Carcinoma
4/85 5%
44/1574 3%
Ovarian Carcinoma
8/109 7%
24/998 2%
Small Cell Lung Carcinoma
0/9 0%
21/752 3%
Unknown
0/10 0%
1/29 3%
Thymic Epithelial Tumor
0/0 0%
1/39 3%
Biliary Tract Carcinoma
1/54 2%
21/950 2%
Non-Cancerous
3/104 3%
17/830 2%
Breast Carcinoma
10/144 7%
56/3264 2%
Osteosarcoma
3/45 7%
1/166 1%
Esophageal Squamous Cell Carcinoma
4/51 8%
45/2550 2%

Mutation Distribution

Where CACNA1C is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CACNA1C 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

GTEx Portal ↗
About the expression data
GTEx Expression

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 33,634 mutations in CACNA1C

About the mutation list
Mutations

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.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide