PRPSAP2

Phosphoribosyl pyrophosphate synthetase associated protein 2 O60256 KPRB_HUMAN
Protein Coding Chr 17 17p11.2 Swiss-Prot reviewed Entrez 5636
Mutations
651
CL 111 · Tissue 538
Samples
171
CL 51 · Tissue 118
Peptides
146
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
Mutations651111538
Samples17151118
Peptides14625121

Function

PRPSAP2 · Phosphoribosyl pyrophosphate synthetase associated protein 2

This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011].

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
ENST00000268835 O60256 181 125
ENST00000542013 O60256-3 124 102
ENST00000419071 O60256-2 120 102
ENST00000610773 O60256-4 108 91
ENST00000536323 O60256-4 107 90
ENST00000628609 I3L1T1* 11 10

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17p11.2
Entrez ID
Aliases
PAP41

Recurrent Mutations

All 125 amino-acid changes on canonical ENST00000268835 · 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 PRPSAP2 · 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 PRPSAP2 – 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
2/40 5%
0/0 0%
Endometrial Carcinoma
5/42 12%
12/612 2%
Melanoma
5/210 2%
19/1899 1%
Glioblastoma
1/98 1%
0/0 0%
Osteosarcoma
1/45 2%
1/166 1%
Hodgkins Lymphoma
1/16 6%
0/122 0%
Colorectal Carcinoma
7/143 5%
17/3239 1%
Neuroendocrine Tumour
4/154 3%
1/577 0%
Gastric Carcinoma
3/74 4%
7/1809 0%
Non-Small Cell Lung Carcinoma
6/304 2%
3/1390 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Other Solid Cancers
2/94 2%
6/1515 0%
Bladder Carcinoma
0/58 0%
5/956 1%
Squamous Cell Lung Carcinoma
0/57 0%
4/810 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Glioma
0/52 0%
9/2127 0%
Other Sarcomas
2/69 3%
1/699 0%
Meningioma
1/3 33%
0/252 0%
Esophageal Carcinoma
0/23 0%
3/769 0%
Thyroid Gland Carcinoma
2/45 4%
4/1592 0%
Head and Neck Carcinoma
0/85 0%
6/1574 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
5/2550 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Medulloblastoma
0/0 0%
1/450 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Hepatocellular Carcinoma
2/46 4%
2/2210 0%
Prostate Carcinoma
1/13 8%
2/2105 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
Pancreatic Carcinoma
2/89 2%
0/1611 0%

Mutation Distribution

Where PRPSAP2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PRPSAP2 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 651 mutations in PRPSAP2

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