Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
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.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 142 | 43 | 98 |
| Samples | 141 | 42 | 98 |
| Peptides | 105 | 31 | 77 |
Function
CXXC4 · CXXC finger protein 4
This gene encodes a CXXC-type zinc finger domain-containing protein that functions as an antagonist of the canonical wingless/integrated signaling pathway. The encoded protein negatively regulates wingless/integrated signaling through interaction with the post synaptic density protein/ Drosophila disc large tumor suppressor/ zonula occludens-1 protein domain of Dishevelled, a scaffolding protein required for the stabilization of the transcriptional co-activator beta-catenin. In addition, the CXXC domain of this protein has been shown to bind unmethylated CpG dinucleotides, localize to promoters and CpG islands, and interact with the catalytic domain of methylcytosine dioxygenase ten-eleven-translocation 2, an iron and alpha-ketoglutarate-dependent dioxygenase that modifies the methylation status of DNA. In humans, a mutation in this gene has been associated with development of malignant renal cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015].
Isoforms & Proteins
1 transcript · UniProt mapping is sequence-verified (AA-safe)
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000394767 | J9JIF5* | 142 | 105 |
Gene Properties
Recurrent Mutations
All 105 amino-acid changes on canonical ENST00000394767 · needle height = samples · drag the mini-map to zoom
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 CXXC4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CXXC4 – 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 type | Cell lines | Tissue samples |
|---|---|---|
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 4/612 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Gastric Carcinoma | 1/74 1% | 12/1809 1% |
| Other Sarcomas | 4/69 6% | 1/699 0% |
| Head and Neck Carcinoma | 3/85 4% | 7/1574 0% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 5/1390 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Colorectal Carcinoma | 6/143 4% | 8/3239 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Thyroid Gland Carcinoma | 3/45 7% | 3/1592 0% |
| Melanoma | 1/210 0% | 6/1899 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Other Solid Cancers | 0/94 0% | 5/1515 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 8/2550 0% |
| Neuroblastoma | 2/87 2% | 2/1331 0% |
| Ovarian Carcinoma | 2/109 2% | 1/998 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 6/2534 0% |
| Glioma | 1/52 2% | 4/2127 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Wilms Tumour | 0/5 0% | 1/474 0% |
| Breast Carcinoma | 2/144 1% | 4/3264 0% |
Mutation Distribution
Where CXXC4 is mutated · all tissues, split by cell line vs tissue
How many mutations in CXXC4 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
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 142 mutations in CXXC4
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.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|