ASIC3

Acid sensing ion channel subunit 3 Q9UHC3 ASIC3_HUMAN
Protein Coding Chr 7 7q36.1 Swiss-Prot reviewed Entrez 9311
Mutations
842
CL 136 · Tissue 697
Samples
325
CL 75 · Tissue 245
Peptides
284
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
Mutations842136697
Samples32575245
Peptides28457232

Function

ASIC3 · Acid sensing ion channel subunit 3

This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012].

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
ENST00000349064 Q9UHC3 309 226
ENST00000297512 Q9UHC3-3 271 210
ENST00000357922 Q9UHC3-2 262 203

Gene Properties

Type
Protein Coding
Chromosome
7
Cytoband
7q36.1
Entrez ID
Aliases
ACCN3DRASICSLNAC1TNaC1

Recurrent Mutations

All 226 amino-acid changes on canonical ENST00000349064 · 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 ASIC3 · 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 ASIC3 – 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%
Acute Myeloid Leukemia
3/90 3%
0/0 0%
Endometrial Carcinoma
6/42 14%
14/612 2%
Cervical Carcinoma
0/35 0%
10/422 2%
Colorectal Carcinoma
16/143 11%
43/3239 1%
Melanoma
1/210 0%
29/1899 2%
Other Solid Cancers
2/94 2%
18/1515 1%
Esophageal Carcinoma
1/23 4%
8/769 1%
Glioblastoma
1/98 1%
0/0 0%
Non-Small Cell Lung Carcinoma
5/304 2%
12/1390 1%
Burkitts Lymphoma
2/32 6%
0/196 0%
Gastric Carcinoma
2/74 3%
12/1809 1%
Ovarian Carcinoma
3/109 3%
5/998 0%
Breast Carcinoma
6/144 4%
15/3264 0%
Hepatocellular Carcinoma
3/46 7%
10/2210 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
13/2550 1%
Plasma Cell Myeloma
1/44 2%
1/305 0%
Neuroendocrine Tumour
3/154 2%
1/577 0%
Head and Neck Carcinoma
1/85 1%
8/1574 1%
Germ Cell Tumour
1/25 4%
0/169 0%
Squamous Cell Lung Carcinoma
0/57 0%
4/810 0%
Medulloblastoma
0/0 0%
2/450 0%
Mesothelioma
1/62 2%
0/165 0%
Glioma
0/52 0%
9/2127 0%
Pancreatic Carcinoma
2/89 2%
5/1611 0%
Bladder Carcinoma
0/58 0%
4/956 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Non-Cancerous
1/104 1%
2/830 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Thyroid Gland Carcinoma
0/45 0%
5/1592 0%

Mutation Distribution

Where ASIC3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ASIC3 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 842 mutations in ASIC3

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