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 | 1,491 | 221 | 1,235 |
| Samples | 535 | 114 | 408 |
| Peptides | 452 | 82 | 379 |
Function
KIRREL1 · Kirre like nephrin family adhesion molecule 1
NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008].
Isoforms & Proteins
4 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 |
|---|---|---|---|
| ENST00000359209 | Q96J84 | 594 | 404 |
| ENST00000360089 | Q5W0F9* | 437 | 325 |
| ENST00000368173 | A0A0A0MRK0* | 432 | 325 |
| ENST00000368172 | Q5W0G0* | 28 | 22 |
Gene Properties
Recurrent Mutations
All 404 amino-acid changes on canonical ENST00000359209 · 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 KIRREL1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in KIRREL1 – 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 | 9/40 22% | 0/0 0% |
| Endometrial Carcinoma | 9/42 21% | 24/612 4% |
| Gastric Carcinoma | 6/74 8% | 48/1809 3% |
| Colorectal Carcinoma | 18/143 13% | 62/3239 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Non-Small Cell Lung Carcinoma | 13/304 4% | 24/1390 2% |
| Hodgkins Lymphoma | 0/16 0% | 3/122 2% |
| Osteosarcoma | 4/45 9% | 0/166 0% |
| Esophageal Carcinoma | 1/23 4% | 13/769 2% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 13/810 2% |
| Plasma Cell Myeloma | 4/44 9% | 2/305 1% |
| Neuroendocrine Tumour | 3/154 2% | 8/577 1% |
| Other Solid Cancers | 2/94 2% | 22/1515 1% |
| Melanoma | 7/210 3% | 24/1899 1% |
| Cervical Carcinoma | 2/35 6% | 4/422 1% |
| Bladder Carcinoma | 0/58 0% | 12/956 1% |
| Ovarian Carcinoma | 6/109 6% | 7/998 1% |
| Hepatocellular Carcinoma | 1/46 2% | 22/2210 1% |
| Prostate Carcinoma | 1/13 8% | 19/2105 1% |
| Ewings Sarcoma | 3/63 5% | 0/262 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 20/2550 1% |
| Biliary Tract Carcinoma | 1/54 2% | 7/950 1% |
| Breast Carcinoma | 4/144 3% | 22/3264 1% |
| Glioma | 1/52 2% | 15/2127 1% |
| Medulloblastoma | 0/0 0% | 3/450 1% |
| Non-Cancerous | 2/104 2% | 3/830 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Head and Neck Carcinoma | 0/85 0% | 7/1574 0% |
Mutation Distribution
Where KIRREL1 is mutated · all tissues, split by cell line vs tissue
How many mutations in KIRREL1 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.
Mutations
All 1,491 mutations in KIRREL1
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 |
|---|