UBQLN1

Ubiquilin 1 Q9UMX0 UBQL1_HUMAN
Protein Coding Chr 9 9q21.32|9q21.2-q21.3 Swiss-Prot reviewed Entrez 29979
Mutations
384
CL 45 · Tissue 335
Samples
204
CL 34 · Tissue 167
Peptides
172
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
Mutations38445335
Samples20434167
Peptides17220153

Function

UBQLN1 · Ubiquilin 1

This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

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
ENST00000376395 Q9UMX0 211 166
ENST00000257468 Q9UMX0-2 173 147

Gene Properties

Type
Protein Coding
Chromosome
9
Cytoband
9q21.32|9q21.2-q21.3
Entrez ID
Aliases
DA41DSK2PLIC-1UBQNXDRP1

Recurrent Mutations

All 166 amino-acid changes on canonical ENST00000376395 · 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 UBQLN1 · 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 UBQLN1 – 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
Glioblastoma
2/98 2%
0/0 0%
Endometrial Carcinoma
1/42 2%
12/612 2%
Colorectal Carcinoma
9/143 6%
32/3239 1%
Melanoma
2/210 1%
22/1899 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Squamous Cell Lung Carcinoma
0/57 0%
9/810 1%
Burkitts Lymphoma
0/32 0%
2/196 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Small Cell Lung Carcinoma
0/9 0%
5/752 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Other Sarcomas
3/69 4%
2/699 0%
Gastric Carcinoma
0/74 0%
11/1809 1%
Plasma Cell Myeloma
1/44 2%
1/305 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Bladder Carcinoma
0/58 0%
5/956 1%
Non-Small Cell Lung Carcinoma
0/304 0%
8/1390 1%
Neuroendocrine Tumour
2/154 1%
1/577 0%
Breast Carcinoma
6/144 4%
8/3264 0%
Ovarian Carcinoma
3/109 3%
1/998 0%
Non-Cancerous
0/104 0%
3/830 0%
Kidney Carcinoma
0/85 0%
5/1862 0%
Other Solid Cancers
0/94 0%
4/1515 0%
Thyroid Gland Carcinoma
2/45 4%
2/1592 0%
Glioma
0/52 0%
5/2127 0%
Medulloblastoma
0/0 0%
1/450 0%
Prostate Carcinoma
0/13 0%
4/2105 0%
Hepatocellular Carcinoma
0/46 0%
4/2210 0%
Head and Neck Carcinoma
0/85 0%
3/1574 0%
Pancreatic Carcinoma
0/89 0%
3/1611 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
3/2534 0%

Mutation Distribution

Where UBQLN1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in UBQLN1 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 384 mutations in UBQLN1

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