PDE5A

Phosphodiesterase 5A O76074 PDE5A_HUMAN
Protein Coding Chr 4 4q26 Swiss-Prot reviewed Entrez 8654
Mutations
1,029
CL 148 · Tissue 872
Samples
355
CL 73 · Tissue 279
Peptides
294
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
Mutations1,029148872
Samples35573279
Peptides29449250

Function

PDE5A · Phosphodiesterase 5A

This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008].

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
ENST00000354960 O76074 375 284
ENST00000264805 O76074-2 328 264
ENST00000394439 G5E9C5* 326 262

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4q26
Entrez ID
Aliases
CGB-PDECN5APDE5

Recurrent Mutations

All 284 amino-acid changes on canonical ENST00000354960 · 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 PDE5A · 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 PDE5A – 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%
Endometrial Carcinoma
4/42 10%
19/612 3%
Squamous Cell Lung Carcinoma
10/57 18%
13/810 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Bladder Carcinoma
0/58 0%
18/956 2%
Colorectal Carcinoma
15/143 10%
40/3239 1%
Melanoma
3/210 1%
29/1899 2%
Other Solid Cancers
1/94 1%
19/1515 1%
Non-Small Cell Lung Carcinoma
8/304 3%
12/1390 1%
Cervical Carcinoma
0/35 0%
5/422 1%
Head and Neck Carcinoma
2/85 2%
11/1574 1%
Thyroid Gland Carcinoma
0/45 0%
11/1592 1%
Other Sarcomas
1/69 1%
4/699 1%
Gastric Carcinoma
2/74 3%
10/1809 1%
Ewings Sarcoma
2/63 3%
0/262 0%
Breast Carcinoma
3/144 2%
16/3264 0%
Neuroendocrine Tumour
1/154 1%
3/577 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Biliary Tract Carcinoma
0/54 0%
5/950 1%
Osteosarcoma
1/45 2%
0/166 0%
Ovarian Carcinoma
4/109 4%
1/998 0%
Hepatocellular Carcinoma
2/46 4%
8/2210 0%
Esophageal Carcinoma
0/23 0%
3/769 0%
Prostate Carcinoma
2/13 15%
6/2105 0%
Kidney Carcinoma
2/85 2%
5/1862 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
8/2550 0%
Glioma
0/52 0%
7/2127 0%
Non-Cancerous
0/104 0%
3/830 0%
Neuroblastoma
2/87 2%
2/1331 0%
Pancreatic Carcinoma
0/89 0%
4/1611 0%

Mutation Distribution

Where PDE5A is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PDE5A 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 1,029 mutations in PDE5A

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