SIRT4

Sirtuin 4 Q9Y6E7 SIR4_HUMAN
Protein Coding Chr 12 12q24.23-q24.31 Swiss-Prot reviewed Entrez 23409
Mutations
195
CL 33 · Tissue 160
Samples
188
CL 31 · Tissue 155
Peptides
119
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
Mutations19533160
Samples18831155
Peptides11921101

Function

SIRT4 · Sirtuin 4

This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq, Jul 2008].

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
ENST00000202967 Q9Y6E7 195 119

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q24.23-q24.31
Entrez ID
Aliases
SIR2L4

Recurrent Mutations

All 119 amino-acid changes on canonical ENST00000202967 · 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 SIRT4 · 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 SIRT4 – 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
Endometrial Carcinoma
3/42 7%
10/612 2%
Other Solid Cancers
0/94 0%
23/1515 2%
Colorectal Carcinoma
8/143 6%
28/3239 1%
Esophageal Squamous Cell Carcinoma
2/51 4%
22/2550 1%
Melanoma
2/210 1%
17/1899 1%
Neuroendocrine Tumour
4/154 3%
2/577 0%
Non-Small Cell Lung Carcinoma
1/304 0%
7/1390 0%
Ovarian Carcinoma
2/109 2%
3/998 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Gastric Carcinoma
0/74 0%
8/1809 0%
Squamous Cell Lung Carcinoma
0/57 0%
3/810 0%
Non-Cancerous
0/104 0%
3/830 0%
Bladder Carcinoma
0/58 0%
3/956 0%
B-Cell Non-Hodgkins Lymphoma
3/88 3%
4/2534 0%
Medulloblastoma
0/0 0%
1/450 0%
Glioma
0/52 0%
4/2127 0%
Breast Carcinoma
0/144 0%
6/3264 0%
Head and Neck Carcinoma
0/85 0%
3/1574 0%
Kidney Carcinoma
0/85 0%
3/1862 0%
Hepatocellular Carcinoma
2/46 4%
1/2210 0%
B-Lymphoblastic Leukemia
3/55 5%
0/2640 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Prostate Carcinoma
0/13 0%
2/2105 0%
Neuroblastoma
1/87 1%
0/1331 0%
Thyroid Gland Carcinoma
0/45 0%
1/1592 0%

Mutation Distribution

Where SIRT4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SIRT4 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 195 mutations in SIRT4

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