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 | 8,189 | 1,190 | 6,924 |
| Samples | 2,332 | 486 | 1,823 |
| Peptides | 2,012 | 349 | 1,728 |
Function
RELN · Reelin
This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008].
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 1984 amino-acid changes on canonical ENST00000428762 · 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 RELN · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in RELN – 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 | 14/40 35% | 0/0 0% |
| Melanoma | 48/210 23% | 300/1899 16% |
| Oral Cavity Carcinoma | 8/54 15% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 68/304 22% | 147/1390 11% |
| Squamous Cell Lung Carcinoma | 17/57 30% | 89/810 11% |
| T-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| Endometrial Carcinoma | 21/42 50% | 54/612 9% |
| Other Solid Cancers | 12/94 13% | 145/1515 10% |
| Glioblastoma | 9/98 9% | 0/0 0% |
| Acute Myeloid Leukemia | 8/90 9% | 0/0 0% |
| Neuroendocrine Tumour | 32/154 21% | 23/577 4% |
| Gastric Carcinoma | 19/74 26% | 117/1809 6% |
| Bladder Carcinoma | 8/58 14% | 58/956 6% |
| Colorectal Carcinoma | 40/143 28% | 175/3239 5% |
| Head and Neck Carcinoma | 9/85 11% | 75/1574 5% |
| Esophageal Squamous Cell Carcinoma | 18/51 35% | 112/2550 4% |
| Small Cell Lung Carcinoma | 2/9 22% | 36/752 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Cervical Carcinoma | 3/35 9% | 15/422 4% |
| Rhabdomyosarcoma | 5/33 15% | 3/171 2% |
| Ovarian Carcinoma | 16/109 15% | 26/998 3% |
| Other Sarcomas | 10/69 14% | 19/699 3% |
| Adrenocortical Carcinoma | 2/3 67% | 2/112 2% |
| Esophageal Carcinoma | 0/23 0% | 27/769 4% |
| Ewings Sarcoma | 7/63 11% | 3/262 1% |
| Hodgkins Lymphoma | 2/16 12% | 2/122 2% |
| Non-Cancerous | 2/104 2% | 25/830 3% |
| Glioma | 6/52 12% | 56/2127 3% |
| Hepatocellular Carcinoma | 4/46 9% | 59/2210 3% |
| Biliary Tract Carcinoma | 3/54 6% | 25/950 3% |
Mutation Distribution
Where RELN is mutated · all tissues, split by cell line vs tissue
How many mutations in RELN 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 8,189 mutations in RELN
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 |
|---|