AMPD2

Adenosine monophosphate deaminase 2 Q01433 AMPD2_HUMAN
Protein Coding Chr 1 1p13.3 Swiss-Prot reviewed Entrez 271
Mutations
901
CL 123 · Tissue 752
Samples
352
CL 70 · Tissue 270
Peptides
402
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
Mutations901123752
Samples35270270
Peptides40268346

Function

AMPD2 · Adenosine monophosphate deaminase 2

The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012].

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
ENST00000342115 Q01433-2 366 279
ENST00000528454 Q01433-5 355 278
ENST00000528667 Q01433 99 85
ENST00000256578 Q01433 34 29
ENST00000358729 A0A804CCZ3* 33 21
ENST00000531734 Q01433-2 14 14

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1p13.3
Entrez ID
Aliases
AMPDPCH9SPG63

Recurrent Mutations

All 279 amino-acid changes on canonical ENST00000342115 · 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 AMPD2 · 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 AMPD2 – 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%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Endometrial Carcinoma
3/42 7%
18/612 3%
Thymic Epithelial Tumor
0/0 0%
1/39 3%
Gastric Carcinoma
2/74 3%
36/1809 2%
Colorectal Carcinoma
13/143 9%
53/3239 2%
Cervical Carcinoma
3/35 9%
4/422 1%
Melanoma
1/210 0%
26/1899 1%
Other Solid Cancers
3/94 3%
14/1515 1%
Glioblastoma
1/98 1%
0/0 0%
Non-Small Cell Lung Carcinoma
5/304 2%
12/1390 1%
Bladder Carcinoma
0/58 0%
9/956 1%
Mesothelioma
0/62 0%
2/165 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Other Sarcomas
2/69 3%
3/699 0%
Ovarian Carcinoma
1/109 1%
6/998 1%
Ewings Sarcoma
1/63 2%
1/262 0%
Squamous Cell Lung Carcinoma
0/57 0%
5/810 1%
Plasma Cell Myeloma
2/44 5%
0/305 0%
Kidney Carcinoma
2/85 2%
9/1862 0%
Hepatocellular Carcinoma
2/46 4%
10/2210 0%
Esophageal Carcinoma
0/23 0%
4/769 1%
Glioma
0/52 0%
11/2127 1%
Burkitts Lymphoma
1/32 3%
0/196 0%
Medulloblastoma
0/0 0%
2/450 0%
Thyroid Gland Carcinoma
0/45 0%
7/1592 0%
Prostate Carcinoma
3/13 23%
6/2105 0%
Pancreatic Carcinoma
1/89 1%
6/1611 0%
Neuroendocrine Tumour
3/154 2%
0/577 0%

Mutation Distribution

Where AMPD2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in AMPD2 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 901 mutations in AMPD2

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