GPI

Glucose-6-phosphate isomerase P06744 G6PI_HUMAN
Protein Coding Chr 19 19q13.11 Swiss-Prot reviewed Entrez 2821
Mutations
793
CL 119 · Tissue 669
Samples
278
CL 54 · Tissue 223
Peptides
211
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
Mutations793119669
Samples27854223
Peptides21137177

Function

GPI · Glucose-6-phosphate isomerase

This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phosphate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016].

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
ENST00000356487 P06744 288 197
ENST00000415930 A0A2U3TZU2* 261 187
ENST00000588991 P06744-2 244 172

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19q13.11
Entrez ID
Aliases
AMFCNSHA4GNPINLKPGIPHI

Recurrent Mutations

All 197 amino-acid changes on canonical ENST00000356487 · 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 GPI · 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 GPI – 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
7/40 18%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Endometrial Carcinoma
3/42 7%
15/612 2%
Burkitts Lymphoma
1/32 3%
2/196 1%
Non-Small Cell Lung Carcinoma
4/304 1%
16/1390 1%
Gastric Carcinoma
0/74 0%
22/1809 1%
Squamous Cell Lung Carcinoma
1/57 2%
9/810 1%
Melanoma
3/210 1%
21/1899 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Colorectal Carcinoma
8/143 6%
24/3239 1%
Plasma Cell Myeloma
1/44 2%
2/305 1%
Non-Cancerous
0/104 0%
7/830 1%
Thyroid Gland Carcinoma
2/45 4%
10/1592 1%
Head and Neck Carcinoma
3/85 4%
9/1574 1%
Small Cell Lung Carcinoma
1/9 11%
4/752 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
16/2550 1%
Bladder Carcinoma
1/58 2%
5/956 1%
Neuroendocrine Tumour
2/154 1%
2/577 0%
Ovarian Carcinoma
3/109 3%
3/998 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Other Solid Cancers
2/94 2%
6/1515 0%
Biliary Tract Carcinoma
0/54 0%
5/950 1%
Glioma
0/52 0%
10/2127 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Other Sarcomas
1/69 1%
2/699 0%
Meningioma
1/3 33%
0/252 0%
Pancreatic Carcinoma
0/89 0%
6/1611 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Hepatocellular Carcinoma
0/46 0%
7/2210 0%
B-Lymphoblastic Leukemia
4/55 7%
2/2640 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in GPI 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 793 mutations in GPI

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