SETD7

SET domain containing 7, histone lysine methyltransferase Q8WTS6 SETD7_HUMAN
Protein Coding Chr 4 4q31.1 Swiss-Prot reviewed Entrez 80854
Mutations
386
CL 73 · Tissue 304
Samples
204
CL 51 · Tissue 148
Peptides
150
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
Mutations38673304
Samples20451148
Peptides15026123

Function

SETD7 · SET domain containing 7, histone lysine methyltransferase

Enables histone-lysine N-methyltransferase activity and p53 binding activity. Involved in peptidyl-lysine dimethylation and peptidyl-lysine monomethylation. Acts upstream of or within cellular response to DNA damage stimulus and heterochromatin organization. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]

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
ENST00000274031 Q8WTS6 181 130
ENST00000506866 D6RJA0* 142 107
ENST00000404104 B5MCZ8* 62 41
ENST00000608958 V9GY19* 1 1

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4q31.1
Entrez ID
Aliases
KMT7SET7SET7/9SET9

Recurrent Mutations

All 130 amino-acid changes on canonical ENST00000274031 · 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 SETD7 · 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 SETD7 – 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-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
5/133 4%
Endometrial Carcinoma
5/42 12%
11/612 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Melanoma
11/210 5%
18/1899 1%
Colorectal Carcinoma
6/143 4%
27/3239 1%
Non-Small Cell Lung Carcinoma
7/304 2%
7/1390 0%
Gastric Carcinoma
0/74 0%
12/1809 1%
Esophageal Carcinoma
0/23 0%
5/769 1%
Other Solid Cancers
2/94 2%
7/1515 0%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Germ Cell Tumour
1/25 4%
0/169 0%
Bladder Carcinoma
0/58 0%
5/956 1%
Osteosarcoma
1/45 2%
0/166 0%
Mesothelioma
1/62 2%
0/165 0%
Head and Neck Carcinoma
1/85 1%
6/1574 0%
Hepatocellular Carcinoma
1/46 2%
8/2210 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Glioma
0/52 0%
6/2127 0%
Neuroendocrine Tumour
2/154 1%
0/577 0%
Other Sarcomas
0/69 0%
2/699 0%
Breast Carcinoma
1/144 1%
8/3264 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
4/2534 0%
Prostate Carcinoma
0/13 0%
4/2105 0%
B-Lymphoblastic Leukemia
5/55 9%
0/2640 0%
Ovarian Carcinoma
0/109 0%
2/998 0%
Thyroid Gland Carcinoma
0/45 0%
2/1592 0%
Pancreatic Carcinoma
1/89 1%
1/1611 0%

Mutation Distribution

Where SETD7 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SETD7 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 386 mutations in SETD7

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