CALB1

Calbindin 1 P05937 CALB1_HUMAN
Protein Coding Chr 8 8q21.3 Swiss-Prot reviewed Entrez 793
Mutations
367
CL 66 · Tissue 299
Samples
212
CL 44 · Tissue 166
Peptides
146
unique mutant peptides
Transcripts
2
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
Mutations36766299
Samples21244166
Peptides14626127

Function

CALB1 · Calbindin 1

The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015].

Isoforms & Proteins

2 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
ENST00000265431 P05937 219 143
ENST00000518457 P05937-2 148 106

Gene Properties

Type
Protein Coding
Chromosome
8
Cytoband
8q21.3
Entrez ID
Aliases
CALBD-28K

Recurrent Mutations

All 143 amino-acid changes on canonical ENST00000265431 · 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 CALB1 · 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 CALB1 – 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
Hodgkins Lymphoma
2/16 12%
1/122 1%
Melanoma
4/210 2%
35/1899 2%
Neuroendocrine Tumour
8/154 5%
2/577 0%
Endometrial Carcinoma
1/42 2%
7/612 1%
Non-Small Cell Lung Carcinoma
10/304 3%
10/1390 1%
Small Cell Lung Carcinoma
0/9 0%
8/752 1%
Bladder Carcinoma
2/58 3%
7/956 1%
Squamous Cell Lung Carcinoma
2/57 4%
4/810 0%
Other Solid Cancers
0/94 0%
11/1515 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
17/2550 1%
Plasma Cell Myeloma
2/44 5%
0/305 0%
Colorectal Carcinoma
4/143 3%
15/3239 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Head and Neck Carcinoma
0/85 0%
7/1574 0%
Meningioma
1/3 33%
0/252 0%
Ovarian Carcinoma
2/109 2%
2/998 0%
Thyroid Gland Carcinoma
0/45 0%
5/1592 0%
Ewings Sarcoma
1/63 2%
0/262 0%
Hepatocellular Carcinoma
0/46 0%
7/2210 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Other Sarcomas
0/69 0%
2/699 0%
Pancreatic Carcinoma
2/89 2%
2/1611 0%
Glioma
0/52 0%
5/2127 0%
Medulloblastoma
0/0 0%
1/450 0%
Gastric Carcinoma
0/74 0%
4/1809 0%
Non-Cancerous
0/104 0%
2/830 0%
Breast Carcinoma
0/144 0%
5/3264 0%
Prostate Carcinoma
2/13 15%
1/2105 0%
Kidney Carcinoma
0/85 0%
2/1862 0%
Neuroblastoma
1/87 1%
0/1331 0%

Mutation Distribution

Where CALB1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CALB1 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 367 mutations in CALB1

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