CACNA1B

Calcium voltage-gated channel subunit alpha1 B Q00975 CAC1B_HUMAN
Protein Coding Chr 9 9q34.3 Swiss-Prot reviewed Entrez 774
Mutations
6,199
CL 784 · Tissue 5,317
Samples
1,424
CL 270 · Tissue 1,132
Peptides
1,239
unique mutant peptides
Transcripts
4
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
Mutations6,1997845,317
Samples1,4242701,132
Peptides1,2392261,056

Function

CACNA1B · Calcium voltage-gated channel subunit alpha1 B

The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011].

Isoforms & Proteins

4 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
ENST00000371372 Q00975 1,805 1,157
ENST00000371357 B1AQK7* 1,483 1,018
ENST00000371363 B1AQK6* 1,483 1,018
ENST00000277551 Q00975-2 1,428 979

Gene Properties

Type
Protein Coding
Chromosome
9
Cytoband
9q34.3
Entrez ID
Aliases
BIIICACNL1A5CACNNCav2.2DYT23NEDNEH

Recurrent Mutations

All 1157 amino-acid changes on canonical ENST00000371372 · 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 CACNA1B · 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 CACNA1B – 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
6/40 15%
0/0 0%
Chronic Myelogenous Leukemia
3/25 12%
0/0 0%
Glioblastoma
11/98 11%
0/0 0%
Endometrial Carcinoma
10/42 24%
55/612 9%
Melanoma
16/210 8%
147/1899 8%
Oral Cavity Carcinoma
4/54 7%
0/0 0%
Non-Small Cell Lung Carcinoma
47/304 15%
62/1390 4%
Colorectal Carcinoma
34/143 24%
176/3239 5%
Gastric Carcinoma
12/74 16%
99/1809 5%
Unknown
1/10 10%
1/29 3%
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Mesothelioma
6/62 10%
4/165 2%
Squamous Cell Lung Carcinoma
6/57 11%
32/810 4%
Neuroendocrine Tumour
15/154 10%
15/577 3%
Small Cell Lung Carcinoma
2/9 22%
27/752 4%
Osteosarcoma
6/45 13%
2/166 1%
Cervical Carcinoma
4/35 11%
13/422 3%
Other Solid Cancers
5/94 5%
53/1515 4%
Bladder Carcinoma
6/58 10%
29/956 3%
Other Sarcomas
4/69 6%
19/699 3%
Hodgkins Lymphoma
2/16 12%
2/122 2%
Ovarian Carcinoma
10/109 9%
20/998 2%
Non-Cancerous
1/104 1%
24/830 3%
Biliary Tract Carcinoma
2/54 4%
24/950 3%
Plasma Cell Myeloma
6/44 14%
2/305 1%
Esophageal Carcinoma
3/23 13%
15/769 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Hepatocellular Carcinoma
1/46 2%
47/2210 2%
Pancreatic Carcinoma
6/89 7%
27/1611 2%
Esophageal Squamous Cell Carcinoma
5/51 10%
45/2550 2%

Mutation Distribution

Where CACNA1B is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CACNA1B 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 6,199 mutations in CACNA1B

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