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 | 1,464 | 142 | 1,304 |
| Samples | 1,163 | 103 | 1,048 |
| Peptides | 525 | 64 | 468 |
Function
SF3B1 · Splicing factor 3b subunit 1
This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000335508 | O75533 | 1,267 | 511 |
| ENST00000487698 | A0A494C0N7* | 67 | 59 |
| ENST00000409915 | O75533-2 | 65 | 57 |
| ENST00000414963 | O75533-2 | 65 | 57 |
Gene Properties
Recurrent Mutations
All 510 amino-acid changes on canonical ENST00000335508 · 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 SF3B1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SF3B1 – 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 | 9/40 22% | 0/0 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 279/2534 11% |
| Unknown | 0/10 0% | 4/29 14% |
| Acute Monocytic Leukemia | 0/1 0% | 2/25 8% |
| Endometrial Carcinoma | 4/42 10% | 38/612 6% |
| Melanoma | 11/210 5% | 120/1899 6% |
| Bladder Carcinoma | 2/58 3% | 39/956 4% |
| Non-Small Cell Lung Carcinoma | 21/304 7% | 35/1390 3% |
| Hodgkins Lymphoma | 2/16 12% | 2/122 2% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 18/810 2% |
| Colorectal Carcinoma | 14/143 10% | 68/3239 2% |
| Biliary Tract Carcinoma | 1/54 2% | 22/950 2% |
| Other Solid Cancers | 0/94 0% | 34/1515 2% |
| Pancreatic Carcinoma | 1/89 1% | 33/1611 2% |
| Cervical Carcinoma | 0/35 0% | 9/422 2% |
| Breast Carcinoma | 2/144 1% | 64/3264 2% |
| Gastric Carcinoma | 1/74 1% | 33/1809 2% |
| Other Blood Cancers | 3/61 5% | 47/2725 2% |
| Hepatocellular Carcinoma | 0/46 0% | 39/2210 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 12/752 2% |
| Neuroendocrine Tumour | 4/154 3% | 7/577 1% |
| Plasma Cell Myeloma | 0/44 0% | 5/305 2% |
| Prostate Carcinoma | 4/13 31% | 22/2105 1% |
| Other Sarcomas | 3/69 4% | 6/699 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Head and Neck Carcinoma | 0/85 0% | 18/1574 1% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 24/2550 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Glioma | 0/52 0% | 22/2127 1% |
| Kidney Carcinoma | 0/85 0% | 18/1862 1% |
Mutation Distribution
Where SF3B1 is mutated · all tissues, split by cell line vs tissue
How many mutations in SF3B1 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 1,464 mutations in SF3B1
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 |
|---|