STAP1

Signal transducing adaptor family member 1 Q9ULZ2 STAP1_HUMAN
Protein Coding Chr 4 4q13.2 Swiss-Prot reviewed Entrez 26228
Mutations
386
CL 59 · Tissue 326
Samples
197
CL 38 · Tissue 158
Peptides
151
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
Mutations38659326
Samples19738158
Peptides15126133

Function

STAP1 · Signal transducing adaptor family member 1

The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015].

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
ENST00000265404 Q9ULZ2 204 151
ENST00000396225 Q9ULZ2 182 144

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4q13.2
Entrez ID
Aliases
BRDG1STAP-1

Recurrent Mutations

All 151 amino-acid changes on canonical ENST00000265404 · 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 STAP1 · 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 STAP1 – 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
2/40 5%
0/0 0%
Endometrial Carcinoma
4/42 10%
12/612 2%
Melanoma
4/210 2%
30/1899 2%
Non-Small Cell Lung Carcinoma
8/304 3%
17/1390 1%
Small Cell Lung Carcinoma
0/9 0%
10/752 1%
Chondrosarcoma
0/14 0%
1/75 1%
Other Solid Cancers
0/94 0%
11/1515 1%
Colorectal Carcinoma
4/143 3%
19/3239 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Osteosarcoma
1/45 2%
0/166 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Gastric Carcinoma
2/74 3%
6/1809 0%
Biliary Tract Carcinoma
0/54 0%
4/950 0%
Hepatocellular Carcinoma
2/46 4%
7/2210 0%
Squamous Cell Lung Carcinoma
0/57 0%
3/810 0%
Glioma
1/52 2%
6/2127 0%
Ewings Sarcoma
1/63 2%
0/262 0%
Bladder Carcinoma
0/58 0%
3/956 0%
Breast Carcinoma
2/144 1%
8/3264 0%
Neuroendocrine Tumour
2/154 1%
0/577 0%
Ovarian Carcinoma
1/109 1%
2/998 0%
Kidney Carcinoma
0/85 0%
5/1862 0%
Non-Cancerous
0/104 0%
2/830 0%
Other Sarcomas
0/69 0%
1/699 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
2/2550 0%
Pancreatic Carcinoma
1/89 1%
1/1611 0%
Thyroid Gland Carcinoma
0/45 0%
2/1592 0%
B-Cell Non-Hodgkins Lymphoma
2/88 2%
1/2534 0%
Prostate Carcinoma
0/13 0%
1/2105 0%

Mutation Distribution

Where STAP1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in STAP1 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 53 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 386 mutations in STAP1

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