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 | 1,197 | 99 | 1,087 |
| Samples | 193 | 31 | 158 |
| Peptides | 183 | 27 | 156 |
Function
SCARB2 · Scavenger receptor class B member 2
The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Earlier studies in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011].
Isoforms & Proteins
8 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 |
|---|---|---|---|
| ENST00000264896 | Q14108 | 201 | 149 |
| ENST00000639145 | A0A1W2PS43* | 174 | 130 |
| ENST00000640957 | A0A1W2PQB7* | 167 | 126 |
| ENST00000638603 | A0A1W2PPU6* | 165 | 121 |
| ENST00000640640 | A0A1W2PQR6* | 165 | 124 |
| ENST00000452464 | Q14108-2 | 128 | 94 |
| ENST00000638295 | A0A1W2PRF6* | 127 | 92 |
| ENST00000639738 | A0A1W2PQL5* | 70 | 46 |
Gene Properties
Recurrent Mutations
All 149 amino-acid changes on canonical ENST00000264896 · 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 SCARB2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SCARB2 – 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 |
|---|---|---|
| Endometrial Carcinoma | 1/42 2% | 18/612 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Colorectal Carcinoma | 2/143 1% | 27/3239 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 3/810 0% |
| Bladder Carcinoma | 1/58 2% | 6/956 1% |
| Non-Cancerous | 1/104 1% | 5/830 1% |
| Prostate Carcinoma | 0/13 0% | 13/2105 1% |
| Melanoma | 1/210 0% | 11/1899 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 7/1390 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Gastric Carcinoma | 1/74 1% | 6/1809 0% |
| Glioma | 1/52 2% | 7/2127 0% |
| Hepatocellular Carcinoma | 0/46 0% | 7/2210 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
| Pancreatic Carcinoma | 1/89 1% | 4/1611 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
| Breast Carcinoma | 2/144 1% | 7/3264 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 2/2534 0% |
| Other Blood Cancers | 2/61 3% | 4/2725 0% |
| Wilms Tumour | 1/5 20% | 0/474 0% |
| Biliary Tract Carcinoma | 1/54 2% | 1/950 0% |
| Other Solid Cancers | 1/94 1% | 2/1515 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 4/2550 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| B-Lymphoblastic Leukemia | 1/55 2% | 2/2640 0% |
Mutation Distribution
Where SCARB2 is mutated · all tissues, split by cell line vs tissue
How many mutations in SCARB2 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 1,197 mutations in SCARB2
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 |
|---|