PRDM6

PR/SET domain 6 Q9NQX0 PRDM6_HUMAN
Protein Coding Chr 5 5q23.2 Swiss-Prot reviewed Entrez 93166
Mutations
271
CL 51 · Tissue 214
Samples
261
CL 50 · Tissue 205
Peptides
182
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
Mutations27151214
Samples26150205
Peptides18239140

Function

PRDM6 · PR/SET domain 6

The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017].

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
ENST00000407847 Q9NQX0 271 182

Gene Properties

Type
Protein Coding
Chromosome
5
Cytoband
5q23.2
Entrez ID
Aliases
KMT8CPDA3PRISM

Recurrent Mutations

All 182 amino-acid changes on canonical ENST00000407847 · 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 PRDM6 · 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 PRDM6 – 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
2/40 5%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Endometrial Carcinoma
1/42 2%
17/612 3%
Gastrointestinal Stromal Tumour
0/0 0%
3/133 2%
Glioblastoma
2/98 2%
0/0 0%
Melanoma
4/210 2%
27/1899 1%
Pheochromocytoma and Paraganglioma
0/0 0%
1/71 1%
Gastric Carcinoma
3/74 4%
23/1809 1%
Chondrosarcoma
1/14 7%
0/75 0%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Neuroendocrine Tumour
2/154 1%
6/577 1%
Thyroid Gland Carcinoma
3/45 7%
14/1592 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
27/2550 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Colorectal Carcinoma
3/143 2%
24/3239 1%
Small Cell Lung Carcinoma
0/9 0%
6/752 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Non-Small Cell Lung Carcinoma
6/304 2%
6/1390 0%
Non-Cancerous
1/104 1%
5/830 1%
Esophageal Carcinoma
0/23 0%
5/769 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Other Sarcomas
0/69 0%
4/699 1%
Ovarian Carcinoma
4/109 4%
1/998 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
B-Cell Non-Hodgkins Lymphoma
3/88 3%
5/2534 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Breast Carcinoma
2/144 1%
7/3264 0%
Other Solid Cancers
1/94 1%
3/1515 0%
Squamous Cell Lung Carcinoma
1/57 2%
1/810 0%

Mutation Distribution

Where PRDM6 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PRDM6 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 271 mutations in PRDM6

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