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 | 259 | 30 | 229 |
| Samples | 87 | 10 | 77 |
| Peptides | 99 | 12 | 92 |
Function
PMF1-BGLAP · PMF1-BGLAP readthrough
This locus represents naturally occurring read-through transcription between the neighboring PMF1 (polyamine-modulated factor 1) and BGLAP (bone gamma-carboxyglutamate Gla protein) genes on chromosome 1. Alternative splicing results in multiple transcript variants encoding isoforms that share sequence identity with the upstream gene product, but they contain distinct C-termini due to frameshifts versus the downstream gene coding sequence. [provided by RefSeq, Dec 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000490491 | U3KQ54* | 78 | 54 |
| ENST00000368276 | Q6P1K2-5 | 74 | 55 |
| ENST00000320139 | Q6P1K2-3 | 60 | 42 |
| ENST00000567140 | A0A087WT04* | 47 | 37 |
Gene Properties
Recurrent Mutations
All 55 amino-acid changes on canonical ENST00000368276 · 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 PMF1-BGLAP · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PMF1-BGLAP – 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 |
|---|---|---|
| Unknown | 0/10 0% | 1/29 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 4/612 1% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Colorectal Carcinoma | 3/143 2% | 9/3239 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Melanoma | 0/210 0% | 7/1899 0% |
| Gastric Carcinoma | 1/74 1% | 5/1809 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Hepatocellular Carcinoma | 0/46 0% | 6/2210 0% |
| Neuroendocrine Tumour | 0/154 0% | 2/577 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 4/2550 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 3/1592 0% |
| Other Blood Cancers | 1/61 2% | 3/2725 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 2/1390 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Kidney Carcinoma | 0/85 0% | 2/1862 0% |
| Prostate Carcinoma | 0/13 0% | 2/2105 0% |
| Breast Carcinoma | 0/144 0% | 3/3264 0% |
| Other Solid Cancers | 0/94 0% | 1/1515 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
| Glioma | 0/52 0% | 1/2127 0% |
| B-Lymphoblastic Leukemia | 1/55 2% | 0/2640 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 1/2534 0% |
Mutation Distribution
Where PMF1-BGLAP is mutated · all tissues, split by cell line vs tissue
How many mutations in PMF1-BGLAP 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.
Mutations
All 259 mutations in PMF1-BGLAP
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 |
|---|