PDE1B

Phosphodiesterase 1B Q01064 PDE1B_HUMAN
Protein Coding Chr 12 12q13.2 Swiss-Prot reviewed Entrez 5153
Mutations
992
CL 117 · Tissue 852
Samples
359
CL 57 · Tissue 294
Peptides
267
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
Mutations992117852
Samples35957294
Peptides26737235

Function

PDE1B · Phosphodiesterase 1B

The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011].

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
ENST00000243052 Q01064 372 258
ENST00000550620 Q01064-2 313 227
ENST00000538346 B4DK72* 307 221

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q13.2
Entrez ID
Aliases
HEL-S-79pPDE1B1PDES1B

Recurrent Mutations

All 258 amino-acid changes on canonical ENST00000243052 · 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 PDE1B · 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 PDE1B – 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
2/40 5%
0/0 0%
Acute Monocytic Leukemia
0/1 0%
1/25 4%
Endometrial Carcinoma
6/42 14%
16/612 3%
Melanoma
3/210 1%
46/1899 2%
Squamous Cell Lung Carcinoma
3/57 5%
12/810 1%
Small Cell Lung Carcinoma
0/9 0%
13/752 2%
Colorectal Carcinoma
10/143 7%
44/3239 1%
Non-Small Cell Lung Carcinoma
6/304 2%
19/1390 1%
Gastric Carcinoma
0/74 0%
25/1809 1%
Other Solid Cancers
3/94 3%
18/1515 1%
Neuroendocrine Tumour
5/154 3%
4/577 1%
Mesothelioma
2/62 3%
0/165 0%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Biliary Tract Carcinoma
1/54 2%
6/950 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Head and Neck Carcinoma
1/85 1%
9/1574 1%
Bladder Carcinoma
0/58 0%
6/956 1%
Hepatocellular Carcinoma
1/46 2%
12/2210 1%
Ovarian Carcinoma
3/109 3%
3/998 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Kidney Carcinoma
0/85 0%
8/1862 0%
Meningioma
0/3 0%
1/252 0%
Glioma
1/52 2%
7/2127 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
9/2550 0%
Thyroid Gland Carcinoma
0/45 0%
5/1592 0%
B-Lymphoblastic Leukemia
4/55 7%
4/2640 0%
Breast Carcinoma
2/144 1%
8/3264 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Other Sarcomas
0/69 0%
2/699 0%

Mutation Distribution

Where PDE1B is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PDE1B 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 992 mutations in PDE1B

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