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 | 833 | 69 | 752 |
| Samples | 197 | 25 | 168 |
| Peptides | 177 | 16 | 159 |
Function
PHF6 · PHD finger protein 6
This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010].
Isoforms & Proteins
5 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 |
|---|---|---|---|
| ENST00000370803 | Q8IWS0 | 189 | 144 |
| ENST00000332070 | Q8IWS0 | 174 | 138 |
| ENST00000625464 | A0A0D9SGE8* | 174 | 138 |
| ENST00000370799 | Q5JRC6* | 157 | 124 |
| ENST00000370800 | Q8IWS0-2 | 139 | 109 |
Gene Properties
Recurrent Mutations
All 144 amino-acid changes on canonical ENST00000370803 · 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 PHF6 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PHF6 – 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 | 2/42 5% | 16/612 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| B-Lymphoblastic Leukemia | 0/55 0% | 25/2640 1% |
| Other Blood Cancers | 0/61 0% | 26/2725 1% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 5/810 1% |
| Melanoma | 3/210 1% | 11/1899 1% |
| Colorectal Carcinoma | 6/143 4% | 14/3239 0% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 8/1592 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 4/1390 0% |
| Biliary Tract Carcinoma | 2/54 4% | 2/950 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Other Solid Cancers | 1/94 1% | 5/1515 0% |
| Ovarian Carcinoma | 0/109 0% | 3/998 0% |
| Gastric Carcinoma | 0/74 0% | 5/1809 0% |
| Kidney Carcinoma | 0/85 0% | 5/1862 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Breast Carcinoma | 2/144 1% | 7/3264 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Hepatocellular Carcinoma | 0/46 0% | 5/2210 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 1/2534 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Neuroblastoma | 0/87 0% | 1/1331 0% |
Mutation Distribution
Where PHF6 is mutated · all tissues, split by cell line vs tissue
How many mutations in PHF6 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 833 mutations in PHF6
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 |
|---|