PCED1A

PC-esterase domain containing 1A Q9H1Q7 PED1A_HUMAN
Protein Coding Chr 20 20p13 Swiss-Prot reviewed Entrez 64773
Mutations
445
CL 64 · Tissue 371
Samples
233
CL 45 · Tissue 184
Peptides
192
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
Mutations44564371
Samples23345184
Peptides19231159

Function

PCED1A · PC-esterase domain containing 1A

The protein encoded by this gene is a member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein belongs to the Pmr5-Cas1p-esterase subfamily in that it contains the catalytic triad comprised of serine, aspartate and histidine and lacks two conserved regions (glycine after strand S2 and GxND motif). A pseudogene of this gene has been identified on the long arm of chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012].

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
ENST00000360652 Q9H1Q7 246 188
ENST00000356872 Q9H1Q7-2 199 159

Gene Properties

Type
Protein Coding
Chromosome
20
Cytoband
20p13
Entrez ID
Aliases
C20orf81FAM113AbA12M19.1

Recurrent Mutations

All 188 amino-acid changes on canonical ENST00000360652 · 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 PCED1A · 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 PCED1A – 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
5/42 12%
14/612 2%
Melanoma
8/210 4%
24/1899 1%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Colorectal Carcinoma
3/143 2%
28/3239 1%
Burkitts Lymphoma
1/32 3%
1/196 1%
Cervical Carcinoma
0/35 0%
4/422 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Other Solid Cancers
0/94 0%
12/1515 1%
Gastric Carcinoma
0/74 0%
14/1809 1%
Non-Small Cell Lung Carcinoma
1/304 0%
10/1390 1%
Plasma Cell Myeloma
1/44 2%
1/305 0%
Prostate Carcinoma
0/13 0%
12/2105 1%
Neuroendocrine Tumour
0/154 0%
4/577 1%
Non-Cancerous
0/104 0%
5/830 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Biliary Tract Carcinoma
1/54 2%
4/950 0%
Bladder Carcinoma
0/58 0%
5/956 1%
Squamous Cell Lung Carcinoma
0/57 0%
4/810 0%
Other Sarcomas
1/69 1%
2/699 0%
Hepatocellular Carcinoma
1/46 2%
6/2210 0%
Head and Neck Carcinoma
1/85 1%
4/1574 0%
Pancreatic Carcinoma
2/89 2%
3/1611 0%
Glioma
1/52 2%
5/2127 0%
Ovarian Carcinoma
1/109 1%
2/998 0%
Neuroblastoma
3/87 3%
0/1331 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
5/2550 0%
Thyroid Gland Carcinoma
0/45 0%
3/1592 0%

Mutation Distribution

Where PCED1A is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PCED1A 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 445 mutations in PCED1A

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