PFKP

Phosphofructokinase, platelet Q01813 PFKAP_HUMAN
Protein Coding Chr 10 10p15.2 Swiss-Prot reviewed Entrez 5214
Mutations
509
CL 99 · Tissue 399
Samples
441
CL 89 · Tissue 345
Peptides
367
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
Mutations50999399
Samples44189345
Peptides36767303

Function

PFKP · Phosphofructokinase, platelet

This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 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
ENST00000381125 Q01813 496 358
ENST00000381075 A0A7I2V3Z0* 12 9
ENST00000699222 A0A8V8TMY4* 1 1

Gene Properties

Type
Protein Coding
Chromosome
10
Cytoband
10p15.2
Entrez ID
Aliases
ATP-PFKPFK-CPFK-PPFKF

Recurrent Mutations

All 358 amino-acid changes on canonical ENST00000381125 · 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 PFKP · 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 PFKP – 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
2/25 8%
0/0 0%
Endometrial Carcinoma
7/42 17%
30/612 5%
Chordoma
0/7 0%
1/13 8%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Hodgkins Lymphoma
2/16 12%
2/122 2%
Colorectal Carcinoma
17/143 12%
62/3239 2%
Glioblastoma
2/98 2%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Melanoma
2/210 1%
34/1899 2%
Gastric Carcinoma
3/74 4%
29/1809 2%
Squamous Cell Lung Carcinoma
2/57 4%
11/810 1%
Other Solid Cancers
4/94 4%
20/1515 1%
Non-Small Cell Lung Carcinoma
9/304 3%
16/1390 1%
Pheochromocytoma and Paraganglioma
0/0 0%
1/71 1%
Burkitts Lymphoma
1/32 3%
2/196 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Medulloblastoma
0/0 0%
5/450 1%
Hepatocellular Carcinoma
1/46 2%
20/2210 1%
Bladder Carcinoma
1/58 2%
8/956 1%
Neuroendocrine Tumour
3/154 2%
3/577 1%
Head and Neck Carcinoma
1/85 1%
12/1574 1%
Ovarian Carcinoma
6/109 6%
2/998 0%
Pancreatic Carcinoma
1/89 1%
11/1611 1%
Thyroid Gland Carcinoma
0/45 0%
11/1592 1%
Cervical Carcinoma
2/35 6%
1/422 0%
Breast Carcinoma
6/144 4%
13/3264 0%
Other Sarcomas
0/69 0%
4/699 1%
Glioma
0/52 0%
11/2127 1%
Rhabdomyosarcoma
0/33 0%
1/171 1%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in PFKP 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 509 mutations in PFKP

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