CBX2

Chromobox 2 Q14781 CBX2_HUMAN
Protein Coding Chr 17 17q25.3 Swiss-Prot reviewed Entrez 84733
Mutations
370
CL 79 · Tissue 281
Samples
318
CL 72 · Tissue 237
Peptides
244
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
Mutations37079281
Samples31872237
Peptides24451195

Function

CBX2 · Chromobox 2

This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010].

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
ENST00000310942 Q14781 303 211
ENST00000269399 Q14781-2 67 54

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17q25.3
Entrez ID
Aliases
CDCA6M33SRXY5

Recurrent Mutations

All 211 amino-acid changes on canonical ENST00000310942 · 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 CBX2 · 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 CBX2 – 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
2/25 8%
0/0 0%
Oral Cavity Carcinoma
4/54 7%
0/0 0%
Non-Small Cell Lung Carcinoma
13/304 4%
22/1390 2%
Melanoma
2/210 1%
32/1899 2%
Rhabdomyosarcoma
3/33 9%
0/171 0%
Endometrial Carcinoma
2/42 5%
7/612 1%
Gastric Carcinoma
3/74 4%
22/1809 1%
Other Solid Cancers
2/94 2%
19/1515 1%
Squamous Cell Lung Carcinoma
1/57 2%
10/810 1%
Colorectal Carcinoma
8/143 6%
30/3239 1%
Glioblastoma
1/98 1%
0/0 0%
Ewings Sarcoma
2/63 3%
1/262 0%
Other Sarcomas
2/69 3%
3/699 0%
Non-Cancerous
1/104 1%
5/830 1%
Biliary Tract Carcinoma
1/54 2%
5/950 1%
Bladder Carcinoma
1/58 2%
5/956 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Esophageal Carcinoma
0/23 0%
4/769 1%
Thyroid Gland Carcinoma
0/45 0%
8/1592 0%
Mesothelioma
1/62 2%
0/165 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Neuroblastoma
2/87 2%
4/1331 0%
Glioma
0/52 0%
9/2127 0%
Hepatocellular Carcinoma
1/46 2%
8/2210 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
9/2550 0%
Ovarian Carcinoma
3/109 3%
1/998 0%
Kidney Carcinoma
2/85 2%
5/1862 0%
Pancreatic Carcinoma
3/89 3%
3/1611 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
8/2534 0%

Mutation Distribution

Where CBX2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CBX2 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 370 mutations in CBX2

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