STAT1

Signal transducer and activator of transcription 1 P42224 STAT1_HUMAN
Protein Coding Chr 2 2q32.2 Swiss-Prot reviewed Entrez 6772
Mutations
1,218
CL 80 · Tissue 1,130
Samples
372
CL 39 · Tissue 328
Peptides
307
unique mutant peptides
Transcripts
6
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
Mutations1,218801,130
Samples37239328
Peptides30731276

Function

STAT1 · Signal transducer and activator of transcription 1

The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020].

Isoforms & Proteins

6 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
ENST00000361099 P42224 397 282
ENST00000409465 P42224 365 265
ENST00000392322 P42224-2 353 254
ENST00000540176 P42224 77 65
ENST00000392323 P42224-2 25 18
ENST00000673816 A0A669KB56* 1 1

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2q32.2
Entrez ID
Aliases
CANDF7IMD31AIMD31BIMD31CISGF-3STAT91

Recurrent Mutations

All 282 amino-acid changes on canonical ENST00000361099 · 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 STAT1 · 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 STAT1 – 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
5/42 12%
26/612 4%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Colorectal Carcinoma
10/143 7%
61/3239 2%
Bladder Carcinoma
2/58 3%
16/956 2%
Melanoma
2/210 1%
35/1899 2%
Non-Small Cell Lung Carcinoma
7/304 2%
16/1390 1%
Cervical Carcinoma
0/35 0%
6/422 1%
Gastric Carcinoma
0/74 0%
23/1809 1%
Esophageal Carcinoma
0/23 0%
9/769 1%
Hepatocellular Carcinoma
0/46 0%
21/2210 1%
Squamous Cell Lung Carcinoma
0/57 0%
8/810 1%
Other Sarcomas
0/69 0%
7/699 1%
Other Solid Cancers
0/94 0%
12/1515 1%
Head and Neck Carcinoma
2/85 2%
10/1574 1%
Glioma
0/52 0%
14/2127 1%
Kidney Carcinoma
0/85 0%
11/1862 1%
Small Cell Lung Carcinoma
2/9 22%
2/752 0%
Medulloblastoma
0/0 0%
2/450 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Non-Cancerous
0/104 0%
4/830 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
11/2550 0%
Biliary Tract Carcinoma
0/54 0%
4/950 0%
Meningioma
0/3 0%
1/252 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
10/2534 0%
Ovarian Carcinoma
1/109 1%
3/998 0%
Breast Carcinoma
4/144 3%
6/3264 0%
Neuroendocrine Tumour
1/154 1%
1/577 0%
Prostate Carcinoma
0/13 0%
5/2105 0%
Neuroblastoma
2/87 2%
1/1331 0%
Pancreatic Carcinoma
0/89 0%
3/1611 0%

Mutation Distribution

Where STAT1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in STAT1 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 1,218 mutations in STAT1

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