THAP1

THAP domain containing 1 Q9NVV9 THAP1_HUMAN
Protein Coding Chr 8 8p11.21 Swiss-Prot reviewed Entrez 55145
Mutations
111
CL 25 · Tissue 76
Samples
89
CL 24 · Tissue 64
Peptides
91
unique mutant peptides
Transcripts
2
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
Mutations1112576
Samples892464
Peptides911769

Function

THAP1 · THAP domain containing 1

The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

2 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
ENST00000254250 Q9NVV9 95 79
ENST00000345117 Q9NVV9-2 16 14

Gene Properties

Type
Protein Coding
Chromosome
8
Cytoband
8p11.21
Entrez ID
Aliases
DYT6

Recurrent Mutations

All 79 amino-acid changes on canonical ENST00000254250 · 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 THAP1 · 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 THAP1 – 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
Glioblastoma
2/98 2%
0/0 0%
Endometrial Carcinoma
1/42 2%
8/612 1%
Non-Small Cell Lung Carcinoma
1/304 0%
8/1390 1%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Osteosarcoma
1/45 2%
0/166 0%
Squamous Cell Lung Carcinoma
0/57 0%
4/810 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Colorectal Carcinoma
4/143 3%
8/3239 0%
Other Solid Cancers
0/94 0%
5/1515 0%
Neuroendocrine Tumour
0/154 0%
2/577 0%
Gastric Carcinoma
2/74 3%
3/1809 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Melanoma
1/210 0%
3/1899 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
4/2550 0%
Prostate Carcinoma
2/13 15%
2/2105 0%
Hepatocellular Carcinoma
0/46 0%
4/2210 0%
Breast Carcinoma
2/144 1%
3/3264 0%
Other Blood Cancers
4/61 7%
0/2725 0%
B-Cell Non-Hodgkins Lymphoma
2/88 2%
1/2534 0%
Bladder Carcinoma
0/58 0%
1/956 0%
Ovarian Carcinoma
0/109 0%
1/998 0%
Neuroblastoma
1/87 1%
0/1331 0%
Glioma
0/52 0%
1/2127 0%
B-Lymphoblastic Leukemia
0/55 0%
1/2640 0%

Mutation Distribution

Where THAP1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in THAP1 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 111 mutations in THAP1

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