USE1

Unconventional SNARE in the ER 1 Q9NZ43 USE1_HUMAN
Protein Coding Chr 19 19p13.11 Swiss-Prot reviewed Entrez 55850
Mutations
208
CL 31 · Tissue 172
Samples
117
CL 23 · Tissue 91
Peptides
94
unique mutant peptides
Transcripts
3
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
Mutations20831172
Samples1172391
Peptides941776

Function

USE1 · Unconventional SNARE in the ER 1

Predicted to enable SNAP receptor activity. Predicted to be involved in several processes, including lysosomal transport; protein catabolic process; and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Predicted to act upstream of or within endoplasmic reticulum tubular network organization and regulation of ER to Golgi vesicle-mediated transport. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

3 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
ENST00000263897 Q9NZ43 119 84
ENST00000596136 Q9NZ43-2 47 42
ENST00000595101 Q9NZ43-3 42 38

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19p13.11
Entrez ID
Aliases
D12MDS032P31SLT1

Recurrent Mutations

All 84 amino-acid changes on canonical ENST00000263897 · 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 USE1 · 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 USE1 – 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
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Endometrial Carcinoma
3/42 7%
9/612 1%
Cervical Carcinoma
2/35 6%
2/422 0%
Non-Cancerous
0/104 0%
6/830 1%
Bladder Carcinoma
1/58 2%
5/956 1%
Squamous Cell Lung Carcinoma
0/57 0%
4/810 0%
Mesothelioma
1/62 2%
0/165 0%
Other Solid Cancers
0/94 0%
7/1515 0%
Esophageal Carcinoma
1/23 4%
2/769 0%
Thyroid Gland Carcinoma
0/45 0%
6/1592 0%
Gastric Carcinoma
0/74 0%
7/1809 0%
Non-Small Cell Lung Carcinoma
1/304 0%
4/1390 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Neuroendocrine Tumour
2/154 1%
0/577 0%
Melanoma
0/210 0%
5/1899 0%
Head and Neck Carcinoma
0/85 0%
4/1574 0%
Colorectal Carcinoma
5/143 4%
3/3239 0%
Prostate Carcinoma
0/13 0%
4/2105 0%
Ovarian Carcinoma
0/109 0%
2/998 0%
Breast Carcinoma
2/144 1%
3/3264 0%
Glioma
0/52 0%
3/2127 0%
Hepatocellular Carcinoma
0/46 0%
3/2210 0%
Pancreatic Carcinoma
1/89 1%
1/1611 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
1/2550 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
2/2534 0%
Other Blood Cancers
0/61 0%
2/2725 0%
Kidney Carcinoma
0/85 0%
1/1862 0%

Mutation Distribution

Where USE1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in USE1 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 208 mutations in USE1

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