AQP9

Aquaporin 9 O43315 AQP9_HUMAN
Protein Coding Chr 15 15q21.3 Swiss-Prot reviewed Entrez 366
Mutations
394
CL 41 · Tissue 348
Samples
222
CL 31 · Tissue 187
Peptides
169
unique mutant peptides
Transcripts
2
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
Mutations39441348
Samples22231187
Peptides16922147

Function

AQP9 · Aquaporin 9

The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016].

Isoforms & Proteins

2 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
ENST00000219919 O43315 232 161
ENST00000558772 H0YK62* 162 113

Gene Properties

Type
Protein Coding
Chromosome
15
Cytoband
15q21.3
Entrez ID
Aliases
AQP-9HsT17287SSC1T17287

Recurrent Mutations

All 161 amino-acid changes on canonical ENST00000219919 · 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 AQP9 · 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 AQP9 – 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
Gastrointestinal Stromal Tumour
0/0 0%
3/133 2%
Melanoma
4/210 2%
43/1899 2%
Endometrial Carcinoma
1/42 2%
13/612 2%
Adrenocortical Carcinoma
0/3 0%
2/112 2%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Non-Small Cell Lung Carcinoma
7/304 2%
13/1390 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Bladder Carcinoma
0/58 0%
9/956 1%
Squamous Cell Lung Carcinoma
0/57 0%
7/810 1%
Colorectal Carcinoma
2/143 1%
23/3239 1%
Other Solid Cancers
0/94 0%
9/1515 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Other Sarcomas
2/69 3%
2/699 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
11/2550 0%
Neuroendocrine Tumour
3/154 2%
0/577 0%
Gastric Carcinoma
0/74 0%
7/1809 0%
Head and Neck Carcinoma
1/85 1%
5/1574 0%
Glioma
0/52 0%
7/2127 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Prostate Carcinoma
0/13 0%
6/2105 0%
Ovarian Carcinoma
1/109 1%
2/998 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Non-Cancerous
0/104 0%
2/830 0%
Pancreatic Carcinoma
1/89 1%
2/1611 0%
Breast Carcinoma
3/144 2%
3/3264 0%
Kidney Carcinoma
1/85 1%
2/1862 0%
Other Blood Cancers
0/61 0%
4/2725 0%

Mutation Distribution

Where AQP9 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in AQP9 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 394 mutations in AQP9

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