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 | 2,560 | 275 | 2,260 |
| Samples | 546 | 93 | 444 |
| Peptides | 445 | 71 | 381 |
Function
SEZ6L2 · Seizure related 6 homolog like 2
This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011].
Isoforms & Proteins
5 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 |
|---|---|---|---|
| ENST00000617533 | A0A087WYL5* | 591 | 408 |
| ENST00000308713 | Q6UXD5 | 518 | 378 |
| ENST00000537485 | Q6UXD5-5 | 509 | 363 |
| ENST00000350527 | Q6UXD5-3 | 479 | 348 |
| ENST00000346932 | Q6UXD5-6 | 463 | 329 |
Gene Properties
Recurrent Mutations
All 378 amino-acid changes on canonical ENST00000308713 · 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 SEZ6L2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SEZ6L2 – 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 | 8/40 20% | 0/0 0% |
| Endometrial Carcinoma | 9/42 21% | 29/612 5% |
| Melanoma | 7/210 3% | 85/1899 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Other Solid Cancers | 0/94 0% | 38/1515 3% |
| Hodgkins Lymphoma | 1/16 6% | 2/122 2% |
| Bladder Carcinoma | 3/58 5% | 19/956 2% |
| Colorectal Carcinoma | 9/143 6% | 61/3239 2% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 15/810 2% |
| Non-Small Cell Lung Carcinoma | 13/304 4% | 18/1390 1% |
| Germ Cell Tumour | 2/25 8% | 1/169 1% |
| Cervical Carcinoma | 1/35 3% | 6/422 1% |
| Plasma Cell Myeloma | 4/44 9% | 1/305 0% |
| Gastric Carcinoma | 2/74 3% | 24/1809 1% |
| Neuroendocrine Tumour | 4/154 3% | 6/577 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 25/2550 1% |
| Glioma | 4/52 8% | 16/2127 1% |
| Other Sarcomas | 3/69 4% | 4/699 1% |
| Mesothelioma | 1/62 2% | 1/165 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 14/1592 1% |
| Hepatocellular Carcinoma | 0/46 0% | 18/2210 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Head and Neck Carcinoma | 2/85 2% | 9/1574 1% |
| Non-Cancerous | 1/104 1% | 5/830 1% |
| Ovarian Carcinoma | 0/109 0% | 7/998 1% |
| Breast Carcinoma | 2/144 1% | 19/3264 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Biliary Tract Carcinoma | 1/54 2% | 4/950 0% |
Mutation Distribution
Where SEZ6L2 is mutated · all tissues, split by cell line vs tissue
How many mutations in SEZ6L2 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 2,560 mutations in SEZ6L2
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 |
|---|