Schizophrenia 19
diseaseOn this page
Also known as SCZD19
Summary
Schizophrenia 19 (MONDO:0033312) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 5
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | schizophrenia 19 |
| Mondo ID | MONDO:0033312 |
| OMIM | 617629 |
| DOID | DOID:0080281 |
| UMLS | C4539944 |
| MedGen | 1613937 |
| Is cancer (heuristic) | no |
Also known as: schizophrenia 19 · SCZD19
Data availability: 5 ClinVar variants.
Disease family
Classification path: disease › human disease › disease by developmental or physiological process › psychiatric disorder › cognitive disorder › psychotic disorder › schizophrenia › schizophrenia 19
Related subtypes (17): paranoid schizophrenia, treatment-refractory schizophrenia, schizophrenia 1, schizophrenia 3, schizophrenia 5, schizophrenia 7, schizophrenia 8, schizophrenia 2, schizophrenia 10, schizophrenia 11, schizophrenia 12, schizophrenia 15, schizophrenia 16, chromosome 2p16.3 deletion syndrome, early-onset schizophrenia, schizophrenia 17, childhood-onset schizophrenia
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
5 retrieved; paginated sample, class counts are floors:
2 uncertain significance, 2 pathogenic, 1 likely benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 433195 | NM_006047.6(RBM12):c.2377G>T (p.Gly793Ter) | CPNE1 | Pathogenic | no assertion criteria provided |
| 433196 | NM_006047.6(RBM12):c.2532del (p.Gly845fs) | CPNE1 | Pathogenic | no assertion criteria provided |
| 3892260 | NM_006047.6(RBM12):c.31C>A (p.Pro11Thr) | CPNE1 | Uncertain significance | criteria provided, single submitter |
| 3892261 | NM_006047.6(RBM12):c.1998_2012del (p.Gly669_Pro673del) | CPNE1 | Uncertain significance | criteria provided, single submitter |
| 3050136 | NM_006047.6(RBM12):c.2487CGGCCC[2] (p.826GP[5]) | CPNE1 | Likely benign | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| CPNE1 | HGNC:2314 | ENSG00000214078 | Q99829 | Copine-1 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| CPNE1 | Copine-1 | Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes. |
Protein-family classification
Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Other/Unknown | 1 | 1.8× | 0.558 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| CPNE1 | Other/Unknown | no | C2_dom, VWF_A, Copine_C |
Expression context
Cohort genes with no expression data: 0.
1 cohort gene are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 1 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| endocervix | 1 |
| granulocyte | 1 |
| right lobe of thyroid gland | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| CPNE1 | 276 | ubiquitous | marker | granulocyte, endocervix, right lobe of thyroid gland |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| CPNE1 | 838 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| CPNE1 | Q99829 | 92.23 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Glycerophospholipid biosynthesis | 1 | 335.9× | 0.006 | CPNE1 |
| Neutrophil degranulation | 1 | 23.1× | 0.043 | CPNE1 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| glycerophospholipid biosynthetic process | 1 | 1872.4× | 0.004 | CPNE1 |
| negative regulation of DNA binding | 1 | 1123.5× | 0.004 | CPNE1 |
| positive regulation of tumor necrosis factor-mediated signaling pathway | 1 | 1053.2× | 0.004 | CPNE1 |
| neuron projection extension | 1 | 526.6× | 0.004 | CPNE1 |
| negative regulation of non-canonical NF-kappaB signal transduction | 1 | 510.7× | 0.004 | CPNE1 |
| regulation of canonical NF-kappaB signal transduction | 1 | 481.5× | 0.004 | CPNE1 |
| cellular response to calcium ion | 1 | 200.6× | 0.008 | CPNE1 |
| positive regulation of neuron differentiation | 1 | 198.3× | 0.008 | CPNE1 |
| vesicle-mediated transport | 1 | 96.3× | 0.014 | CPNE1 |
| lipid metabolic process | 1 | 91.6× | 0.014 | CPNE1 |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 | 78.4× | 0.015 | CPNE1 |
| negative regulation of gene expression | 1 | 69.1× | 0.016 | CPNE1 |
| proteolysis | 1 | 34.2× | 0.029 | CPNE1 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| CPNE1 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Pharmacogenomics
Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | CPNE1 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| CPNE1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: CPNE1