SPOP

Speckle type BTB/POZ protein O43791 SPOP_HUMAN
Protein Coding Chr 17 17q21.33 Swiss-Prot reviewed Entrez 8405
Mutations
1,919
CL 119 · Tissue 1,784
Samples
503
CL 56 · Tissue 440
Peptides
210
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
Mutations1,9191191,784
Samples50356440
Peptides21032186

Function

SPOP · Speckle type BTB/POZ protein

This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008].

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
ENST00000504102 O43791 509 210
ENST00000347630 O43791 470 200
ENST00000393328 O43791 470 200
ENST00000503676 O43791 470 200

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17q21.33
Entrez ID
Aliases
BTBD32NEDMACENEDMIDFNSDVS1NSDVS2TEF2

Recurrent Mutations

All 210 amino-acid changes on canonical ENST00000504102 · 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 SPOP · 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 SPOP – 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
4/42 10%
55/612 9%
Prostate Carcinoma
0/13 0%
185/2105 9%
T-Lymphoblastic Leukemia
2/40 5%
0/0 0%
Glioblastoma
4/98 4%
0/0 0%
Hodgkins Lymphoma
0/16 0%
2/122 2%
Colorectal Carcinoma
14/143 10%
26/3239 1%
Melanoma
1/210 0%
22/1899 1%
Bladder Carcinoma
2/58 3%
8/956 1%
Non-Cancerous
0/104 0%
9/830 1%
Ovarian Carcinoma
4/109 4%
6/998 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
21/2550 1%
Biliary Tract Carcinoma
0/54 0%
8/950 1%
Small Cell Lung Carcinoma
0/9 0%
6/752 1%
Other Sarcomas
2/69 3%
4/699 1%
Other Solid Cancers
3/94 3%
9/1515 1%
Non-Small Cell Lung Carcinoma
5/304 2%
7/1390 0%
Glioma
0/52 0%
12/2127 1%
Gastric Carcinoma
0/74 0%
9/1809 0%
Head and Neck Carcinoma
2/85 2%
6/1574 0%
Osteosarcoma
0/45 0%
1/166 1%
Cervical Carcinoma
0/35 0%
2/422 0%
Neuroendocrine Tumour
3/154 2%
0/577 0%
Hepatocellular Carcinoma
0/46 0%
9/2210 0%
Meningioma
0/3 0%
1/252 0%
B-Cell Non-Hodgkins Lymphoma
4/88 5%
6/2534 0%
Breast Carcinoma
3/144 2%
8/3264 0%
Kidney Carcinoma
0/85 0%
6/1862 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Esophageal Carcinoma
0/23 0%
2/769 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in SPOP 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 1,919 mutations in SPOP

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