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 | 4,783 | 472 | 4,282 |
| Samples | 976 | 160 | 810 |
| Peptides | 759 | 114 | 672 |
Function
STXBP5L · Syntaxin binding protein 5L
The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017].
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.
Gene Properties
Recurrent Mutations
All 688 amino-acid changes on canonical ENST00000273666 · 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 STXBP5L · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in STXBP5L – 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 |
|---|---|---|
| Melanoma | 20/210 10% | 233/1899 12% |
| Non-Small Cell Lung Carcinoma | 48/304 16% | 46/1390 3% |
| Endometrial Carcinoma | 6/42 14% | 30/612 5% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 29/810 4% |
| Other Solid Cancers | 3/94 3% | 49/1515 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Gastric Carcinoma | 7/74 9% | 49/1809 3% |
| Bladder Carcinoma | 6/58 10% | 22/956 2% |
| Colorectal Carcinoma | 15/143 10% | 75/3239 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 20/752 3% |
| Rhabdomyosarcoma | 1/33 3% | 4/171 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Other Sarcomas | 6/69 9% | 10/699 1% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Ovarian Carcinoma | 4/109 4% | 16/998 2% |
| Cervical Carcinoma | 0/35 0% | 8/422 2% |
| Esophageal Carcinoma | 1/23 4% | 12/769 2% |
| Head and Neck Carcinoma | 3/85 4% | 22/1574 1% |
| Hepatocellular Carcinoma | 1/46 2% | 32/2210 1% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 34/2550 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 17/1592 1% |
| Ewings Sarcoma | 3/63 5% | 0/262 0% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Glioma | 0/52 0% | 18/2127 1% |
| Breast Carcinoma | 4/144 3% | 22/3264 1% |
| Biliary Tract Carcinoma | 1/54 2% | 6/950 1% |
Mutation Distribution
Where STXBP5L is mutated · all tissues, split by cell line vs tissue
How many mutations in STXBP5L 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 4,783 mutations in STXBP5L
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 |
|---|