PDXK

Pyridoxal kinase O00764 PDXK_HUMAN
Protein Coding Chr 21 21q22.3 Swiss-Prot reviewed Entrez 8566
Mutations
369
CL 51 · Tissue 313
Samples
167
CL 30 · Tissue 134
Peptides
135
unique mutant peptides
Transcripts
6
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
Mutations36951313
Samples16730134
Peptides13524115

Function

PDXK · Pyridoxal kinase

The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

6 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
ENST00000291565 O00764 116 87
ENST00000467908 F2Z2Y4* 97 78
ENST00000468090 O00764-2 94 76
ENST00000327574 A8MT14* 40 28
ENST00000621478 A0A0B4J2C9* 14 11
ENST00000398081 A8MV33* 8 7

Gene Properties

Type
Protein Coding
Chromosome
21
Cytoband
21q22.3
Entrez ID
Aliases
C21orf124C21orf97HEL-S-1aHMSN6CPKHPNK

Recurrent Mutations

All 87 amino-acid changes on canonical ENST00000291565 · 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 PDXK · 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 PDXK – 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
Acute Myeloid Leukemia
3/90 3%
0/0 0%
Unknown
0/10 0%
1/29 3%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Endometrial Carcinoma
1/42 2%
9/612 1%
Pheochromocytoma and Paraganglioma
0/0 0%
1/71 1%
Cervical Carcinoma
2/35 6%
4/422 1%
Thyroid Gland Carcinoma
3/45 7%
9/1592 1%
Colorectal Carcinoma
5/143 4%
19/3239 1%
Squamous Cell Lung Carcinoma
1/57 2%
4/810 0%
Neuroendocrine Tumour
1/154 1%
3/577 1%
Other Sarcomas
2/69 3%
2/699 0%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Gastric Carcinoma
2/74 3%
7/1809 0%
Melanoma
0/210 0%
10/1899 1%
Other Solid Cancers
0/94 0%
7/1515 0%
Mesothelioma
1/62 2%
0/165 0%
Non-Small Cell Lung Carcinoma
1/304 0%
6/1390 0%
Breast Carcinoma
1/144 1%
11/3264 0%
Biliary Tract Carcinoma
2/54 4%
1/950 0%
Glioma
0/52 0%
6/2127 0%
Ovarian Carcinoma
1/109 1%
2/998 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Hepatocellular Carcinoma
0/46 0%
5/2210 0%
Non-Cancerous
0/104 0%
2/830 0%
Kidney Carcinoma
0/85 0%
4/1862 0%
Other Blood Cancers
1/61 2%
4/2725 0%
Head and Neck Carcinoma
1/85 1%
2/1574 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
4/2534 0%
Prostate Carcinoma
0/13 0%
3/2105 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in PDXK 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 369 mutations in PDXK

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