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 | 2,590 | 371 | 2,182 |
| Samples | 673 | 130 | 528 |
| Peptides | 481 | 85 | 401 |
Function
FOLH1 · Folate hydrolase 1
This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants encoding several different isoforms. [provided by RefSeq, Jul 2010].
Isoforms & Proteins
4 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 451 amino-acid changes on canonical ENST00000256999 · 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 FOLH1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FOLH1 – 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 |
|---|---|---|
| Endometrial Carcinoma | 12/42 29% | 25/612 4% |
| Unknown | 0/10 0% | 2/29 7% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Melanoma | 9/210 4% | 81/1899 4% |
| Non-Small Cell Lung Carcinoma | 25/304 8% | 44/1390 3% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 6/57 11% | 28/810 3% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Cervical Carcinoma | 3/35 9% | 10/422 2% |
| Other Solid Cancers | 4/94 4% | 36/1515 2% |
| Colorectal Carcinoma | 18/143 13% | 66/3239 2% |
| Gastric Carcinoma | 0/74 0% | 43/1809 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Rhabdomyosarcoma | 0/33 0% | 4/171 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 13/752 2% |
| Bladder Carcinoma | 1/58 2% | 15/956 2% |
| Neuroendocrine Tumour | 9/154 6% | 2/577 0% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Burkitts Lymphoma | 3/32 9% | 0/196 0% |
| Esophageal Carcinoma | 0/23 0% | 10/769 1% |
| Pancreatic Carcinoma | 3/89 3% | 13/1611 1% |
| Breast Carcinoma | 2/144 1% | 30/3264 1% |
| Head and Neck Carcinoma | 1/85 1% | 14/1574 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 12/1592 1% |
| Ovarian Carcinoma | 4/109 4% | 5/998 0% |
| Biliary Tract Carcinoma | 0/54 0% | 8/950 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 14/2550 1% |
| Glioma | 3/52 6% | 12/2127 1% |
Mutation Distribution
Where FOLH1 is mutated · all tissues, split by cell line vs tissue
How many mutations in FOLH1 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 52 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 2,590 mutations in FOLH1
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 |
|---|