GATA4

GATA binding protein 4 P43694 GATA4_HUMAN
Protein Coding Chr 8 8p23.1 Swiss-Prot reviewed Entrez 2626
Mutations
668
CL 117 · Tissue 541
Samples
241
CL 59 · Tissue 177
Peptides
197
unique mutant peptides
Transcripts
5
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
Mutations668117541
Samples24159177
Peptides19745159

Function

GATA4 · GATA binding protein 4

This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015].

Isoforms & Proteins

5 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
ENST00000532059 P43694-2 266 167
ENST00000335135 P43694 210 133
ENST00000528712 B3KUF4* 166 104
ENST00000622443 P43694 25 19
ENST00000647274 P43694 1 1

Gene Properties

Type
Protein Coding
Chromosome
8
Cytoband
8p23.1
Entrez ID
Aliases
ASD2TACHDTOFVSD1

Recurrent Mutations

All 167 amino-acid changes on canonical ENST00000532059 · 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 GATA4 · 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 GATA4 – 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
3/40 8%
0/0 0%
Acute Myeloid Leukemia
4/90 4%
0/0 0%
Endometrial Carcinoma
3/42 7%
8/612 1%
Non-Small Cell Lung Carcinoma
11/304 4%
17/1390 1%
Melanoma
7/210 3%
25/1899 1%
Mesothelioma
0/62 0%
3/165 2%
Wilms Tumour
0/5 0%
5/474 1%
Glioblastoma
1/98 1%
0/0 0%
Colorectal Carcinoma
6/143 4%
28/3239 1%
Gastric Carcinoma
0/74 0%
19/1809 1%
Esophageal Carcinoma
0/23 0%
7/769 1%
Other Solid Cancers
2/94 2%
12/1515 1%
Ewings Sarcoma
1/63 2%
1/262 0%
Head and Neck Carcinoma
1/85 1%
7/1574 0%
Squamous Cell Lung Carcinoma
0/57 0%
4/810 0%
Ovarian Carcinoma
4/109 4%
1/998 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
11/2550 0%
Neuroendocrine Tumour
0/154 0%
3/577 1%
Non-Cancerous
0/104 0%
3/830 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Other Sarcomas
0/69 0%
2/699 0%
Prostate Carcinoma
3/13 23%
2/2105 0%
Glioma
0/52 0%
5/2127 0%
B-Lymphoblastic Leukemia
5/55 9%
1/2640 0%
Cervical Carcinoma
1/35 3%
0/422 0%
Bladder Carcinoma
1/58 2%
1/956 0%
Pancreatic Carcinoma
0/89 0%
3/1611 0%
Hepatocellular Carcinoma
3/46 7%
1/2210 0%
Breast Carcinoma
0/144 0%
5/3264 0%

Mutation Distribution

Where GATA4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in GATA4 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 668 mutations in GATA4

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