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 | 1,377 | 125 | 1,232 |
| Samples | 350 | 52 | 292 |
| Peptides | 284 | 35 | 249 |
Function
SPART · Spartin
This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008].
Isoforms & Proteins
4 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 284 amino-acid changes on canonical ENST00000438666 · 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 SPART · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SPART – 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 | 5/40 12% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 23/612 4% |
| Gastric Carcinoma | 4/74 5% | 41/1809 2% |
| Colorectal Carcinoma | 8/143 6% | 66/3239 2% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 13/1390 1% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 8/810 1% |
| Esophageal Carcinoma | 0/23 0% | 10/769 1% |
| Melanoma | 2/210 1% | 23/1899 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Osteosarcoma | 0/45 0% | 2/166 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 17/2550 1% |
| Glioma | 0/52 0% | 13/2127 1% |
| Hepatocellular Carcinoma | 0/46 0% | 12/2210 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Other Solid Cancers | 0/94 0% | 7/1515 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Breast Carcinoma | 4/144 3% | 10/3264 0% |
| Ovarian Carcinoma | 0/109 0% | 4/998 0% |
| Pancreatic Carcinoma | 1/89 1% | 5/1611 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 8/2534 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Head and Neck Carcinoma | 2/85 2% | 2/1574 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
Mutation Distribution
Where SPART is mutated · all tissues, split by cell line vs tissue
How many mutations in SPART 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.
Mutations
All 1,377 mutations in SPART
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 |
|---|