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 | 599 | 103 | 481 |
| Samples | 536 | 94 | 432 |
| Peptides | 383 | 62 | 323 |
Function
GUCY2D · Guanylate cyclase 2D, retinal
This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008].
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 |
|---|---|---|---|
| ENST00000254854 | Q02846 | 599 | 383 |
Gene Properties
Recurrent Mutations
All 383 amino-acid changes on canonical ENST00000254854 · 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 GUCY2D · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GUCY2D – 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 | 4/40 10% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Melanoma | 5/210 2% | 71/1899 4% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Colorectal Carcinoma | 16/143 11% | 80/3239 2% |
| Endometrial Carcinoma | 3/42 7% | 15/612 2% |
| Hodgkins Lymphoma | 0/16 0% | 3/122 2% |
| Other Solid Cancers | 3/94 3% | 29/1515 2% |
| Gastric Carcinoma | 3/74 4% | 34/1809 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 17/956 2% |
| Cervical Carcinoma | 1/35 3% | 6/422 1% |
| Non-Small Cell Lung Carcinoma | 13/304 4% | 10/1390 1% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 6/810 1% |
| Other Sarcomas | 2/69 3% | 6/699 1% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Esophageal Carcinoma | 0/23 0% | 8/769 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 15/1592 1% |
| Medulloblastoma | 0/0 0% | 4/450 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 19/2550 1% |
| Hepatocellular Carcinoma | 1/46 2% | 17/2210 1% |
| Glioma | 0/52 0% | 15/2127 1% |
| Neuroendocrine Tumour | 2/154 1% | 3/577 1% |
| Head and Neck Carcinoma | 0/85 0% | 11/1574 1% |
| Non-Cancerous | 1/104 1% | 5/830 1% |
| Ovarian Carcinoma | 1/109 1% | 5/998 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
Mutation Distribution
Where GUCY2D is mutated · all tissues, split by cell line vs tissue
How many mutations in GUCY2D 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 599 mutations in GUCY2D
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 |
|---|