SLC2A1

Solute carrier family 2 member 1 P11166 GTR1_HUMAN
Protein Coding Chr 1 1p34.2 Swiss-Prot reviewed Entrez 6513
Mutations
239
CL 33 · Tissue 195
Samples
224
CL 28 · Tissue 188
Peptides
149
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
Mutations23933195
Samples22428188
Peptides14921127

Function

SLC2A1 · Solute carrier family 2 member 1

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013].

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
ENST00000426263 P11166 238 148
ENST00000460369 A0A1W2PQ59* 1 1

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1p34.2
Entrez ID
Aliases
CSEDYT17DYT18DYT9EIG12GLUT

Recurrent Mutations

All 148 amino-acid changes on canonical ENST00000426263 · 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 SLC2A1 · 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 SLC2A1 – 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
3/40 8%
0/0 0%
Endometrial Carcinoma
2/42 5%
15/612 2%
Other Solid Cancers
0/94 0%
36/1515 2%
Cervical Carcinoma
0/35 0%
7/422 2%
Colorectal Carcinoma
9/143 6%
34/3239 1%
Melanoma
5/210 2%
19/1899 1%
Gastric Carcinoma
0/74 0%
15/1809 1%
Meningioma
0/3 0%
2/252 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Neuroendocrine Tumour
1/154 1%
4/577 1%
Biliary Tract Carcinoma
0/54 0%
5/950 1%
Bladder Carcinoma
0/58 0%
5/956 1%
Head and Neck Carcinoma
1/85 1%
6/1574 0%
Glioma
0/52 0%
7/2127 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Prostate Carcinoma
0/13 0%
6/2105 0%
Hepatocellular Carcinoma
0/46 0%
6/2210 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
Non-Small Cell Lung Carcinoma
3/304 1%
1/1390 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
6/2550 0%
Ovarian Carcinoma
0/109 0%
2/998 0%
Breast Carcinoma
0/144 0%
6/3264 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Other Sarcomas
0/69 0%
1/699 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
Squamous Cell Lung Carcinoma
0/57 0%
1/810 0%
Non-Cancerous
0/104 0%
1/830 0%
Kidney Carcinoma
2/85 2%
0/1862 0%
Neuroblastoma
0/87 0%
1/1331 0%
Other Blood Cancers
1/61 2%
0/2725 0%

Mutation Distribution

Where SLC2A1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SLC2A1 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 239 mutations in SLC2A1

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