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 | 1,222 | 180 | 1,024 |
| Samples | 446 | 96 | 345 |
| Peptides | 346 | 65 | 299 |
Function
KIRREL3 · Kirre like nephrin family adhesion molecule 3
The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. The protein encoded by this gene is a synaptic cell adhesion molecule with multiple extracellular immunoglobulin-like domains and a cytoplasmic PDZ domain-binding motif. Mutations in this gene are associated with several neurological and cognitive disorders. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017].
Isoforms & Proteins
3 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 323 amino-acid changes on canonical ENST00000525144 · 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 KIRREL3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in KIRREL3 – 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 | 5/40 12% | 0/0 0% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 19/612 3% |
| Non-Small Cell Lung Carcinoma | 19/304 6% | 22/1390 2% |
| Colorectal Carcinoma | 8/143 6% | 65/3239 2% |
| Mesothelioma | 2/62 3% | 2/165 1% |
| Melanoma | 4/210 2% | 33/1899 2% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 13/810 2% |
| Gastric Carcinoma | 1/74 1% | 31/1809 2% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Neuroendocrine Tumour | 7/154 5% | 2/577 0% |
| Non-Cancerous | 2/104 2% | 9/830 1% |
| Esophageal Carcinoma | 2/23 9% | 7/769 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Head and Neck Carcinoma | 0/85 0% | 17/1574 1% |
| Osteosarcoma | 1/45 2% | 1/166 1% |
| Burkitts Lymphoma | 0/32 0% | 2/196 1% |
| Other Solid Cancers | 1/94 1% | 13/1515 1% |
| B-Cell Non-Hodgkins Lymphoma | 9/88 10% | 12/2534 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Ovarian Carcinoma | 1/109 1% | 7/998 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Other Sarcomas | 2/69 3% | 3/699 0% |
| Biliary Tract Carcinoma | 0/54 0% | 6/950 1% |
| Hepatocellular Carcinoma | 3/46 7% | 10/2210 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 8/1592 0% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
Mutation Distribution
Where KIRREL3 is mutated · all tissues, split by cell line vs tissue
How many mutations in KIRREL3 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 1,222 mutations in KIRREL3
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 |
|---|