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 | 875 | 120 | 751 |
| Samples | 419 | 78 | 338 |
| Peptides | 328 | 55 | 283 |
Function
POF1B · POF1B actin binding protein
Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called 'POF1' and 'POF2' have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010].
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 323 amino-acid changes on canonical ENST00000262753 · 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 POF1B · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in POF1B – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Melanoma | 13/210 6% | 98/1899 5% |
| Endometrial Carcinoma | 4/42 10% | 26/612 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 12/304 4% | 30/1390 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Cervical Carcinoma | 2/35 6% | 5/422 1% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 8/810 1% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Ovarian Carcinoma | 2/109 2% | 14/998 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 10/752 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Other Sarcomas | 2/69 3% | 5/699 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Other Solid Cancers | 5/94 5% | 9/1515 1% |
| Neuroendocrine Tumour | 4/154 3% | 2/577 0% |
| Glioma | 1/52 2% | 16/2127 1% |
| Colorectal Carcinoma | 3/143 2% | 18/3239 1% |
| Gastric Carcinoma | 1/74 1% | 10/1809 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Hepatocellular Carcinoma | 0/46 0% | 11/2210 0% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Breast Carcinoma | 2/144 1% | 14/3264 0% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 7/1592 0% |
| Other Blood Cancers | 2/61 3% | 9/2725 0% |
| B-Lymphoblastic Leukemia | 3/55 5% | 7/2640 0% |
| Head and Neck Carcinoma | 1/85 1% | 5/1574 0% |
Mutation Distribution
Where POF1B is mutated · all tissues, split by cell line vs tissue
How many mutations in POF1B 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 875 mutations in POF1B
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 |
|---|