SLC13A5

Solute carrier family 13 member 5 Q86YT5 S13A5_HUMAN
Protein Coding Chr 17 17p13.1 Swiss-Prot reviewed Entrez 284111
Mutations
1,212
CL 189 · Tissue 987
Samples
321
CL 72 · Tissue 240
Peptides
254
unique mutant peptides
Transcripts
4
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
Mutations1,212189987
Samples32172240
Peptides25451215

Function

SLC13A5 · Solute carrier family 13 member 5

This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014].

Isoforms & Proteins

4 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
ENST00000433363 Q86YT5 336 231
ENST00000293800 Q86YT5-3 296 219
ENST00000381074 Q86YT5-4 292 214
ENST00000573648 Q86YT5-2 288 210

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17p13.1
Entrez ID
Aliases
DEE25EIEE25INDYNACTmIndy

Recurrent Mutations

All 231 amino-acid changes on canonical ENST00000433363 · 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 SLC13A5 · 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 SLC13A5 – 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
1/42 2%
16/612 3%
Germ Cell Tumour
2/25 8%
2/169 1%
Melanoma
2/210 1%
37/1899 2%
Colorectal Carcinoma
18/143 13%
44/3239 1%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Gastric Carcinoma
6/74 8%
19/1809 1%
Non-Small Cell Lung Carcinoma
12/304 4%
10/1390 1%
Neuroendocrine Tumour
7/154 5%
2/577 0%
Biliary Tract Carcinoma
0/54 0%
12/950 1%
Chondrosarcoma
1/14 7%
0/75 0%
Other Solid Cancers
0/94 0%
17/1515 1%
Squamous Cell Lung Carcinoma
2/57 4%
7/810 1%
Glioblastoma
1/98 1%
0/0 0%
Bladder Carcinoma
2/58 3%
5/956 1%
Ewings Sarcoma
2/63 3%
0/262 0%
Non-Cancerous
1/104 1%
4/830 0%
Esophageal Carcinoma
0/23 0%
4/769 1%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Glioma
0/52 0%
10/2127 0%
Mesothelioma
1/62 2%
0/165 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Head and Neck Carcinoma
0/85 0%
7/1574 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
8/2550 0%
Thyroid Gland Carcinoma
0/45 0%
6/1592 0%
Kidney Carcinoma
1/85 1%
5/1862 0%
Hepatocellular Carcinoma
0/46 0%
7/2210 0%
Prostate Carcinoma
0/13 0%
5/2105 0%
B-Cell Non-Hodgkins Lymphoma
3/88 3%
3/2534 0%
Medulloblastoma
0/0 0%
1/450 0%

Mutation Distribution

Where SLC13A5 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SLC13A5 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 1,212 mutations in SLC13A5

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