TSR1

TSR1 ribosome maturation factor Q2NL82 TSR1_HUMAN
Protein Coding Chr 17 17p13.3 Swiss-Prot reviewed Entrez 55720
Mutations
412
CL 94 · Tissue 313
Samples
279
CL 79 · Tissue 197
Peptides
222
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
Mutations41294313
Samples27979197
Peptides22242180

Function

TSR1 · TSR1 ribosome maturation factor

Enables RNA binding activity. Predicted to be involved in endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) and maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to be located in nucleolus. Predicted to be part of preribosome, small subunit precursor. [provided by Alliance of Genome Resources, Apr 2022]

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
ENST00000301364 Q2NL82 293 215
ENST00000576112 I3L1Q5* 119 101

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17p13.3
Entrez ID

Recurrent Mutations

All 215 amino-acid changes on canonical ENST00000301364 · 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 TSR1 · 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 TSR1 – 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 Myeloid Leukemia
3/90 3%
0/0 0%
Endometrial Carcinoma
4/42 10%
16/612 3%
Gastrointestinal Stromal Tumour
0/0 0%
4/133 3%
Bladder Carcinoma
1/58 2%
13/956 1%
Non-Small Cell Lung Carcinoma
13/304 4%
10/1390 1%
Colorectal Carcinoma
17/143 12%
28/3239 1%
Germ Cell Tumour
0/25 0%
2/169 1%
Glioblastoma
1/98 1%
0/0 0%
Gastric Carcinoma
2/74 3%
16/1809 1%
Cervical Carcinoma
0/35 0%
4/422 1%
Melanoma
1/210 0%
15/1899 1%
Hepatocellular Carcinoma
2/46 4%
14/2210 1%
Ewings Sarcoma
2/63 3%
0/262 0%
Other Solid Cancers
3/94 3%
7/1515 0%
Neuroendocrine Tumour
4/154 3%
0/577 0%
Kidney Carcinoma
1/85 1%
9/1862 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
11/2550 0%
Osteosarcoma
1/45 2%
0/166 0%
Breast Carcinoma
4/144 3%
11/3264 0%
Glioma
0/52 0%
9/2127 0%
Non-Cancerous
2/104 2%
1/830 0%
Thyroid Gland Carcinoma
0/45 0%
5/1592 0%
Head and Neck Carcinoma
0/85 0%
5/1574 0%
Other Sarcomas
1/69 1%
1/699 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Medulloblastoma
0/0 0%
1/450 0%
Other Blood Cancers
1/61 2%
5/2725 0%
Neuroblastoma
2/87 2%
1/1331 0%
Biliary Tract Carcinoma
1/54 2%
1/950 0%

Mutation Distribution

Where TSR1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in TSR1 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 412 mutations in TSR1

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