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 | 5,989 | 828 | 4,973 |
| Samples | 3,594 | 499 | 3,016 |
| Peptides | 3,379 | 481 | 2,980 |
Function
FAT4 · FAT atypical cadherin 4
The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014].
Isoforms & Proteins
3 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000335110 | Q6V0I7-2 | 3,379 | 2,249 |
| ENST00000394329 | A0A6Q8JR05* | 2,536 | 1,749 |
| ENST00000674496 | A0A7P0T1I0* | 74 | 72 |
Gene Properties
Recurrent Mutations
All 2249 amino-acid changes on canonical ENST00000335110 · 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 FAT4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FAT4 – 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 |
|---|---|---|
| T-Lymphoblastic Leukemia | 22/40 55% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 9/26 35% | 0/0 0% |
| Melanoma | 47/210 22% | 492/1899 26% |
| Colorectal Carcinoma | 49/143 34% | 533/3239 16% |
| Endometrial Carcinoma | 15/42 36% | 88/612 14% |
| Gastric Carcinoma | 14/74 19% | 251/1809 14% |
| Non-Small Cell Lung Carcinoma | 63/304 21% | 159/1390 11% |
| Esophageal Carcinoma | 3/23 13% | 93/769 12% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Other Solid Cancers | 9/94 10% | 177/1515 12% |
| Acute Monocytic Leukemia | 0/1 0% | 3/25 12% |
| Bladder Carcinoma | 12/58 21% | 93/956 10% |
| Squamous Cell Lung Carcinoma | 12/57 21% | 77/810 10% |
| Oral Cavity Carcinoma | 5/54 9% | 0/0 0% |
| Neuroendocrine Tumour | 33/154 21% | 34/577 6% |
| Acute Myeloid Leukemia | 8/90 9% | 0/0 0% |
| Glioblastoma | 8/98 8% | 0/0 0% |
| Small Cell Lung Carcinoma | 2/9 22% | 60/752 8% |
| Hodgkins Lymphoma | 4/16 25% | 7/122 6% |
| Unknown | 1/10 10% | 2/29 7% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 10/133 8% |
| Head and Neck Carcinoma | 13/85 15% | 90/1574 6% |
| Biliary Tract Carcinoma | 7/54 13% | 51/950 5% |
| Ovarian Carcinoma | 15/109 14% | 47/998 5% |
| Cervical Carcinoma | 6/35 17% | 18/422 4% |
| Non-Cancerous | 3/104 3% | 45/830 5% |
| Thymic Epithelial Tumor | 0/0 0% | 2/39 5% |
| Esophageal Squamous Cell Carcinoma | 11/51 22% | 115/2550 5% |
| Osteosarcoma | 6/45 13% | 4/166 2% |
| Plasma Cell Myeloma | 8/44 18% | 8/305 3% |
Mutation Distribution
Where FAT4 is mutated · all tissues, split by cell line vs tissue
How many mutations in FAT4 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
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 5,989 mutations in FAT4
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 |
|---|