STON1-GTF2A1L

STON1-GTF2A1L readthrough Q9Y6Q2-2 STON1_HUMAN
Protein Coding Chr 2 2p16.3 Swiss-Prot reviewed Entrez 286749
Mutations
3,057
CL 262 · Tissue 2,765
Samples
699
CL 62 · Tissue 628
Peptides
606
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
Mutations3,0572622,765
Samples69962628
Peptides60659549

Function

STON1-GTF2A1L · STON1-GTF2A1L readthrough

STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants. The significance of these read-through variants and the function of the resulting protein products have not yet been determined. [provided by RefSeq, Oct 2010].

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
ENST00000405008 Q53S48* 774 572
ENST00000394754 Q53S48* 772 570
ENST00000402114 Q9Y6Q2-2 770 558
ENST00000394751 Q9Y6Q2-3 741 544

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2p16.3
Entrez ID
Aliases
SALF

Recurrent Mutations

All 558 amino-acid changes on canonical ENST00000402114 · 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 STON1-GTF2A1L · 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 STON1-GTF2A1L – 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
Melanoma
5/210 2%
133/1899 7%
Squamous Cell Lung Carcinoma
4/57 7%
46/810 6%
T-Lymphoblastic Leukemia
2/40 5%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Acute Myeloid Leukemia
4/90 4%
0/0 0%
Endometrial Carcinoma
0/42 0%
25/612 4%
Non-Small Cell Lung Carcinoma
14/304 5%
47/1390 3%
Other Solid Cancers
2/94 2%
42/1515 3%
Colorectal Carcinoma
5/143 4%
80/3239 2%
Bladder Carcinoma
0/58 0%
21/956 2%
Small Cell Lung Carcinoma
0/9 0%
15/752 2%
Gastric Carcinoma
1/74 1%
32/1809 2%
Hodgkins Lymphoma
1/16 6%
1/122 1%
Head and Neck Carcinoma
1/85 1%
20/1574 1%
Neuroendocrine Tumour
5/154 3%
4/577 1%
Esophageal Carcinoma
0/23 0%
9/769 1%
Esophageal Squamous Cell Carcinoma
3/51 6%
24/2550 1%
Germ Cell Tumour
0/25 0%
2/169 1%
Glioblastoma
1/98 1%
0/0 0%
Mesothelioma
1/62 2%
1/165 1%
Other Sarcomas
0/69 0%
6/699 1%
Meningioma
0/3 0%
2/252 1%
Biliary Tract Carcinoma
0/54 0%
7/950 1%
Glioma
1/52 2%
14/2127 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Breast Carcinoma
4/144 3%
18/3264 1%
Pancreatic Carcinoma
0/89 0%
11/1611 1%
Hepatocellular Carcinoma
1/46 2%
13/2210 1%
Thyroid Gland Carcinoma
0/45 0%
9/1592 1%
Rhabdomyosarcoma
0/33 0%
1/171 1%

Mutation Distribution

Where STON1-GTF2A1L is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in STON1-GTF2A1L 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 41 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 3,057 mutations in STON1-GTF2A1L

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