Evidence profile
- L1 resourceStable record released
- L2 HepG2 perturbationnot assessed
- L3a external screenNot assessed
- L3b independent replicationNot assessed
- L4 DMD / muscle validationMissing
- L5 therapeutic / clinicalUnsupported
Stable server-rendered gene record · v1.0.0-database-resource
BLOC1S2
Inspect bounded evidence
Highest supportedL1 resource record
Highest assessedL1 resource record
Legacy integrated DMD priorup
Source agreement2/4 sources
Gene visual profile · 基因证据剖面
One-page evidence profile for BLOC1S2
A four-panel, descriptive view of the same bounded gene record: evidence depth, DMD source matrix, context gauges and the current decision gap. No score, target rank or prediction claim is computed.
DMD source matrix
sc baseline pseudobulkNegative source directionobserved expression · 19 contexts · 0 significant rows
sc delta/DIDPositive source directionobserved expression · 20 contexts · 0 significant rows
DESeq2 source-statePositive source directionobserved expression · 9 contexts · 0 significant rows
NicheNet target-stateNegative source directionregulatory inference · 2 contexts · 0 significant rows
Observed-expression and regulatory-inference channels are displayed side by side and are not pooled as independent cohorts.
Context gauges
Source agreement2/4 sources
Audit agreement, not biological truth.Muscle expressionNot available
Visual guide; ≥1 TPM is the current triage threshold.Observed cellsNot available
Coverage count, not a power calculation.External screenNot assessed
Not assessed is missingness, not a negative result.Gap ladder
GAP-01Direct target-level perturbation evidence is absent
- Current actionInspect bounded evidence
- Highest missing layerL4 dmd functional validation
- Claim boundaryNo P1/P2 prediction claim unlocked
Interpretation boundary: this visual profile reorganizes frozen fields for inspection. It does not create a source-balanced successor result, a causal conclusion, a therapeutic direction or a clinical decision-support claim.
Decision boundary
What must be resolved next
Decision-blocking gapGAP-01 · Direct target-level perturbation evidence is absent
Highest missing layerL4 dmd functional validation
The decision-blocking gap is the next missing layer that prevents the current action from advancing. The highest missing layer is the longer-term evidence ceiling; it is not necessarily the next experiment.
DMD context
Source-state record
| Direction state | conflicted |
|---|---|
| Variant stability | not assessed |
| Evidence modules | direction conflicted |
| Statistical support | direction only no significant context rows |
| Coverage | 4 of 4 sources |
| Uncertainty | direction conflict retained |
Identifiers and context
Machine-resolvable core
| HGNC | HGNC:20984 |
|---|---|
| Ensembl | ENSG00000196072 |
| NCBI Gene | 282991 |
| HepG2 perturbation | not assessed |
| Myoblast screen | not assessed |
| Skeletal-muscle expression | Not available |
Cite this record
Stable identity
Object ID: GENE:v1.0.0-database-resource:BLOC1S2
NMD-VCell Research Workbench. BLOC1S2 evidence record. Resource v1.0.0-database-resource; evidence freeze 2026-07-25; schema 1.1; build EA-20260729-19. DOI pending.