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 | 2,356 | 386 | 1,943 |
| Samples | 1,650 | 313 | 1,320 |
| Peptides | 1,142 | 203 | 991 |
Function
CNTNAP2 · Contactin associated protein 2
This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, 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, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability. [provided by RefSeq, Jul 2017].
Isoforms & Proteins
3 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 |
|---|---|---|---|
| ENST00000361727 | Q9UHC6 | 1,922 | 1,129 |
| ENST00000628930 | A0A0D9SGH9* | 337 | 246 |
| ENST00000463592 | Q9UHC6-2 | 97 | 64 |
Gene Properties
Recurrent Mutations
All 1128 amino-acid changes on canonical ENST00000361727 · 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 CNTNAP2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CNTNAP2 – 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-Cell Non-Hodgkins Lymphoma | 5/26 19% | 0/0 0% |
| Melanoma | 39/210 19% | 236/1899 12% |
| T-Lymphoblastic Leukemia | 5/40 12% | 0/0 0% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 52/304 17% | 128/1390 9% |
| Squamous Cell Lung Carcinoma | 7/57 12% | 80/810 10% |
| Endometrial Carcinoma | 7/42 17% | 55/612 9% |
| Acute Myeloid Leukemia | 7/90 8% | 0/0 0% |
| Glioblastoma | 7/98 7% | 0/0 0% |
| Other Solid Cancers | 4/94 4% | 94/1515 6% |
| Gastric Carcinoma | 10/74 14% | 94/1809 5% |
| Small Cell Lung Carcinoma | 2/9 22% | 39/752 5% |
| Colorectal Carcinoma | 25/143 17% | 143/3239 4% |
| Bladder Carcinoma | 5/58 9% | 31/956 3% |
| Cervical Carcinoma | 5/35 14% | 10/422 2% |
| Other Sarcomas | 11/69 16% | 13/699 2% |
| Head and Neck Carcinoma | 8/85 9% | 43/1574 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Esophageal Carcinoma | 7/23 30% | 15/769 2% |
| Biliary Tract Carcinoma | 5/54 9% | 20/950 2% |
| Neuroendocrine Tumour | 10/154 6% | 8/577 1% |
| Rhabdomyosarcoma | 1/33 3% | 4/171 2% |
| Ovarian Carcinoma | 3/109 3% | 23/998 2% |
| Plasma Cell Myeloma | 2/44 5% | 6/305 2% |
| Chondrosarcoma | 1/14 7% | 1/75 1% |
| Hepatocellular Carcinoma | 3/46 7% | 47/2210 2% |
| Burkitts Lymphoma | 5/32 16% | 0/196 0% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 50/2550 2% |
| Glioma | 6/52 12% | 35/2127 2% |
| Non-Cancerous | 1/104 1% | 16/830 2% |
Mutation Distribution
Where CNTNAP2 is mutated · all tissues, split by cell line vs tissue
How many mutations in CNTNAP2 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 2,356 mutations in CNTNAP2
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 |
|---|