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 | 51 | 47 | 0 |
| Samples | 48 | 44 | 0 |
| Peptides | 23 | 20 | 0 |
Function
NHERF1 · NHERF family PDZ scaffold protein 1
This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000262613 | O14745 | 51 | 23 |
Gene Properties
Recurrent Mutations
All 23 amino-acid changes on canonical ENST00000262613 · 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 NHERF1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NHERF1 – 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 | 3/40 8% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 0/810 0% |
| Endometrial Carcinoma | 2/42 5% | 0/612 0% |
| Ovarian Carcinoma | 3/109 3% | 0/998 0% |
| Cervical Carcinoma | 1/35 3% | 0/422 0% |
| Non-Cancerous | 2/104 2% | 0/830 0% |
| Bladder Carcinoma | 1/58 2% | 1/956 0% |
| Melanoma | 4/210 2% | 0/1899 0% |
| Colorectal Carcinoma | 4/143 3% | 2/3239 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Other Sarcomas | 1/69 1% | 0/699 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 0/1592 0% |
| Kidney Carcinoma | 2/85 2% | 0/1862 0% |
| Breast Carcinoma | 2/144 1% | 1/3264 0% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 0/1390 0% |
| Head and Neck Carcinoma | 1/85 1% | 0/1574 0% |
| Gastric Carcinoma | 1/74 1% | 0/1809 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 0/2550 0% |
| Other Blood Cancers | 1/61 2% | 0/2725 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 0/2534 0% |
Mutation Distribution
Where NHERF1 is mutated · all tissues, split by cell line vs tissue
How many mutations in NHERF1 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 51 mutations in NHERF1
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 |
|---|