SLC12A8

Solute carrier family 12 member 8 A0AV02 S12A8_HUMAN
Protein Coding Chr 3 3q21.2 Swiss-Prot reviewed Entrez 84561
Mutations
955
CL 149 · Tissue 802
Samples
361
CL 79 · Tissue 280
Peptides
282
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
Mutations955149802
Samples36179280
Peptides28245243

Function

SLC12A8 · Solute carrier family 12 member 8

This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2010].

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
ENST00000469902 A0AV02 379 269
ENST00000393469 A0AV02 340 258
ENST00000430155 A0AV02-3 236 178

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3q21.2
Entrez ID
Aliases
CCC9

Recurrent Mutations

All 269 amino-acid changes on canonical ENST00000469902 · 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 SLC12A8 · 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 SLC12A8 – 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
5/40 12%
0/0 0%
Oral Cavity Carcinoma
3/54 6%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Melanoma
11/210 5%
64/1899 3%
Endometrial Carcinoma
5/42 12%
12/612 2%
Non-Small Cell Lung Carcinoma
16/304 5%
15/1390 1%
Neuroendocrine Tumour
5/154 3%
7/577 1%
Ewings Sarcoma
2/63 3%
2/262 1%
Squamous Cell Lung Carcinoma
1/57 2%
9/810 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Cervical Carcinoma
2/35 6%
3/422 1%
Germ Cell Tumour
1/25 4%
1/169 1%
Glioblastoma
1/98 1%
0/0 0%
Colorectal Carcinoma
8/143 6%
26/3239 1%
Hepatocellular Carcinoma
1/46 2%
20/2210 1%
Small Cell Lung Carcinoma
0/9 0%
7/752 1%
Other Sarcomas
4/69 6%
3/699 0%
Ovarian Carcinoma
2/109 2%
8/998 1%
Gastric Carcinoma
2/74 3%
14/1809 1%
Other Solid Cancers
1/94 1%
12/1515 1%
Bladder Carcinoma
0/58 0%
8/956 1%
Hodgkins Lymphoma
1/16 6%
0/122 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
16/2550 1%
Biliary Tract Carcinoma
0/54 0%
6/950 1%
Head and Neck Carcinoma
1/85 1%
9/1574 1%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Mesothelioma
1/62 2%
0/165 0%
Esophageal Carcinoma
0/23 0%
3/769 0%
Breast Carcinoma
2/144 1%
9/3264 0%
Non-Cancerous
1/104 1%
2/830 0%

Mutation Distribution

Where SLC12A8 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SLC12A8 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 955 mutations in SLC12A8

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