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 | 41 | 40 | 0 |
| Samples | 41 | 40 | 0 |
| Peptides | 38 | 37 | 0 |
Function
NHERF4 · NHERF family PDZ scaffold protein 4
Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 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 37 amino-acid changes on canonical ENST00000355547 · 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 NHERF4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NHERF4 – 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 | 2/40 5% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 0/612 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Neuroendocrine Tumour | 3/154 2% | 0/577 0% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 0/810 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Cervical Carcinoma | 1/35 3% | 0/422 0% |
| Colorectal Carcinoma | 6/143 4% | 1/3239 0% |
| Melanoma | 3/210 1% | 0/1899 0% |
| Esophageal Carcinoma | 1/23 4% | 0/769 0% |
| Other Solid Cancers | 2/94 2% | 0/1515 0% |
| Pancreatic Carcinoma | 2/89 2% | 0/1611 0% |
| Non-Cancerous | 1/104 1% | 0/830 0% |
| Ovarian Carcinoma | 1/109 1% | 0/998 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 0/1592 0% |
| Head and Neck Carcinoma | 1/85 1% | 0/1574 0% |
| Breast Carcinoma | 2/144 1% | 0/3264 0% |
| Kidney Carcinoma | 1/85 1% | 0/1862 0% |
| B-Lymphoblastic Leukemia | 1/55 2% | 0/2640 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 0/2534 0% |
Mutation Distribution
Where NHERF4 is mutated · all tissues, split by cell line vs tissue
How many mutations in NHERF4 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 41 mutations in NHERF4
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 |
|---|