PGAM4

Phosphoglycerate mutase family member 4 Q8N0Y7 PGAM4_HUMAN
Protein Coding Chr X Xq21.1 Swiss-Prot reviewed Entrez 441531
Mutations
121
CL 18 · Tissue 102
Samples
120
CL 18 · Tissue 101
Peptides
98
unique mutant peptides
Transcripts
1
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
Mutations12118102
Samples12018101
Peptides981685

Function

PGAM4 · Phosphoglycerate mutase family member 4

This intronless gene appears to have arisen from a retrotransposition event, yet it is thought to be an expressed, protein-coding gene. The encoded protein is a member of the phosphoglycerate mutase family, a set of enzymes that catalyze the transfer of a phosphate group from 3-phosphoglycerate to 2-phosphoglycerate. [provided by RefSeq, May 2010].

Isoforms & Proteins

1 transcript · 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
ENST00000458128 Q8N0Y7 121 98

Gene Properties

Type
Protein Coding
Chromosome
X
Cytoband
Xq21.1
Entrez ID
Aliases
PGAM-BPGAM1PGAM3dJ1000K24.1

Recurrent Mutations

All 98 amino-acid changes on canonical ENST00000458128 · 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 PGAM4 · 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 PGAM4 – 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
1/40 2%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Endometrial Carcinoma
0/42 0%
10/612 2%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Small Cell Lung Carcinoma
0/9 0%
6/752 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Non-Small Cell Lung Carcinoma
1/304 0%
10/1390 1%
Esophageal Carcinoma
0/23 0%
5/769 1%
Squamous Cell Lung Carcinoma
1/57 2%
4/810 0%
Colorectal Carcinoma
3/143 2%
16/3239 0%
Other Solid Cancers
2/94 2%
7/1515 0%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Cervical Carcinoma
1/35 3%
1/422 0%
Melanoma
3/210 1%
5/1899 0%
Gastric Carcinoma
0/74 0%
6/1809 0%
Bladder Carcinoma
0/58 0%
3/956 0%
Neuroendocrine Tumour
1/154 1%
1/577 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
Ovarian Carcinoma
0/109 0%
2/998 0%
Kidney Carcinoma
0/85 0%
3/1862 0%
Glioma
0/52 0%
3/2127 0%
Neuroblastoma
0/87 0%
2/1331 0%
Other Sarcomas
1/69 1%
0/699 0%
Breast Carcinoma
0/144 0%
4/3264 0%
Non-Cancerous
0/104 0%
1/830 0%
Hepatocellular Carcinoma
0/46 0%
2/2210 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
2/2550 0%
Prostate Carcinoma
1/13 8%
0/2105 0%
Other Blood Cancers
0/61 0%
1/2725 0%

Mutation Distribution

Where PGAM4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PGAM4 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 53 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 121 mutations in PGAM4

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