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 | 2,050 | 183 | 1,837 |
| Samples | 471 | 78 | 388 |
| Peptides | 339 | 60 | 286 |
Function
HNF1A · HNF1 homeobox A
The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015].
Isoforms & Proteins
6 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 288 amino-acid changes on canonical ENST00000257555 · 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 HNF1A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HNF1A – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 36/133 27% |
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Rhabdomyosarcoma | 0/33 0% | 7/171 4% |
| Endometrial Carcinoma | 2/42 5% | 19/612 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 15/810 2% |
| Neuroendocrine Tumour | 9/154 6% | 7/577 1% |
| Hepatocellular Carcinoma | 3/46 7% | 46/2210 2% |
| Bladder Carcinoma | 2/58 3% | 20/956 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Melanoma | 1/210 0% | 39/1899 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Other Solid Cancers | 3/94 3% | 19/1515 1% |
| Colorectal Carcinoma | 12/143 8% | 30/3239 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 14/1390 1% |
| Osteosarcoma | 0/45 0% | 2/166 1% |
| Ovarian Carcinoma | 6/109 6% | 4/998 0% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 19/2550 1% |
| Other Sarcomas | 1/69 1% | 5/699 1% |
| Glioma | 2/52 4% | 15/2127 1% |
| Prostate Carcinoma | 0/13 0% | 16/2105 1% |
| Gastric Carcinoma | 1/74 1% | 12/1809 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 10/1592 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Biliary Tract Carcinoma | 1/54 2% | 5/950 1% |
| Breast Carcinoma | 6/144 4% | 13/3264 0% |
Mutation Distribution
Where HNF1A is mutated · all tissues, split by cell line vs tissue
How many mutations in HNF1A 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 49 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 2,050 mutations in HNF1A
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 |
|---|