PUDP

Pseudouridine 5'-phosphatase Q08623 HDHD1_HUMAN
Protein Coding Chr X Xp22.31 Swiss-Prot reviewed Entrez 8226
Mutations
381
CL 46 · Tissue 332
Samples
148
CL 21 · Tissue 126
Peptides
119
unique mutant peptides
Transcripts
4
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
Mutations38146332
Samples14821126
Peptides11915105

Function

PUDP · Pseudouridine 5'-phosphatase

This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010].

Isoforms & Proteins

4 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
ENST00000381077 Q08623 145 93
ENST00000424830 Q08623-4 124 91
ENST00000412827 Q08623-2 98 73
ENST00000486446 Q08623-3 14 7

Gene Properties

Type
Protein Coding
Chromosome
X
Cytoband
Xp22.31
Entrez ID
Aliases
DXF68S1EFAM16AXGS1HDHD1HDHD1A

Recurrent Mutations

All 93 amino-acid changes on canonical ENST00000381077 · 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 PUDP · 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 PUDP – 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
Endometrial Carcinoma
0/42 0%
12/612 2%
Non-Small Cell Lung Carcinoma
6/304 2%
14/1390 1%
Cervical Carcinoma
0/35 0%
4/422 1%
Gastric Carcinoma
4/74 5%
9/1809 0%
Colorectal Carcinoma
4/143 3%
18/3239 1%
Melanoma
0/210 0%
13/1899 1%
Non-Cancerous
0/104 0%
5/830 1%
Osteosarcoma
1/45 2%
0/166 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Neuroendocrine Tumour
1/154 1%
2/577 0%
Bladder Carcinoma
0/58 0%
4/956 0%
Squamous Cell Lung Carcinoma
2/57 4%
1/810 0%
Thyroid Gland Carcinoma
0/45 0%
5/1592 0%
Hepatocellular Carcinoma
0/46 0%
7/2210 0%
Other Solid Cancers
0/94 0%
5/1515 0%
Breast Carcinoma
0/144 0%
7/3264 0%
Kidney Carcinoma
0/85 0%
3/1862 0%
Prostate Carcinoma
0/13 0%
3/2105 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
Other Sarcomas
0/69 0%
1/699 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
Head and Neck Carcinoma
0/85 0%
2/1574 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
3/2550 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Glioma
1/52 2%
1/2127 0%
B-Lymphoblastic Leukemia
2/55 4%
0/2640 0%
Other Blood Cancers
0/61 0%
2/2725 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
1/2534 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in PUDP 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 381 mutations in PUDP

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