ATP8A1

ATPase phospholipid transporting 8A1 Q9Y2Q0 AT8A1_HUMAN
Protein Coding Chr 4 4p13 Swiss-Prot reviewed Entrez 10396
Mutations
1,292
CL 172 · Tissue 1,096
Samples
611
CL 109 · Tissue 490
Peptides
506
unique mutant peptides
Transcripts
3
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
Mutations1,2921721,096
Samples611109490
Peptides50674426

Function

ATP8A1 · ATPase phospholipid transporting 8A1

The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

3 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
ENST00000381668 Q9Y2Q0 677 485
ENST00000264449 Q9Y2Q0-3 599 450
ENST00000510289 F6TAR9* 16 13

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4p13
Entrez ID
Aliases
ATPASEIIATPIAATPP2

Recurrent Mutations

All 485 amino-acid changes on canonical ENST00000381668 · 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 ATP8A1 · 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 ATP8A1 – 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
6/40 15%
0/0 0%
Endometrial Carcinoma
6/42 14%
33/612 5%
Melanoma
11/210 5%
101/1899 5%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Other Solid Cancers
3/94 3%
44/1515 3%
Unknown
0/10 0%
1/29 3%
Squamous Cell Lung Carcinoma
4/57 7%
18/810 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Non-Small Cell Lung Carcinoma
19/304 6%
16/1390 1%
Glioblastoma
2/98 2%
0/0 0%
Bladder Carcinoma
1/58 2%
19/956 2%
Colorectal Carcinoma
16/143 11%
49/3239 2%
Burkitts Lymphoma
3/32 9%
1/196 1%
Other Sarcomas
8/69 12%
4/699 1%
Small Cell Lung Carcinoma
0/9 0%
11/752 1%
Head and Neck Carcinoma
1/85 1%
21/1574 1%
Hepatocellular Carcinoma
1/46 2%
28/2210 1%
Gastric Carcinoma
0/74 0%
24/1809 1%
Chondrosarcoma
0/14 0%
1/75 1%
Biliary Tract Carcinoma
1/54 2%
10/950 1%
Esophageal Squamous Cell Carcinoma
3/51 6%
25/2550 1%
Glioma
0/52 0%
20/2127 1%
Medulloblastoma
0/0 0%
4/450 1%
Cervical Carcinoma
1/35 3%
3/422 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Neuroendocrine Tumour
4/154 3%
2/577 0%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Non-Cancerous
1/104 1%
5/830 1%
Plasma Cell Myeloma
0/44 0%
2/305 1%
Thyroid Gland Carcinoma
2/45 4%
7/1592 0%

Mutation Distribution

Where ATP8A1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ATP8A1 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 1,292 mutations in ATP8A1

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