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 | 399 | 74 | 320 |
| Samples | 382 | 69 | 309 |
| Peptides | 232 | 46 | 192 |
Function
USH1G · USH1 protein network component sans
This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013].
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 |
|---|---|---|---|
| ENST00000614341 | Q495M9 | 399 | 232 |
Gene Properties
Recurrent Mutations
All 231 amino-acid changes on canonical ENST00000614341 · 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 USH1G · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in USH1G – 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 | 7/40 18% | 0/0 0% |
| Hodgkins Lymphoma | 4/16 25% | 0/122 0% |
| Endometrial Carcinoma | 6/42 14% | 12/612 2% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Unknown | 1/10 10% | 0/29 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 63/2550 2% |
| Melanoma | 4/210 2% | 44/1899 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Colorectal Carcinoma | 9/143 6% | 54/3239 2% |
| Adrenocortical Carcinoma | 2/3 67% | 0/112 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 14/1390 1% |
| Other Solid Cancers | 1/94 1% | 20/1515 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Gastric Carcinoma | 1/74 1% | 17/1809 1% |
| Other Sarcomas | 3/69 4% | 3/699 0% |
| Head and Neck Carcinoma | 0/85 0% | 11/1574 1% |
| Esophageal Carcinoma | 2/23 9% | 3/769 0% |
| Glioma | 0/52 0% | 12/2127 1% |
| Hepatocellular Carcinoma | 2/46 4% | 9/2210 0% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Cervical Carcinoma | 1/35 3% | 1/422 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Neuroblastoma | 4/87 5% | 1/1331 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 5/1592 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Neuroendocrine Tumour | 0/154 0% | 2/577 0% |
Mutation Distribution
Where USH1G is mutated · all tissues, split by cell line vs tissue
How many mutations in USH1G 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 47 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 399 mutations in USH1G
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 |
|---|