PNMA3

PNMA family member 3 Q9UL41 PNMA3_HUMAN
Protein Coding Chr X Xq28 Swiss-Prot reviewed Entrez 29944
Mutations
461
CL 96 · Tissue 363
Samples
249
CL 64 · Tissue 183
Peptides
183
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
Mutations46196363
Samples24964183
Peptides18338149

Function

PNMA3 · PNMA family member 3

The protein encoded by this gene belongs to the paraneoplastic antigen MA (PNMA) family, which shares homology with retroviral Gag proteins. The PNMA antigens are highly expressed in the brain and also in a range of tumors associated with serious neurological phenotypes. PMID:16407312 reports the presence of a functional -1 ribosomal frameshift signal (consisting of a heptanucleotide shift motif followed 3' by a pseudoknot structure) in this gene, however, the frame-shifted product has not been characterized. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013].

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
ENST00000593810 Q9UL41 248 176
ENST00000619635 Q9UL41-2 213 167

Gene Properties

Type
Protein Coding
Chromosome
X
Cytoband
Xq28
Entrez ID
Aliases
MA3MA5

Recurrent Mutations

All 176 amino-acid changes on canonical ENST00000593810 · 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 PNMA3 · 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 PNMA3 – 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%
Endometrial Carcinoma
2/42 5%
16/612 3%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Non-Small Cell Lung Carcinoma
21/304 7%
9/1390 1%
Melanoma
4/210 2%
27/1899 1%
Squamous Cell Lung Carcinoma
0/57 0%
9/810 1%
Mesothelioma
2/62 3%
0/165 0%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Glioma
0/52 0%
19/2127 1%
Colorectal Carcinoma
10/143 7%
17/3239 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Ovarian Carcinoma
3/109 3%
4/998 0%
Gastric Carcinoma
3/74 4%
8/1809 0%
Neuroendocrine Tumour
3/154 2%
1/577 0%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Head and Neck Carcinoma
0/85 0%
8/1574 1%
Osteosarcoma
0/45 0%
1/166 1%
Other Solid Cancers
0/94 0%
7/1515 0%
Hepatocellular Carcinoma
0/46 0%
10/2210 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Breast Carcinoma
2/144 1%
12/3264 0%
Biliary Tract Carcinoma
0/54 0%
4/950 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Other Sarcomas
0/69 0%
2/699 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Thyroid Gland Carcinoma
1/45 2%
3/1592 0%
Bladder Carcinoma
0/58 0%
2/956 0%
B-Lymphoblastic Leukemia
4/55 7%
1/2640 0%
Prostate Carcinoma
2/13 15%
2/2105 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
3/2534 0%

Mutation Distribution

Where PNMA3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PNMA3 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 461 mutations in PNMA3

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