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 | 7,077 | 749 | 6,218 |
| Samples | 718 | 135 | 567 |
| Peptides | 672 | 99 | 578 |
Function
CCDC88A · Coiled-coil and HOOK domain protein 88A
This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011].
Isoforms & Proteins
11 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 |
|---|---|---|---|
| ENST00000436346 | Q3V6T2 | 870 | 626 |
| ENST00000336838 | Q3V6T2-3 | 748 | 576 |
| ENST00000642200 | Q3V6T2 | 746 | 574 |
| ENST00000263630 | Q3V6T2-2 | 738 | 567 |
| ENST00000643413 | Q3V6T2-4 | 738 | 567 |
| ENST00000413716 | A0A2U3TZV9* | 704 | 543 |
| ENST00000646796 | Q3V6T2-5 | 704 | 543 |
| ENST00000647401 | A0A2R8Y7B1* | 643 | 489 |
| ENST00000645072 | A0A2R8Y4W8* | 585 | 451 |
| ENST00000645477 | A0A2R8YG73* | 585 | 451 |
| ENST00000471947 | A0A2R8Y5R4* | 16 | 15 |
Gene Properties
Recurrent Mutations
All 626 amino-acid changes on canonical ENST00000436346 · 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 CCDC88A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CCDC88A – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Endometrial Carcinoma | 9/42 21% | 36/612 6% |
| Bladder Carcinoma | 0/58 0% | 35/956 4% |
| Cervical Carcinoma | 4/35 11% | 11/422 3% |
| Melanoma | 10/210 5% | 53/1899 3% |
| Burkitts Lymphoma | 3/32 9% | 3/196 2% |
| Other Solid Cancers | 4/94 4% | 38/1515 3% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 16/810 2% |
| Colorectal Carcinoma | 17/143 12% | 65/3239 2% |
| Non-Small Cell Lung Carcinoma | 18/304 6% | 23/1390 2% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 56/2550 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Gastric Carcinoma | 4/74 5% | 33/1809 2% |
| Ovarian Carcinoma | 4/109 4% | 13/998 1% |
| Non-Cancerous | 2/104 2% | 12/830 1% |
| Rhabdomyosarcoma | 3/33 9% | 0/171 0% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Biliary Tract Carcinoma | 1/54 2% | 13/950 1% |
| Small Cell Lung Carcinoma | 1/9 11% | 9/752 1% |
| Ewings Sarcoma | 2/63 3% | 2/262 1% |
| Head and Neck Carcinoma | 3/85 4% | 17/1574 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 17/1592 1% |
| Hepatocellular Carcinoma | 1/46 2% | 24/2210 1% |
| Breast Carcinoma | 8/144 6% | 29/3264 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Esophageal Carcinoma | 0/23 0% | 7/769 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Neuroendocrine Tumour | 3/154 2% | 3/577 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
Mutation Distribution
Where CCDC88A is mutated · all tissues, split by cell line vs tissue
How many mutations in CCDC88A 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 7,077 mutations in CCDC88A
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 |
|---|