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 | 18,098 | 2,046 | 15,786 |
| Samples | 4,350 | 701 | 3,575 |
| Peptides | 4,631 | 694 | 3,988 |
Function
SYNE1 · Spectrin repeat containing nuclear envelope protein 1
This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
11 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 |
|---|---|---|---|
| ENST00000367255 | Q8NF91 | 6,547 | 4,488 |
| ENST00000423061 | A0A0C4DG40* | 5,665 | 4,038 |
| ENST00000367253 | Q8NF91-6 | 1,330 | 927 |
| ENST00000413186 | Q8NF91-5 | 1,164 | 798 |
| ENST00000367248 | F5GXQ8* | 1,160 | 794 |
| ENST00000354674 | F8WAI0* | 634 | 416 |
| ENST00000539504 | Q5JV20* | 620 | 405 |
| ENST00000466159 | F5H4Q0* | 578 | 402 |
| ENST00000495090 | F5H422* | 380 | 288 |
| ENST00000610489 | A0ACM8RB52* | 19 | 15 |
| ENST00000540663 | F5H6R8* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 2500 amino-acid changes on canonical ENST00000367255 · 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 SYNE1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SYNE1 – 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 | 18/40 45% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 21/57 37% | 189/810 23% |
| T-Cell Non-Hodgkins Lymphoma | 6/26 23% | 0/0 0% |
| Oral Cavity Carcinoma | 11/54 20% | 0/0 0% |
| Colorectal Carcinoma | 75/143 52% | 608/3239 19% |
| Chronic Myelogenous Leukemia | 5/25 20% | 0/0 0% |
| Melanoma | 49/210 23% | 342/1899 18% |
| Endometrial Carcinoma | 20/42 48% | 101/612 16% |
| Gastric Carcinoma | 21/74 28% | 316/1809 17% |
| Acute Myeloid Leukemia | 16/90 18% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 97/304 32% | 155/1390 11% |
| Other Solid Cancers | 15/94 16% | 213/1515 14% |
| Bladder Carcinoma | 14/58 24% | 117/956 12% |
| Esophageal Carcinoma | 3/23 13% | 94/769 12% |
| Neuroendocrine Tumour | 53/154 34% | 32/577 6% |
| Cervical Carcinoma | 7/35 20% | 42/422 10% |
| Small Cell Lung Carcinoma | 0/9 0% | 73/752 10% |
| Head and Neck Carcinoma | 6/85 7% | 152/1574 10% |
| Esophageal Squamous Cell Carcinoma | 20/51 39% | 216/2550 8% |
| Glioblastoma | 8/98 8% | 0/0 0% |
| Biliary Tract Carcinoma | 7/54 13% | 64/950 7% |
| Adrenocortical Carcinoma | 2/3 67% | 6/112 5% |
| Ovarian Carcinoma | 23/109 21% | 47/998 5% |
| Osteosarcoma | 8/45 18% | 5/166 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 8/133 6% |
| Hepatocellular Carcinoma | 7/46 15% | 124/2210 6% |
| Germ Cell Tumour | 2/25 8% | 9/169 5% |
| Non-Cancerous | 11/104 11% | 42/830 5% |
| Ewings Sarcoma | 11/63 17% | 7/262 3% |
| Unknown | 0/10 0% | 2/29 7% |
Mutation Distribution
Where SYNE1 is mutated · all tissues, split by cell line vs tissue
How many mutations in SYNE1 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 18,098 mutations in SYNE1
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 |
|---|