SLC5A5

Solute carrier family 5 member 5 Q92911 SC5A5_HUMAN
Protein Coding Chr 19 19p13.11 Swiss-Prot reviewed Entrez 6528
Mutations
421
CL 79 · Tissue 333
Samples
401
CL 75 · Tissue 318
Peptides
287
unique mutant peptides
Transcripts
1
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
Mutations42179333
Samples40175318
Peptides28757236

Function

SLC5A5 · Solute carrier family 5 member 5

This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009].

Isoforms & Proteins

1 transcript · 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
ENST00000222248 Q92911 421 287

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19p13.11
Entrez ID
Aliases
NISTDH1

Recurrent Mutations

All 286 amino-acid changes on canonical ENST00000222248 · 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 SLC5A5 · 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 SLC5A5 – 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
6/40 15%
0/0 0%
Chronic Myelogenous Leukemia
3/25 12%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Melanoma
10/210 5%
47/1899 2%
Endometrial Carcinoma
5/42 12%
10/612 2%
Glioblastoma
2/98 2%
0/0 0%
Bladder Carcinoma
2/58 3%
16/956 2%
Colorectal Carcinoma
6/143 4%
50/3239 2%
Squamous Cell Lung Carcinoma
3/57 5%
10/810 1%
Other Solid Cancers
2/94 2%
20/1515 1%
Gastric Carcinoma
2/74 3%
23/1809 1%
Chondrosarcoma
1/14 7%
0/75 0%
Neuroendocrine Tumour
6/154 4%
1/577 0%
Non-Small Cell Lung Carcinoma
2/304 1%
14/1390 1%
Head and Neck Carcinoma
1/85 1%
14/1574 1%
Meningioma
0/3 0%
2/252 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Thyroid Gland Carcinoma
0/45 0%
12/1592 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Small Cell Lung Carcinoma
0/9 0%
5/752 1%
Glioma
0/52 0%
14/2127 1%
Esophageal Carcinoma
1/23 4%
4/769 1%
Biliary Tract Carcinoma
1/54 2%
5/950 1%
Hepatocellular Carcinoma
2/46 4%
11/2210 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
15/2550 1%
Non-Cancerous
0/104 0%
5/830 1%
Germ Cell Tumour
1/25 4%
0/169 0%
Osteosarcoma
0/45 0%
1/166 1%
Burkitts Lymphoma
1/32 3%
0/196 0%
Neuroblastoma
1/87 1%
5/1331 0%

Mutation Distribution

Where SLC5A5 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SLC5A5 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 421 mutations in SLC5A5

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