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 | 5,571 | 618 | 4,851 |
| Samples | 455 | 90 | 355 |
| Peptides | 397 | 69 | 332 |
Function
SEC31A · SEC31 homolog A, COPII component
The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015].
Isoforms & Proteins
15 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 |
|---|---|---|---|
| ENST00000395310 | O94979 | 479 | 346 |
| ENST00000505472 | D6REX3* | 429 | 332 |
| ENST00000355196 | O94979 | 426 | 330 |
| ENST00000448323 | O94979 | 426 | 330 |
| ENST00000348405 | O94979-4 | 420 | 325 |
| ENST00000508502 | O94979-2 | 420 | 324 |
| ENST00000505984 | O94979-10 | 412 | 317 |
| ENST00000443462 | O94979-9 | 410 | 318 |
| ENST00000311785 | O94979-3 | 384 | 295 |
| ENST00000509142 | O94979-3 | 384 | 295 |
| ENST00000500777 | O94979-6 | 376 | 288 |
| ENST00000513858 | O94979-6 | 376 | 288 |
| ENST00000264405 | H7BXG7* | 320 | 254 |
| ENST00000508479 | D6RHZ5* | 308 | 231 |
| ENST00000503937 | H0Y8W8* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 346 amino-acid changes on canonical ENST00000395310 · 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 SEC31A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SEC31A – 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 | 6/42 14% | 30/612 5% |
| Melanoma | 14/210 7% | 52/1899 3% |
| Cervical Carcinoma | 3/35 9% | 9/422 2% |
| Colorectal Carcinoma | 16/143 11% | 48/3239 1% |
| Retinoblastoma | 1/27 4% | 0/30 0% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 11/810 1% |
| Bladder Carcinoma | 1/58 2% | 16/956 2% |
| Non-Small Cell Lung Carcinoma | 10/304 3% | 18/1390 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Neuroendocrine Tumour | 6/154 4% | 5/577 1% |
| Gastric Carcinoma | 2/74 3% | 25/1809 1% |
| Plasma Cell Myeloma | 2/44 5% | 3/305 1% |
| Other Sarcomas | 0/69 0% | 9/699 1% |
| Other Solid Cancers | 1/94 1% | 16/1515 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Biliary Tract Carcinoma | 0/54 0% | 10/950 1% |
| Burkitts Lymphoma | 1/32 3% | 1/196 1% |
| Glioma | 1/52 2% | 16/2127 1% |
| Esophageal Carcinoma | 0/23 0% | 6/769 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 16/2550 1% |
| Hepatocellular Carcinoma | 1/46 2% | 12/2210 1% |
| Breast Carcinoma | 4/144 3% | 15/3264 0% |
| Ovarian Carcinoma | 0/109 0% | 6/998 1% |
| Non-Cancerous | 2/104 2% | 3/830 0% |
| Head and Neck Carcinoma | 1/85 1% | 8/1574 1% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Meningioma | 1/3 33% | 0/252 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
Mutation Distribution
Where SEC31A is mutated · all tissues, split by cell line vs tissue
How many mutations in SEC31A 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 5,571 mutations in SEC31A
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 |
|---|