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 | 107 | 17 | 90 |
| Samples | 50 | 8 | 42 |
| Peptides | 56 | 8 | 51 |
Function
FXYD7 · FXYD domain containing ion transport regulator 7
This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Dec 2000].
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.
Gene Properties
Recurrent Mutations
All 25 amino-acid changes on canonical ENST00000270310 · 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 FXYD7 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FXYD7 – 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 |
|---|---|---|
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Endometrial Carcinoma | 0/42 0% | 5/612 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 5/1390 0% |
| Melanoma | 0/210 0% | 5/1899 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 2/1592 0% |
| Kidney Carcinoma | 0/85 0% | 3/1862 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Colorectal Carcinoma | 0/143 0% | 4/3239 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| Gastric Carcinoma | 0/74 0% | 2/1809 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 2/2534 0% |
| Other Blood Cancers | 0/61 0% | 2/2725 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
| Other Solid Cancers | 1/94 1% | 0/1515 0% |
Mutation Distribution
Where FXYD7 is mutated · all tissues, split by cell line vs tissue
How many mutations in FXYD7 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 107 mutations in FXYD7
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 |
|---|