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 | 5,250 | 833 | 4,348 |
| Samples | 2,327 | 455 | 1,839 |
| Peptides | 2,072 | 351 | 1,763 |
Function
PKHD1 · PKHD1 ciliary IPT domain containing fibrocystin/polyductin
The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008].
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 2064 amino-acid changes on canonical ENST00000371117 · 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 PKHD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PKHD1 – 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 | 9/40 22% | 0/0 0% |
| Glioblastoma | 18/98 18% | 0/0 0% |
| Acute Myeloid Leukemia | 15/90 17% | 0/0 0% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 10/57 18% | 107/810 13% |
| Melanoma | 39/210 19% | 235/1899 12% |
| Non-Small Cell Lung Carcinoma | 77/304 25% | 128/1390 9% |
| Endometrial Carcinoma | 8/42 19% | 68/612 11% |
| Other Solid Cancers | 13/94 14% | 129/1515 9% |
| Hodgkins Lymphoma | 8/16 50% | 3/122 2% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Colorectal Carcinoma | 39/143 27% | 215/3239 7% |
| Small Cell Lung Carcinoma | 1/9 11% | 55/752 7% |
| Gastric Carcinoma | 9/74 12% | 114/1809 6% |
| Bladder Carcinoma | 2/58 3% | 54/956 6% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 7/133 5% |
| Neuroendocrine Tumour | 20/154 13% | 16/577 3% |
| Osteosarcoma | 7/45 16% | 3/166 2% |
| Mesothelioma | 8/62 13% | 2/165 1% |
| Cervical Carcinoma | 3/35 9% | 17/422 4% |
| Adrenocortical Carcinoma | 2/3 67% | 3/112 3% |
| Ovarian Carcinoma | 17/109 16% | 31/998 3% |
| Esophageal Squamous Cell Carcinoma | 11/51 22% | 101/2550 4% |
| Esophageal Carcinoma | 1/23 4% | 30/769 4% |
| Head and Neck Carcinoma | 9/85 11% | 52/1574 3% |
| Biliary Tract Carcinoma | 2/54 4% | 34/950 4% |
| Glioma | 7/52 13% | 69/2127 3% |
| Other Sarcomas | 4/69 6% | 22/699 3% |
| Chondrosarcoma | 2/14 14% | 1/75 1% |
| Hepatocellular Carcinoma | 6/46 13% | 66/2210 3% |
Mutation Distribution
Where PKHD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in PKHD1 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 47 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 5,250 mutations in PKHD1
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 |
|---|