CBLN3

Cerebellin 3 precursor Q6UW01 CBLN3_HUMAN
Protein Coding Chr 14 14q12 Swiss-Prot reviewed Entrez 643866
Mutations
180
CL 42 · Tissue 135
Samples
121
CL 31 · Tissue 88
Peptides
102
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
Mutations18042135
Samples1213188
Peptides1022280

Function

CBLN3 · Cerebellin 3 precursor

Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. However, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM, Aug 2009].

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
ENST00000267406 Q6UW01 110 87
ENST00000555436 G3V2Y8* 70 57

Gene Properties

Type
Protein Coding
Chromosome
14
Cytoband
14q12
Entrez ID
Aliases
PRO1486

Recurrent Mutations

All 87 amino-acid changes on canonical ENST00000267406 · 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 CBLN3 · 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 CBLN3 – 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
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Endometrial Carcinoma
3/42 7%
7/612 1%
Chondrosarcoma
1/14 7%
0/75 0%
Melanoma
5/210 2%
17/1899 1%
Non-Small Cell Lung Carcinoma
7/304 2%
6/1390 0%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Other Solid Cancers
0/94 0%
9/1515 1%
Esophageal Carcinoma
3/23 13%
1/769 0%
Colorectal Carcinoma
2/143 1%
15/3239 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Meningioma
0/3 0%
1/252 0%
Squamous Cell Lung Carcinoma
1/57 2%
2/810 0%
Neuroendocrine Tumour
1/154 1%
1/577 0%
Other Sarcomas
0/69 0%
2/699 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
Hepatocellular Carcinoma
0/46 0%
5/2210 0%
Neuroblastoma
1/87 1%
2/1331 0%
Non-Cancerous
0/104 0%
2/830 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Esophageal Squamous Cell Carcinoma
3/51 6%
2/2550 0%
Pancreatic Carcinoma
1/89 1%
1/1611 0%
Gastric Carcinoma
0/74 0%
2/1809 0%
Bladder Carcinoma
0/58 0%
1/956 0%
Glioma
1/52 2%
1/2127 0%
Head and Neck Carcinoma
0/85 0%
1/1574 0%
Prostate Carcinoma
0/13 0%
1/2105 0%
Kidney Carcinoma
0/85 0%
1/1862 0%
Other Blood Cancers
0/61 0%
1/2725 0%

Mutation Distribution

Where CBLN3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CBLN3 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 180 mutations in CBLN3

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