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 | 6,708 | 1,057 | 5,601 |
| Samples | 1,831 | 397 | 1,417 |
| Peptides | 1,559 | 341 | 1,281 |
Function
CDH23 · Cadherin related 23
This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013].
Isoforms & Proteins
8 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000224721 | Q9H251 | 2,264 | 1,464 |
| ENST00000398809 | A0A0A0MS94* | 821 | 578 |
| ENST00000616684 | A0A087WYR8* | 821 | 578 |
| ENST00000442677 | B1AVV0* | 680 | 491 |
| ENST00000398788 | Q9H251-7 | 622 | 421 |
| ENST00000299366 | A0ACM8PXF1* | 611 | 439 |
| ENST00000619887 | Q9H251-9 | 598 | 404 |
| ENST00000461841 | Q9H251-5 | 291 | 206 |
Gene Properties
Recurrent Mutations
All 1464 amino-acid changes on canonical ENST00000224721 · 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 CDH23 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CDH23 – 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 | 20/40 50% | 0/0 0% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| Endometrial Carcinoma | 16/42 38% | 71/612 12% |
| Non-Small Cell Lung Carcinoma | 73/304 24% | 98/1390 7% |
| Melanoma | 35/210 17% | 175/1899 9% |
| Glioblastoma | 9/98 9% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Colorectal Carcinoma | 39/143 27% | 211/3239 7% |
| Gastric Carcinoma | 12/74 16% | 118/1809 7% |
| Acute Myeloid Leukemia | 6/90 7% | 0/0 0% |
| Other Solid Cancers | 10/94 11% | 90/1515 6% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 8/57 14% | 40/810 5% |
| Chordoma | 0/7 0% | 1/13 8% |
| Esophageal Squamous Cell Carcinoma | 9/51 18% | 112/2550 4% |
| Cervical Carcinoma | 3/35 9% | 18/422 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Hodgkins Lymphoma | 1/16 6% | 5/122 4% |
| Bladder Carcinoma | 8/58 14% | 30/956 3% |
| Non-Cancerous | 4/104 4% | 29/830 3% |
| Ovarian Carcinoma | 10/109 9% | 24/998 2% |
| Esophageal Carcinoma | 2/23 9% | 21/769 3% |
| Plasma Cell Myeloma | 9/44 20% | 1/305 0% |
| Small Cell Lung Carcinoma | 3/9 33% | 18/752 2% |
| Germ Cell Tumour | 4/25 16% | 1/169 1% |
| Unknown | 0/10 0% | 1/29 3% |
| Rhabdomyosarcoma | 2/33 6% | 3/171 2% |
| Biliary Tract Carcinoma | 3/54 6% | 21/950 2% |
| Head and Neck Carcinoma | 8/85 9% | 30/1574 2% |
| Other Sarcomas | 6/69 9% | 10/699 1% |
Mutation Distribution
Where CDH23 is mutated · all tissues, split by cell line vs tissue
How many mutations in CDH23 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 6,708 mutations in CDH23
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 |
|---|