SLC6A12

Solute carrier family 6 member 12 P48065 S6A12_HUMAN
Protein Coding Chr 12 12p13.33 Swiss-Prot reviewed Entrez 6539
Mutations
1,406
CL 133 · Tissue 1,252
Samples
360
CL 56 · Tissue 298
Peptides
268
unique mutant peptides
Transcripts
5
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
Mutations1,4061331,252
Samples36056298
Peptides26837235

Function

SLC6A12 · Solute carrier family 6 member 12

Enables monocarboxylic acid transmembrane transporter activity. Involved in monocarboxylic acid transport. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Predicted to be active in neuron projection. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

5 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
ENST00000536824 P48065 344 258
ENST00000359674 P48065 343 257
ENST00000397296 P48065 343 257
ENST00000424061 P48065 343 257
ENST00000684302 P48065 33 30

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12p13.33
Entrez ID
Aliases
BGT-1BGT1GAT2

Recurrent Mutations

All 258 amino-acid changes on canonical ENST00000536824 · 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 SLC6A12 · 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 SLC6A12 – 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
Glioblastoma
3/98 3%
0/0 0%
Endometrial Carcinoma
0/42 0%
17/612 3%
Melanoma
5/210 2%
48/1899 3%
Burkitts Lymphoma
5/32 16%
0/196 0%
Hodgkins Lymphoma
2/16 12%
1/122 1%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Squamous Cell Lung Carcinoma
1/57 2%
12/810 1%
Colorectal Carcinoma
11/143 8%
39/3239 1%
Bladder Carcinoma
3/58 5%
10/956 1%
Small Cell Lung Carcinoma
0/9 0%
9/752 1%
Gastric Carcinoma
2/74 3%
18/1809 1%
Other Solid Cancers
0/94 0%
16/1515 1%
Rhabdomyosarcoma
1/33 3%
1/171 1%
Non-Cancerous
0/104 0%
9/830 1%
Neuroendocrine Tumour
7/154 5%
0/577 0%
Non-Small Cell Lung Carcinoma
1/304 0%
14/1390 1%
Plasma Cell Myeloma
1/44 2%
2/305 1%
Other Sarcomas
1/69 1%
5/699 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Ovarian Carcinoma
2/109 2%
4/998 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Biliary Tract Carcinoma
0/54 0%
5/950 1%
Glioma
0/52 0%
10/2127 0%
Kidney Carcinoma
0/85 0%
9/1862 0%
Medulloblastoma
0/0 0%
2/450 0%
Esophageal Squamous Cell Carcinoma
4/51 8%
7/2550 0%
Prostate Carcinoma
0/13 0%
9/2105 0%
Hepatocellular Carcinoma
2/46 4%
7/2210 0%
Esophageal Carcinoma
0/23 0%
3/769 0%

Mutation Distribution

Where SLC6A12 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SLC6A12 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 1,406 mutations in SLC6A12

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