Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
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.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 672 | 95 | 573 |
| Samples | 352 | 65 | 285 |
| Peptides | 287 | 43 | 251 |
Function
GTF2A1L · General transcription factor IIA subunit 1 like
The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Mar 2014].
Isoforms & Proteins
2 transcripts · UniProt mapping is sequence-verified (AA-safe)
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.
Gene Properties
Recurrent Mutations
All 274 amino-acid changes on canonical ENST00000403751 · needle height = samples · drag the mini-map to zoom
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 GTF2A1L · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in 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 type | Cell lines | Tissue samples |
|---|---|---|
| Acute Myeloid Leukemia | 6/90 7% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 28/810 3% |
| Melanoma | 10/210 5% | 60/1899 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Unknown | 1/10 10% | 0/29 0% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 15/612 2% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 20/1390 1% |
| Other Solid Cancers | 1/94 1% | 22/1515 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 10/752 1% |
| Colorectal Carcinoma | 2/143 1% | 37/3239 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Rhabdomyosarcoma | 1/33 3% | 1/171 1% |
| Head and Neck Carcinoma | 3/85 4% | 11/1574 1% |
| Gastric Carcinoma | 3/74 4% | 12/1809 1% |
| Meningioma | 0/3 0% | 2/252 1% |
| Neuroendocrine Tumour | 3/154 2% | 2/577 0% |
| Biliary Tract Carcinoma | 2/54 4% | 4/950 0% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 9/2550 0% |
| Hepatocellular Carcinoma | 1/46 2% | 9/2210 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Cervical Carcinoma | 1/35 3% | 1/422 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 6/1592 0% |
| Breast Carcinoma | 4/144 3% | 7/3264 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 3/2534 0% |
| Ovarian Carcinoma | 0/109 0% | 3/998 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
Mutation Distribution
Where GTF2A1L is mutated · all tissues, split by cell line vs tissue
How many mutations in 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 53 healthy tissues
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 672 mutations in GTF2A1L
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.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|