P4HTM

Prolyl 4-hydroxylase, transmembrane Q9NXG6 P4HTM_HUMAN
Protein Coding Chr 3 3p21.31|3p21.3 Swiss-Prot reviewed Entrez 54681
Mutations
456
CL 69 · Tissue 374
Samples
250
CL 52 · Tissue 193
Peptides
175
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
Mutations45669374
Samples25052193
Peptides17526143

Function

P4HTM · Prolyl 4-hydroxylase, transmembrane

The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].

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
ENST00000383729 Q9NXG6 233 141
ENST00000343546 Q9NXG6-3 223 157

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3p21.31|3p21.3
Entrez ID
Aliases
EGLN4HIDEAHIFPH4P4H-TMPH-4PH4

Recurrent Mutations

All 141 amino-acid changes on canonical ENST00000383729 · 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 P4HTM · 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 P4HTM – 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
4/40 10%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Unknown
1/10 10%
0/29 0%
Bladder Carcinoma
0/58 0%
22/956 2%
Endometrial Carcinoma
5/42 12%
9/612 1%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Melanoma
4/210 2%
22/1899 1%
Thyroid Gland Carcinoma
3/45 7%
15/1592 1%
Colorectal Carcinoma
6/143 4%
22/3239 1%
Ovarian Carcinoma
3/109 3%
6/998 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Gastric Carcinoma
0/74 0%
14/1809 1%
Other Solid Cancers
0/94 0%
11/1515 1%
Other Sarcomas
2/69 3%
3/699 0%
Head and Neck Carcinoma
1/85 1%
9/1574 1%
Non-Small Cell Lung Carcinoma
1/304 0%
9/1390 1%
Non-Cancerous
1/104 1%
4/830 0%
Squamous Cell Lung Carcinoma
2/57 4%
2/810 0%
Mesothelioma
1/62 2%
0/165 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Biliary Tract Carcinoma
0/54 0%
4/950 0%
Meningioma
0/3 0%
1/252 0%
Esophageal Carcinoma
2/23 9%
1/769 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
9/2550 0%
Kidney Carcinoma
3/85 4%
3/1862 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
Hepatocellular Carcinoma
0/46 0%
6/2210 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Pancreatic Carcinoma
3/89 3%
1/1611 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
5/2534 0%

Mutation Distribution

Where P4HTM is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in P4HTM 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 456 mutations in P4HTM

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