AP2M1

Adaptor related protein complex 2 subunit mu 1 Q96CW1 AP2M1_HUMAN
Protein Coding Chr 3 3q27.1 Swiss-Prot reviewed Entrez 1173
Mutations
876
CL 109 · Tissue 762
Samples
211
CL 38 · Tissue 169
Peptides
183
unique mutant peptides
Transcripts
7
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
Mutations876109762
Samples21138169
Peptides18331159

Function

AP2M1 · Adaptor related protein complex 2 subunit mu 1

This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015].

Isoforms & Proteins

7 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
ENST00000292807 Q96CW1 224 156
ENST00000411763 E9PFW3* 192 143
ENST00000382456 Q96CW1-2 190 141
ENST00000439647 Q96CW1-2 190 141
ENST00000621863 Q96CW1-2 76 56
ENST00000442686 H7C4C3* 2 2
ENST00000686364 A0A8I5KWD3* 2 2

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3q27.1
Entrez ID
Aliases
AP50CLAPM1MRD60mu2

Recurrent Mutations

All 156 amino-acid changes on canonical ENST00000292807 · 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 AP2M1 · 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 AP2M1 – 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
3/42 7%
15/612 2%
Squamous Cell Lung Carcinoma
2/57 4%
7/810 1%
Glioblastoma
1/98 1%
0/0 0%
Osteosarcoma
0/45 0%
2/166 1%
Melanoma
3/210 1%
16/1899 1%
Cervical Carcinoma
0/35 0%
4/422 1%
Other Solid Cancers
2/94 2%
12/1515 1%
Colorectal Carcinoma
5/143 4%
23/3239 1%
Non-Small Cell Lung Carcinoma
1/304 0%
13/1390 1%
Bladder Carcinoma
1/58 2%
5/956 1%
Gastric Carcinoma
0/74 0%
11/1809 1%
Neuroendocrine Tumour
2/154 1%
2/577 0%
Head and Neck Carcinoma
2/85 2%
7/1574 0%
Other Sarcomas
0/69 0%
4/699 1%
Glioma
0/52 0%
10/2127 0%
Thyroid Gland Carcinoma
1/45 2%
6/1592 0%
Biliary Tract Carcinoma
1/54 2%
3/950 0%
Meningioma
0/3 0%
1/252 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
9/2550 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Hepatocellular Carcinoma
0/46 0%
6/2210 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Prostate Carcinoma
4/13 31%
1/2105 0%
Pancreatic Carcinoma
0/89 0%
4/1611 0%
B-Lymphoblastic Leukemia
6/55 11%
0/2640 0%
Ovarian Carcinoma
0/109 0%
2/998 0%
Breast Carcinoma
0/144 0%
5/3264 0%
Kidney Carcinoma
2/85 2%
1/1862 0%
Non-Cancerous
0/104 0%
1/830 0%

Mutation Distribution

Where AP2M1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in AP2M1 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 876 mutations in AP2M1

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