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 | 3,977 | 466 | 3,445 |
| Samples | 1,347 | 231 | 1,091 |
| Peptides | 1,284 | 203 | 1,112 |
Function
NRXN3 · Neurexin 3
This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012].
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 |
|---|---|---|---|
| ENST00000554738 | Q9Y4C0-4 | 1,188 | 767 |
| ENST00000554719 | Q9Y4C0-3 | 1,142 | 725 |
| ENST00000557594 | Q9HDB5 | 463 | 326 |
| ENST00000428277 | Q9HDB5-4 | 399 | 273 |
| ENST00000281127 | Q9HDB5-2 | 375 | 257 |
| ENST00000335750 | A0A0A0MR89* | 188 | 165 |
| ENST00000634499 | A0A0U1RQC5* | 141 | 94 |
| ENST00000635466 | A0A0U1RRJ0* | 81 | 54 |
Gene Properties
Recurrent Mutations
All 725 amino-acid changes on canonical ENST00000554719 · 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 NRXN3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NRXN3 – 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% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| Melanoma | 26/210 12% | 147/1899 8% |
| Non-Small Cell Lung Carcinoma | 46/304 15% | 78/1390 6% |
| Endometrial Carcinoma | 5/42 12% | 39/612 6% |
| Gastric Carcinoma | 9/74 12% | 100/1809 6% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 44/810 5% |
| Colorectal Carcinoma | 30/143 21% | 137/3239 4% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Other Solid Cancers | 3/94 3% | 68/1515 4% |
| Neuroendocrine Tumour | 20/154 13% | 8/577 1% |
| Esophageal Carcinoma | 2/23 9% | 25/769 3% |
| Cervical Carcinoma | 3/35 9% | 12/422 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 23/752 3% |
| Ovarian Carcinoma | 8/109 7% | 23/998 2% |
| Pancreatic Carcinoma | 5/89 6% | 41/1611 3% |
| Unknown | 1/10 10% | 0/29 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 65/2550 3% |
| Head and Neck Carcinoma | 1/85 1% | 41/1574 3% |
| Bladder Carcinoma | 1/58 2% | 24/956 3% |
| Plasma Cell Myeloma | 1/44 2% | 7/305 2% |
| Hodgkins Lymphoma | 1/16 6% | 2/122 2% |
| Hepatocellular Carcinoma | 1/46 2% | 45/2210 2% |
| Non-Cancerous | 1/104 1% | 18/830 2% |
| Adrenocortical Carcinoma | 0/3 0% | 2/112 2% |
| Other Sarcomas | 4/69 6% | 9/699 1% |
| Ewings Sarcoma | 3/63 5% | 2/262 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
Mutation Distribution
Where NRXN3 is mutated · all tissues, split by cell line vs tissue
How many mutations in NRXN3 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 3,977 mutations in NRXN3
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 |
|---|