SF3A1

Splicing factor 3a subunit 1 Q15459 SF3A1_HUMAN
Protein Coding Chr 22 22q12.2 Swiss-Prot reviewed Entrez 10291
Mutations
338
CL 72 · Tissue 252
Samples
313
CL 60 · Tissue 241
Peptides
245
unique mutant peptides
Transcripts
2
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

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.

TotalCell lineTissue
Mutations33872252
Samples31360241
Peptides24547192

Function

SF3A1 · Splicing factor 3a subunit 1

This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nuclear ribonucleoproteins play a critical role in spliceosome assembly and pre-mRNA splicing. [provided by RefSeq, Aug 2014].

Isoforms & Proteins

2 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

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.

TranscriptUniProtMutationsPeptides
ENST00000215793 Q15459 336 244
ENST00000411423 F8WC79* 2 1

Gene Properties

Type
Protein Coding
Chromosome
22
Cytoband
22q12.2
Entrez ID
Aliases
PRP21PRPF21SAP114SF3A120

Recurrent Mutations

All 244 amino-acid changes on canonical ENST00000215793 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

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 SF3A1 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SF3A1 – 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 typeCell linesTissue samples
T-Lymphoblastic Leukemia
6/40 15%
0/0 0%
Acute Monocytic Leukemia
0/1 0%
2/25 8%
Endometrial Carcinoma
5/42 12%
16/612 3%
Melanoma
2/210 1%
36/1899 2%
Cervical Carcinoma
2/35 6%
5/422 1%
Non-Small Cell Lung Carcinoma
11/304 4%
14/1390 1%
Colorectal Carcinoma
12/143 8%
27/3239 1%
Gastric Carcinoma
0/74 0%
21/1809 1%
Glioblastoma
1/98 1%
0/0 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
24/2550 1%
Squamous Cell Lung Carcinoma
0/57 0%
8/810 1%
Bladder Carcinoma
0/58 0%
9/956 1%
Other Solid Cancers
1/94 1%
12/1515 1%
Ovarian Carcinoma
2/109 2%
5/998 0%
Biliary Tract Carcinoma
1/54 2%
5/950 1%
Hepatocellular Carcinoma
0/46 0%
13/2210 1%
Thyroid Gland Carcinoma
1/45 2%
8/1592 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Other Sarcomas
0/69 0%
3/699 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Meningioma
1/3 33%
0/252 0%
Esophageal Carcinoma
0/23 0%
3/769 0%
Pancreatic Carcinoma
2/89 2%
4/1611 0%
Kidney Carcinoma
2/85 2%
4/1862 0%
Other Blood Cancers
1/61 2%
7/2725 0%
Prostate Carcinoma
1/13 8%
5/2105 0%
Neuroendocrine Tumour
0/154 0%
2/577 0%
Breast Carcinoma
3/144 2%
6/3264 0%
Head and Neck Carcinoma
1/85 1%
3/1574 0%
Medulloblastoma
0/0 0%
1/450 0%

Mutation Distribution

Where SF3A1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SF3A1 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

GTEx Portal ↗
About the expression data
GTEx Expression

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 338 mutations in SF3A1

About the mutation list
Mutations

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.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide