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 | 3,991 | 303 | 3,660 |
| Samples | 525 | 65 | 454 |
| Peptides | 364 | 42 | 331 |
Function
CTCF · CCCTC-binding factor
This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010].
Isoforms & Proteins
8 transcripts · 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 |
|---|---|---|---|
| ENST00000264010 | P49711 | 558 | 349 |
| ENST00000646076 | P49711 | 518 | 337 |
| ENST00000642819 | P49711 | 517 | 336 |
| ENST00000644753 | P49711 | 517 | 336 |
| ENST00000645699 | P49711 | 517 | 336 |
| ENST00000645306 | A0A2R8YFL0* | 515 | 335 |
| ENST00000646771 | A0A2R8YFL0* | 515 | 335 |
| ENST00000401394 | P49711-2 | 334 | 204 |
Gene Properties
Recurrent Mutations
All 349 amino-acid changes on canonical ENST00000264010 · 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 CTCF · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CTCF – 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 |
|---|---|---|
| T-Lymphoblastic Leukemia | 13/40 32% | 0/0 0% |
| Endometrial Carcinoma | 12/42 29% | 50/612 8% |
| Burkitts Lymphoma | 3/32 9% | 6/196 3% |
| Colorectal Carcinoma | 17/143 12% | 61/3239 2% |
| Cervical Carcinoma | 2/35 6% | 7/422 2% |
| Bladder Carcinoma | 0/58 0% | 20/956 2% |
| Gastric Carcinoma | 0/74 0% | 32/1809 2% |
| Wilms Tumour | 0/5 0% | 8/474 2% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Breast Carcinoma | 1/144 1% | 44/3264 1% |
| Other Solid Cancers | 2/94 2% | 19/1515 1% |
| Melanoma | 2/210 1% | 21/1899 1% |
| Other Sarcomas | 0/69 0% | 8/699 1% |
| Head and Neck Carcinoma | 0/85 0% | 16/1574 1% |
| Neuroendocrine Tumour | 3/154 2% | 4/577 1% |
| Non-Cancerous | 0/104 0% | 9/830 1% |
| Mesothelioma | 1/62 2% | 1/165 1% |
| Plasma Cell Myeloma | 2/44 5% | 1/305 0% |
| Ovarian Carcinoma | 0/109 0% | 9/998 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 12/1592 1% |
| B-Lymphoblastic Leukemia | 0/55 0% | 19/2640 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 6/810 1% |
| Hepatocellular Carcinoma | 0/46 0% | 15/2210 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 9/1390 1% |
| Biliary Tract Carcinoma | 1/54 2% | 5/950 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 15/2550 1% |
| Glioma | 0/52 0% | 12/2127 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
Mutation Distribution
Where CTCF is mutated · all tissues, split by cell line vs tissue
How many mutations in CTCF 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 3,991 mutations in CTCF
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 |
|---|