Atelis syndrome 1
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Summary
Atelis syndrome 1 (MONDO:0859575) is a disease caused by SLF2 (GenCC Strong), with 1 cohort gene.
At a glance
- Causal gene: SLF2 (GenCC Strong)
- Cohort genes: 1
- ClinVar variants: 7
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Atelis syndrome 1 |
| Mondo ID | MONDO:0859575 |
| OMIM | 620184 |
| UMLS | C5774281 |
| MedGen | 1824054 |
| GARD | 0026748 |
| Is cancer (heuristic) | no |
Data availability: 7 ClinVar variants · 3 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary neoplastic syndrome › mosaic variegated aneuploidy syndrome › Atelis syndrome 1
Related subtypes (6): mosaic variegated aneuploidy syndrome 1, mosaic variegated aneuploidy syndrome 2, mosaic variegated aneuploidy syndrome 3, mosaic variegated aneuploidy syndrome 4, mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition, Atelis syndrome 2
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
7 retrieved; paginated sample, class counts are floors:
5 pathogenic, 2 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 2443709 | NM_018121.4(SLF2):c.1006dup (p.Arg336fs) | SLF2 | Pathogenic | no assertion criteria provided |
| 2443710 | NM_018121.4(SLF2):c.2582A>T (p.Asn861Ile) | SLF2 | Pathogenic | no assertion criteria provided |
| 2443711 | NM_018121.4(SLF2):c.2719dup (p.Ser907fs) | SLF2 | Pathogenic | no assertion criteria provided |
| 2443712 | NM_018121.4(SLF2):c.2347_2348del (p.Asp783fs) | SLF2 | Pathogenic | no assertion criteria provided |
| 2443713 | NM_018121.4(SLF2):c.568C>T (p.Arg190Ter) | SLF2 | Pathogenic | no assertion criteria provided |
| 4538378 | NM_018121.4(SLF2):c.1966_1969dup (p.Thr657fs) | SLF2 | Likely pathogenic | criteria provided, single submitter |
| 4845892 | NM_018121.4(SLF2):c.1710_1714dup (p.Pro572fs) | SLF2 | Likely pathogenic | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 3 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| SLF2 | Strong | Autosomal recessive | Atelis syndrome 1 | 3 |
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 |
|---|---|---|---|---|---|
| SLF2 | HGNC:17814 | ENSG00000119906 | Q8IX21 | SMC5-SMC6 complex localization factor protein 2 | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| SLF2 | SMC5-SMC6 complex localization factor protein 2 | Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance. |
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) |
|---|---|---|---|---|
| SLF2 | Other/Unknown | no | FAM178, CANIN_dom |
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 |
|---|---|
| adrenal tissue | 1 |
| calcaneal tendon | 1 |
| corpus callosum | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| SLF2 | 284 | ubiquitous | marker | adrenal tissue, corpus callosum, calcaneal tendon |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| SLF2 | 958 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| SLF2 | Q8IX21 | 1 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).
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 |
|---|---|---|---|---|
| positive regulation of maintenance of mitotic sister chromatid cohesion | 1 | 3370.4× | 0.003 | SLF2 |
| chromatin looping | 1 | 1203.7× | 0.003 | SLF2 |
| protein localization to site of double-strand break | 1 | 1053.2× | 0.003 | SLF2 |
| regulation of telomere maintenance | 1 | 842.6× | 0.003 | SLF2 |
| positive regulation of double-strand break repair | 1 | 343.9× | 0.004 | SLF2 |
| positive regulation of protein-containing complex assembly | 1 | 337.0× | 0.004 | SLF2 |
| protein sumoylation | 1 | 324.1× | 0.004 | SLF2 |
| double-strand break repair via homologous recombination | 1 | 156.0× | 0.007 | SLF2 |
| DNA damage response | 1 | 53.5× | 0.019 | SLF2 |
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 |
|---|---|---|
| SLF2 | 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 | SLF2 |
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) |
|---|---|---|
| SLF2 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: SLF2