SETD4

SET domain containing 4 Q9NVD3 SETD4_HUMAN
Protein Coding Chr 21 21q22.12 Swiss-Prot reviewed Entrez 54093
Mutations
1,104
CL 131 · Tissue 967
Samples
213
CL 38 · Tissue 171
Peptides
154
unique mutant peptides
Transcripts
7
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
Mutations1,104131967
Samples21338171
Peptides15424130

Function

SETD4 · SET domain containing 4

Enables histone methyltransferase activity (H4-K20 specific). Involved in histone H4-K20 trimethylation. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

7 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
ENST00000332131 Q9NVD3 218 146
ENST00000399215 Q9NVD3 195 139
ENST00000399212 Q9NVD3-3 181 132
ENST00000399207 Q9NVD3-4 134 99
ENST00000399208 Q9NVD3-4 134 99
ENST00000399201 A8MTS1* 121 93
ENST00000399205 A8MTS1* 121 93

Gene Properties

Type
Protein Coding
Chromosome
21
Cytoband
21q22.12
Entrez ID
Aliases
C21orf18C21orf27

Recurrent Mutations

All 146 amino-acid changes on canonical ENST00000332131 · 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 SETD4 · 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 SETD4 – 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
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
Endometrial Carcinoma
4/42 10%
11/612 2%
Bladder Carcinoma
0/58 0%
18/956 2%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Chondrosarcoma
0/14 0%
1/75 1%
Melanoma
3/210 1%
20/1899 1%
Ovarian Carcinoma
6/109 6%
5/998 0%
Ewings Sarcoma
2/63 3%
1/262 0%
Colorectal Carcinoma
4/143 3%
27/3239 1%
Mesothelioma
2/62 3%
0/165 0%
Plasma Cell Myeloma
0/44 0%
3/305 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Squamous Cell Lung Carcinoma
0/57 0%
6/810 1%
Wilms Tumour
0/5 0%
3/474 1%
Non-Small Cell Lung Carcinoma
3/304 1%
7/1390 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
13/2550 1%
Gastric Carcinoma
2/74 3%
8/1809 0%
Other Solid Cancers
0/94 0%
7/1515 0%
Neuroendocrine Tumour
0/154 0%
2/577 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Other Sarcomas
0/69 0%
2/699 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
Glioma
1/52 2%
4/2127 0%
Breast Carcinoma
2/144 1%
6/3264 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Medulloblastoma
0/0 0%
1/450 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
4/2534 0%
Pancreatic Carcinoma
0/89 0%
3/1611 0%
Hepatocellular Carcinoma
0/46 0%
4/2210 0%
Kidney Carcinoma
0/85 0%
3/1862 0%

Mutation Distribution

Where SETD4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SETD4 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 1,104 mutations in SETD4

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