SLC6A1 Solute carrier family 6 member 1 P30531 SC6A1_HUMAN
Protein Coding Chr 3 3p25.3 Swiss-Prot reviewed Entrez 6529
Mutations
9,655
CL 651 · Tissue 8,757
Samples
413
CL 66 · Tissue 337
Peptides
327
unique mutant peptides
Transcripts
28
isoforms mutated

Stats by Source

Global, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Global = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Global can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

GlobalCell lineTissue
Mutations9,6556518,757
Samples41366337
Peptides32741299

Function

SLC6A1 · Solute carrier family 6 member 1

The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017].

Isoforms & Proteins

28 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
ENST00000287766 P30531 433 288
ENST00000644803 A0A2R8YDD5* 389 279
ENST00000642201 P30531 388 278
ENST00000642515 P30531 388 278
ENST00000642639 P30531 388 278
ENST00000642735 P30531 388 278
ENST00000642767 P30531 388 278
ENST00000642820 P30531 388 278
ENST00000643396 P30531 388 278
ENST00000643498 P30531 388 278
ENST00000645029 P30531 388 278
ENST00000645054 P30531 388 278
ENST00000645592 P30531 388 278
ENST00000645974 P30531 388 278
ENST00000646022 P30531 388 278
ENST00000646060 P30531 388 278
ENST00000646570 P30531 388 278
ENST00000646702 P30531 388 278
ENST00000646924 P30531 388 278
ENST00000647194 P30531 388 278
ENST00000646487 A0A2R8Y867* 289 205
ENST00000644314 A0A2R8Y4I3* 287 207
ENST00000645281 B7Z3C5* 267 190
ENST00000645776 B7Z3C5* 267 190
ENST00000646072 B7Z3C5* 267 190
ENST00000647384 A0A2R8YCM3* 236 172
ENST00000644175 A0A2R8Y495* 118 83
ENST00000646088 A0A2R8Y495* 118 83

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3p25.3
Entrez ID
Aliases
GABATHGGABATRGAT1MAEhGAT-1

Recurrent Mutations

Top recurrent amino-acid changes along the protein · needle height = number of mutations

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 Distribution

Where SLC6A1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SLC6A1 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 9,655 mutations in SLC6A1

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 CDSTypeSourcePeptide