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 | 2,405 | 400 | 1,994 |
| Samples | 1,912 | 322 | 1,580 |
| Peptides | 1,582 | 247 | 1,406 |
Function
SI · Sucrase-isomaltase
This gene encodes a sucrase-isomaltase enzyme that is expressed in the intestinal brush border. The encoded protein is synthesized as a precursor protein that is cleaved by pancreatic proteases into two enzymatic subunits sucrase and isomaltase. These two subunits heterodimerize to form the sucrose-isomaltase complex. This complex is essential for the digestion of dietary carbohydrates including starch, sucrose and isomaltose. Mutations in this gene are the cause of congenital sucrase-isomaltase deficiency.[provided by RefSeq, Apr 2010].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000264382 | P14410 | 2,405 | 1,582 |
Gene Properties
Recurrent Mutations
All 1582 amino-acid changes on canonical ENST00000264382 · 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 SI · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SI – 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% |
| Melanoma | 19/210 9% | 262/1899 14% |
| Non-Small Cell Lung Carcinoma | 63/304 21% | 157/1390 11% |
| Squamous Cell Lung Carcinoma | 6/57 11% | 97/810 12% |
| Endometrial Carcinoma | 11/42 26% | 61/612 10% |
| Small Cell Lung Carcinoma | 2/9 22% | 62/752 8% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Other Solid Cancers | 4/94 4% | 121/1515 8% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Unknown | 0/10 0% | 3/29 10% |
| Oral Cavity Carcinoma | 4/54 7% | 0/0 0% |
| Glioblastoma | 6/98 6% | 0/0 0% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Plasma Cell Myeloma | 7/44 16% | 12/305 4% |
| Hodgkins Lymphoma | 6/16 38% | 1/122 1% |
| Esophageal Squamous Cell Carcinoma | 11/51 22% | 121/2550 5% |
| Neuroendocrine Tumour | 24/154 16% | 10/577 2% |
| Head and Neck Carcinoma | 6/85 7% | 63/1574 4% |
| Cervical Carcinoma | 4/35 11% | 15/422 4% |
| Gastric Carcinoma | 4/74 5% | 74/1809 4% |
| Ovarian Carcinoma | 11/109 10% | 34/998 3% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Colorectal Carcinoma | 28/143 20% | 99/3239 3% |
| Bladder Carcinoma | 6/58 10% | 31/956 3% |
| Esophageal Carcinoma | 0/23 0% | 26/769 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Hepatocellular Carcinoma | 2/46 4% | 53/2210 2% |
| Osteosarcoma | 4/45 9% | 1/166 1% |
| Thyroid Gland Carcinoma | 6/45 13% | 26/1592 2% |
Mutation Distribution
Where SI is mutated · all tissues, split by cell line vs tissue
How many mutations in SI 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 12 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 2,405 mutations in SI
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 |
|---|