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 | 1,701 | 245 | 1,420 |
| Samples | 491 | 103 | 379 |
| Peptides | 524 | 89 | 433 |
Function
DIAPH1 · Diaphanous related formin 1
This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
6 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 472 amino-acid changes on canonical ENST00000389054 · 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 DIAPH1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DIAPH1 – 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 |
|---|---|---|
| Glioblastoma | 7/98 7% | 0/0 0% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 23/612 4% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Melanoma | 14/210 7% | 53/1899 3% |
| Burkitts Lymphoma | 2/32 6% | 4/196 2% |
| Unknown | 1/10 10% | 0/29 0% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Germ Cell Tumour | 3/25 12% | 1/169 1% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Colorectal Carcinoma | 15/143 10% | 47/3239 1% |
| Gastric Carcinoma | 3/74 4% | 31/1809 2% |
| Cervical Carcinoma | 1/35 3% | 7/422 2% |
| Neuroendocrine Tumour | 7/154 5% | 4/577 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 24/1592 2% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 11/810 1% |
| Other Solid Cancers | 1/94 1% | 19/1515 1% |
| Biliary Tract Carcinoma | 1/54 2% | 11/950 1% |
| Bladder Carcinoma | 2/58 3% | 9/956 1% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 13/1390 1% |
| Ovarian Carcinoma | 4/109 4% | 6/998 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Hepatocellular Carcinoma | 0/46 0% | 17/2210 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Head and Neck Carcinoma | 2/85 2% | 9/1574 1% |
| Other Sarcomas | 3/69 4% | 2/699 0% |
| Breast Carcinoma | 4/144 3% | 17/3264 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 15/2550 1% |
| Kidney Carcinoma | 3/85 4% | 8/1862 0% |
Mutation Distribution
Where DIAPH1 is mutated · all tissues, split by cell line vs tissue
How many mutations in DIAPH1 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 1,701 mutations in DIAPH1
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 |
|---|