Advance sleep phase syndrome, familial, 4
disease diseaseOn this page
Also known as FASPS4
Summary
Advance sleep phase syndrome, familial, 4 (MONDO:0031044) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 3
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | advance sleep phase syndrome, familial, 4 |
| Mondo ID | MONDO:0031044 |
| OMIM | 620015 |
| DOID | DOID:0061006 |
| UMLS | C5774204 |
| MedGen | 1823977 |
| GARD | 0025682 |
| Is cancer (heuristic) | no |
Also known as: advance sleep phase syndrome, familial, 4 · FASPS4
Data availability: 3 ClinVar variants.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › advanced sleep phase syndrome › advance sleep phase syndrome, familial, 4
Related subtypes (3): advanced sleep phase syndrome 1, advanced sleep phase syndrome 2, advanced sleep phase syndrome 3
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
3 retrieved; paginated sample, class counts are floors:
1 pathogenic, 1 conflicting classifications of pathogenicity, 1 uncertain significance
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1702937 | NM_003920.5(TIMELESS):c.3241C>T (p.Arg1081Ter) | TIMELESS | Pathogenic | no assertion criteria provided |
| 2672272 | NM_003920.5(TIMELESS):c.2515G>A (p.Asp839Asn) | TIMELESS | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 3065705 | NM_003920.5(TIMELESS):c.909+5G>A | TIMELESS | Uncertain significance | 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 |
|---|---|---|---|---|---|
| TIMELESS | HGNC:11813 | ENSG00000111602 | Q9UNS1 | Protein timeless homolog | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| TIMELESS | Protein timeless homolog | Plays an important role in the control of DNA replication, maintenance of replication fork stability, maintenance of genome stability throughout normal DNA replication, DNA repair and in the regulation of the circadian clock. |
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) |
|---|---|---|---|---|
| TIMELESS | Other/Unknown | no | Timeless_N, TIMELESS_PAB, Timeless |
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 |
|---|---|
| embryo | 1 |
| ganglionic eminence | 1 |
| ventricular zone | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| TIMELESS | 215 | ubiquitous | marker | ventricular zone, embryo, ganglionic eminence |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| TIMELESS | 2,560 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| TIMELESS | Q9UNS1 | 9 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 1. 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 |
|---|---|---|---|---|
| Processing of DNA double-strand break ends | 1 | 114.2× | 0.009 | TIMELESS |
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 |
|---|---|---|---|---|
| cellular response to bleomycin | 1 | 5617.3× | 0.001 | TIMELESS |
| replication fork arrest | 1 | 4213.0× | 0.001 | TIMELESS |
| detection of abiotic stimulus | 1 | 3370.4× | 0.001 | TIMELESS |
| cellular response to cisplatin | 1 | 3370.4× | 0.001 | TIMELESS |
| cell cycle phase transition | 1 | 2808.7× | 0.001 | TIMELESS |
| cellular response to hydroxyurea | 1 | 1404.3× | 0.002 | TIMELESS |
| DNA replication checkpoint signaling | 1 | 1296.3× | 0.002 | TIMELESS |
| branching morphogenesis of an epithelial tube | 1 | 732.7× | 0.003 | TIMELESS |
| replication fork processing | 1 | 421.3× | 0.005 | TIMELESS |
| positive regulation of double-strand break repair via homologous recombination | 1 | 383.0× | 0.005 | TIMELESS |
| morphogenesis of an epithelium | 1 | 343.9× | 0.005 | TIMELESS |
| positive regulation of double-strand break repair | 1 | 343.9× | 0.005 | TIMELESS |
| regulation of circadian rhythm | 1 | 259.3× | 0.006 | TIMELESS |
| circadian rhythm | 1 | 244.2× | 0.006 | TIMELESS |
| lung development | 1 | 198.3× | 0.006 | TIMELESS |
| DNA repair | 1 | 63.8× | 0.019 | TIMELESS |
| DNA damage response | 1 | 53.5× | 0.021 | TIMELESS |
| cell division | 1 | 46.2× | 0.023 | TIMELESS |
| negative regulation of DNA-templated transcription | 1 | 31.6× | 0.032 | TIMELESS |
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 |
|---|---|---|
| TIMELESS | 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 | TIMELESS |
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) |
|---|---|---|
| TIMELESS | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: TIMELESS