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 | 7,495 | 989 | 6,388 |
| Samples | 1,208 | 260 | 926 |
| Peptides | 959 | 176 | 806 |
Function
CNTNAP4 · Contactin associated protein family member 4
This gene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. This protein may also play a role in proper neurotransmission in the dopaminergic and GABAergic systems and mutations in this gene may be associated with certain psychiatric illnesses. A polymorphism in an intron of this gene may be associated with longevity. [provided by RefSeq, Apr 2016].
Isoforms & Proteins
6 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 |
|---|---|---|---|
| ENST00000611870 | Q9C0A0 | 1,391 | 899 |
| ENST00000476707 | E9PDN6* | 1,250 | 862 |
| ENST00000307431 | A0A0A0MR20* | 1,244 | 860 |
| ENST00000622250 | A0A087WTA1* | 1,208 | 834 |
| ENST00000377504 | F5H107* | 1,206 | 833 |
| ENST00000478060 | Q9C0A0-2 | 1,196 | 823 |
Gene Properties
Recurrent Mutations
All 899 amino-acid changes on canonical ENST00000611870 · 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 CNTNAP4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CNTNAP4 – 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 | 4/25 16% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 4/26 15% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 52/304 17% | 88/1390 6% |
| Melanoma | 17/210 8% | 153/1899 8% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 11/57 19% | 54/810 7% |
| Glioblastoma | 7/98 7% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 36/612 6% |
| Other Solid Cancers | 8/94 9% | 69/1515 5% |
| Small Cell Lung Carcinoma | 4/9 44% | 31/752 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Esophageal Carcinoma | 6/23 26% | 25/769 3% |
| Colorectal Carcinoma | 22/143 15% | 110/3239 3% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Gastric Carcinoma | 9/74 12% | 59/1809 3% |
| Chondrosarcoma | 3/14 21% | 0/75 0% |
| Germ Cell Tumour | 3/25 12% | 3/169 2% |
| Neuroendocrine Tumour | 18/154 12% | 1/577 0% |
| Bladder Carcinoma | 2/58 3% | 24/956 3% |
| Cervical Carcinoma | 0/35 0% | 11/422 3% |
| Other Sarcomas | 5/69 7% | 11/699 2% |
| Esophageal Squamous Cell Carcinoma | 8/51 16% | 45/2550 2% |
| Plasma Cell Myeloma | 4/44 9% | 3/305 1% |
| Mesothelioma | 4/62 6% | 0/165 0% |
| Head and Neck Carcinoma | 5/85 6% | 24/1574 2% |
| Adrenocortical Carcinoma | 0/3 0% | 2/112 2% |
| Ovarian Carcinoma | 7/109 6% | 11/998 1% |
| Kidney Carcinoma | 5/85 6% | 24/1862 1% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
Mutation Distribution
Where CNTNAP4 is mutated · all tissues, split by cell line vs tissue
How many mutations in CNTNAP4 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 51 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 7,495 mutations in CNTNAP4
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 |
|---|