PUM1

Pumilio RNA binding family member 1 Q14671 PUM1_HUMAN
Protein Coding Chr 1 1p35.2 Swiss-Prot reviewed Entrez 9698
Mutations
3,176
CL 398 · Tissue 2,682
Samples
467
CL 79 · Tissue 376
Peptides
441
unique mutant peptides
Transcripts
7
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
Mutations3,1763982,682
Samples46779376
Peptides44168373

Function

PUM1 · Pumilio RNA binding family member 1

This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

7 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
ENST00000426105 Q14671-3 519 385
ENST00000373741 Q5T1Z8* 466 362
ENST00000257075 Q14671 463 359
ENST00000373747 Q5T1Z4* 463 359
ENST00000440538 Q14671-2 456 352
ENST00000373742 Q14671-4 436 339
ENST00000424085 E9PR38* 373 285

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1p35.2
Entrez ID
Aliases
HSPUMNEDMSFPUMHPUMH1PUML1SCA47

Recurrent Mutations

All 385 amino-acid changes on canonical ENST00000426105 · 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 PUM1 · 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 PUM1 – 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%
Oral Cavity Carcinoma
4/54 7%
0/0 0%
Endometrial Carcinoma
6/42 14%
25/612 4%
Acute Monocytic Leukemia
1/1 100%
0/25 0%
Cervical Carcinoma
0/35 0%
13/422 3%
Melanoma
5/210 2%
48/1899 3%
Colorectal Carcinoma
13/143 9%
57/3239 2%
Ovarian Carcinoma
3/109 3%
13/998 1%
Hodgkins Lymphoma
0/16 0%
2/122 2%
Non-Small Cell Lung Carcinoma
11/304 4%
13/1390 1%
Hepatocellular Carcinoma
1/46 2%
28/2210 1%
Squamous Cell Lung Carcinoma
1/57 2%
10/810 1%
Gastric Carcinoma
2/74 3%
19/1809 1%
Other Solid Cancers
1/94 1%
17/1515 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Bladder Carcinoma
1/58 2%
9/956 1%
Neuroendocrine Tumour
2/154 1%
5/577 1%
Other Sarcomas
2/69 3%
5/699 1%
Kidney Carcinoma
5/85 6%
12/1862 1%
Small Cell Lung Carcinoma
0/9 0%
6/752 1%
Head and Neck Carcinoma
0/85 0%
13/1574 1%
Glioma
0/52 0%
17/2127 1%
Biliary Tract Carcinoma
0/54 0%
6/950 1%
Plasma Cell Myeloma
1/44 2%
1/305 0%
Non-Cancerous
1/104 1%
4/830 0%
Breast Carcinoma
3/144 2%
15/3264 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Prostate Carcinoma
1/13 8%
10/2105 0%
Esophageal Carcinoma
0/23 0%
4/769 1%
Rhabdomyosarcoma
1/33 3%
0/171 0%

Mutation Distribution

Where PUM1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PUM1 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 3,176 mutations in PUM1

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