Stable server-rendered gene record · v1.2.0-measured-dmd-evidence
ALMS1
Inspect bounded evidence
G1 · DMD-background evidenceR0 · evidence annotation onlySupported · L1 resource recordAssessed · L1 resource record
What this meansALMS1 does not have an eligible observed perturbation in the current HepG2 release, but it has not been independently perturbed in a DMD muscle model. The available DMD source summaries should still be treated as contextual evidence rather than perturbation truth. The next useful step is an experiment that closes the current evidence gap—not a therapeutic claim.
通俗解释ALMS1在当前HepG2数据中还没有合格的已观察扰动，但尚未在DMD肌肉模型中独立验证。现有DMD来源信息仍只是背景证据，不是扰动真值。下一步应完成能弥补当前证据缺口的受控实验，而不能把它直接称为治疗靶点。
Design the next experiment →Prediction readinessR0 · evidence annotation only
Current evidenceVersioned resource record; no eligible HepG2 perturbation
Additional contextNo qualifying external myogenic screen
Historical DMD prior (legacy)down
Source agreement4/4 sources
Gene Entity Page 2.1 · quantitative layer
Dataset-level evidence for ALMS1
Every row keeps its original context, metric and denominator. Empty fields remain explicit; no cross-source meta-effect is computed.
| Dataset / evidence | Context and endpoint | Observed value | Denominator / support | State and source |
|---|---|---|---|---|
| DMD single-cell baseline pseudobulkdisease context effect | Disease-associated baseline expressionDMD skeletal-muscle single-cell source; baseline pseudobulk summaries | -0.159539 source-specific effect scaleMedian signed score -0.00000576 | 19 contexts · 19 rows0 significant rows | context onlyOpen sourceObserved-expression source summary; contextual evidence rather than candidate perturbation truth. |
| DMD single-cell delta / DIDdisease context effect | Disease-associated change across declared contextsDMD skeletal-muscle single-cell source; final-label delta / DID summaries | -0.053121 source-specific effect scaleMedian signed score -0.00000155 | 19 contexts · 19 rows0 significant rows | context onlyOpen sourceObserved-expression source summary; contextual evidence rather than candidate perturbation truth. |
| SEMA3C DESeq2 source-statedisease context effect | Source-specific differential expressionDMD skeletal-muscle source-state analysis | -0.201708 source-specific effect scaleMedian signed score -0.00003009 | 9 contexts · 9 rows0 significant rows | context onlyOpen sourceObserved-expression source summary; contextual evidence rather than candidate perturbation truth. |
| SEMA3C NicheNet target-statedisease context effect | Inferred target-state relationshipDMD skeletal-muscle regulatory-inference context | -0.066133 source-specific effect scaleMedian signed score -0.00553609 | 2 contexts · 2 rows0 significant rows | context onlyOpen sourceRegulatory-inference channel; displayed separately and not pooled as an independent expression cohort. |
Source-specific effect display
DMD source-effect forest
Position is scaled to the largest absolute effect shown for this gene. Values remain on source-specific scales and are not pooled.
sc baseline pseudobulk-0.15953919 contexts · 0/19 significant rows
sc delta/DID-0.05312119 contexts · 0/19 significant rows
DESeq2 source-state-0.2017089 contexts · 0/9 significant rows
NicheNet target-state-0.0661332 contexts · 0/2 significant rows
Dataset rows preserve their original context and scale. They are not pooled into a causal effect, therapeutic rank or calibrated DMD prediction.
Gene Entity Page 2.1
Entity graph: identity, evidence and prospective objects
This chain shows which objects exist for ALMS1, which are still drafts and which registries are empty. Empty is not a negative experimental result.
Object ID
GENE:v1.2.0-measured-dmd-evidence:ALMS1HGNCHGNC:428
EnsemblENSG00000116127
NCBI Gene7840
Disease scopeDMD evidence context
01 · Gene objectRELEASEDStable identity and typed core record
→02 · Evidence objectReleased record · no eligible perturbationNo DMD perturbation truth is implied
→03 · Model gateR0 · R0 · evidence annotation onlyPredictionReadiness governance state
→04 · Study objectNOT CREATEDNo candidate Study Card in this release
→05 · Prediction objectEMPTYNo immutable prospective prediction
→06 · Outcome objectEMPTYNo linked measured outcome
Claim boundary: object connectivity improves traceability; it does not raise the evidence tier or authorize a therapeutic claim.
Gene visual profile · 基因证据剖面
One-page evidence profile for ALMS1
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.
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
DMD source matrix
sc baseline pseudobulkNegative source directionMedian effect -0.159539 · signed score -0.00000576observed expression · 19 contexts · 0/19 significant rows
sc delta/DIDNegative source directionMedian effect -0.053121 · signed score -0.00000155observed expression · 19 contexts · 0/19 significant rows
DESeq2 source-stateNegative source directionMedian effect -0.201708 · signed score -0.00003009observed expression · 9 contexts · 0/9 significant rows
NicheNet target-stateNegative source directionMedian effect -0.066133 · signed score -0.00553609regulatory inference · 2 contexts · 0/2 significant rows
Observed-expression and regulatory-inference channels are displayed side by side and are not pooled as independent cohorts.
Context gauges
Source agreement4/4 sources
This measures agreement among source pipelines; it is not biological ground truth.Muscle expressionNot available
Visual guide; ≥1 TPM is the current triage threshold.Cells contributing to the aggregateNot available
Coverage count, not a power calculation.External screenNot assessed
No qualifying evidence is available in this release; this is 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
Readiness upgrade requiredAdd a governed perturbation response or direct disease-relevant experimental evidence.
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 | consistent down |
|---|---|
| Variant stability | not assessed |
| Evidence modules | exploratory multisource core |
| Statistical support | direction only no significant context rows |
| Coverage | 4 of 4 sources |
| Uncertainty | direction consistent not formal meta analysis |
Identifiers and context
Machine-resolvable core
| HGNC | HGNC:428 |
|---|---|
| Ensembl | ENSG00000116127 |
| NCBI Gene | 7840 |
| HepG2 perturbation | not assessed |
| HepG2 observed cells | Not available |
| Observed counteralignment | Not available |
| Myoblast screen | not assessed |
| Myoblast fusion-screen effect | Not available |
| Myoblast fusion-screen FDR | Not available |
| Skeletal-muscle expression | Not available |
| DepMap median gene effect | Not available |
Cite this record
Stable identity
Object ID: GENE:v1.2.0-measured-dmd-evidence:ALMS1
NMD-VCell. ALMS1 evidence record. Resource v1.2.0-measured-dmd-evidence; evidence freeze 2026-08-03; schema 1.1; build EA-20260817-57. DOI pending.