Stable server-rendered gene record · v1.2.0-measured-dmd-evidence
DDX19B
Computational replication
G4 · muscle-context screen, not DMD replicationR2 · muscle-context bridge evidenceSupported · L2 observed same context perturbationAssessed · L3a external context screen
What this meansDDX19B has been experimentally perturbed in HepG2 cells, but it has not been independently perturbed in a DMD muscle model. Different DMD datasets do not completely agree on its disease-associated direction. The next useful step is computational replication—not a therapeutic claim.
通俗解释DDX19B已经在HepG2细胞中做过扰动，但尚未在DMD肌肉模型中独立验证。不同DMD数据集对它的疾病相关方向并不完全一致。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 readinessR2 · muscle-context bridge evidence
Current evidenceObserved perturbation in the same HepG2 context
Additional contextAssessed · no current hit
Historical DMD prior (legacy)up
Source agreement1/2 sources
Gene Entity Page 2.1 · quantitative layer
Dataset-level evidence for DDX19B
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 |
|---|---|---|---|---|
| HEPG2_CRISPRI_FROZEN_AGGREGATEperturbation observation | Eligible cells contributing to the frozen target-level aggregateHepG2; CRISPRi; non-muscle, non-DMD context | 145 cells | 145 cells | measuredOpen sourceObserved perturbation coverage in HepG2. The cells are not independent biological replicates and do not establish a DMD effect. |
| GTEX_V8_SKELETAL_MUSCLEexpression context | Expression feasibility contextHuman skeletal muscle tissue | 7.22865 TPM | 1 contexts · row count unavailable | context onlyOpen sourceTissue expression supports assay feasibility only; it does not establish cell-type expression, function or perturbation response. |
| DEPMAP_CONTEXT_METRICdependency context | Median gene-effect context metricDepMap cell-line dependency context; not muscle-specific | -0.21244 DepMap gene-effect score | Denominator not carried | context onlyOpen sourceA broad dependency context metric. It is not a safety result and is not evidence of disease-selective dependency. |
| HEPG2_CONTEXT_RELATIONSHIP_V06context relationship | Contextual signature relationshipSame processed HepG2 perturbation substrate | 0.018132 unitless score | 145 cells contributing to the target aggregate | context onlyOpen sourceA descriptive relationship within the same processed context; it is not therapeutic rescue or an independently validated effect. |
| GSE293514screen result | Fusion-positive enrichmentHealthy human myoblast fusion CRISPR screen | 0.069099 log fold-changeFDR 0.999999 | 1 contexts · 1 rows0 significant rows | assessed no hitOpen sourceHealthy-myoblast fusion endpoint only. A no-hit result is endpoint-specific and is not evidence of no muscle or DMD effect. |
| DMD single-cell baseline pseudobulkdisease context effect | Disease-associated baseline expressionDMD skeletal-muscle single-cell source; baseline pseudobulk summaries | 0.22745 source-specific effect scaleMedian signed score 0.00000697 | 17 contexts · 17 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 | -0.215494 source-specific effect scaleMedian signed score -0.00000506 | 18 contexts · 18 rows0 significant rows | context onlyOpen sourceObserved-expression source summary; contextual evidence rather than candidate perturbation truth. |
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+0.2274517 contexts · 0/17 significant rows
sc delta/DID-0.21549418 contexts · 0/18 significant rows
Dataset rows preserve their original context and scale. They are not pooled into a causal effect, therapeutic rank or calibrated DMD prediction.
Frozen candidate bridge · PCB-v0.2-20260804
Cross-context DMD statistical bridge
Measured HepG2 response is compared with three separately measured DMD pathway axes. Individual source results come first; pooled values are exploratory descriptive summaries only.
Measured candidate DMD perturbations0/21
Validated candidate-level predictions0
Cross-context projection is not a measured DDX19B response in DMD muscle and does not establish rescue, efficacy, or a target rank.
| Measured DMD source | Direct projection ρ | Cascade projection ρ | Statistical unit and ceiling |
|---|---|---|---|
| GSE233606 | -0.086691,360 pathways | -0.075881,360 pathways | one line per condition3566 cells · descriptive unselected gene-axis concordance |
| GSE272233 | -0.102861,320 pathways | -0.021881,320 pathways | 3 reported biological repeats per group21 samples · background-specific correction response |
| GSE277637 | 0.13341,360 pathways | 0.191151,360 pathways | 4 lines with one shared WT10480 cells; 4 pseudobulks · line-specific descriptive effects |
Why the workflow abstains
- weak split half measurement
- disease source projection inconsistent
- correction alignment not positive
Pathways overlap and the three source vectors are not independent studies. HepG2 cell-level statistics support source-context exploration only. The disease-matched functional-validation gate remains open.
What this candidate is for
Does the DDX19B evidence pattern survive an independent dataset and frozen analysis workflow?
A candidate record authorizes a bounded question and next experiment. It does not authorize a therapeutic or clinical claim.
How would the result change the decision?
SupportiveRetain the candidate and move to its next context-specific gate if direction and uncertainty reproduce.
NullRetain the negative result and do not escalate from the original analysis alone if replication fails with adequate QC.
Inconclusive / QC failureMark the replication non-evaluable when coverage, mapping or source design prevents a fair test.
Gene Entity Page 2.1
Entity graph: identity, evidence and prospective objects
This chain shows which objects exist for DDX19B, 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:DDX19BHGNCHGNC:2742
EnsemblENSG00000157349
NCBI Gene11269
Disease scopeDMD evidence context
01 · Gene objectRELEASEDStable identity and typed core record
→02 · Evidence objectObserved · context-boundedNo DMD perturbation truth is implied
→03 · Model gateR2 · R2 · muscle-context bridge evidencePredictionReadiness governance state
→04 · Study objectDRAFT · editableCandidate Study Card available
→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 DDX19B
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 perturbationassessed
- L3a external screenAssessed · no current hit
- L3b independent replicationNot assessed
- L4 DMD / muscle validationMissing
- L5 therapeutic / clinicalUnsupported
DMD source matrix
sc baseline pseudobulkPositive source directionMedian effect +0.22745 · signed score 0.00000697observed expression · 17 contexts · 0/17 significant rows
sc delta/DIDNegative source directionMedian effect -0.215494 · signed score -0.00000506observed expression · 18 contexts · 0/18 significant rows
Observed-expression and regulatory-inference channels are displayed side by side and are not pooled as independent cohorts.
Context gauges
Source agreement1/2 sources
This measures agreement among source pipelines; it is not biological ground truth.Muscle expression7.229 TPM
Visual guide; ≥1 TPM is the current triage threshold.Cells contributing to the aggregate145
Coverage count, not a power calculation.External screenAssessed · no current hit
This no-hit result is specific to the fusion-screen endpoint; it does not show that the gene has no muscle function.Gap ladder
GAP-07Independent computational replication is absent
- Current actionComputational replication
- 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-07 · Independent computational replication is absent
Highest missing layerL4 dmd functional validation
Readiness upgrade requiredRun an independent DMD/control myogenic perturbation with predeclared molecular, state and functional endpoints.
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 | sign varied across variants |
| Evidence modules | direction conflicted |
| Statistical support | direction only no significant context rows |
| Coverage | 2 of 4 sources |
| Uncertainty | direction conflict retained |
Identifiers and context
Machine-resolvable core
| HGNC | HGNC:2742 |
|---|---|
| Ensembl | ENSG00000157349 |
| NCBI Gene | 11269 |
| HepG2 perturbation | assessed |
| HepG2 observed cells | 145 |
| Observed counteralignment | 0.01813225 |
| Myoblast screen | assessed |
| Myoblast fusion-screen effect | 0.069099 log fold-change |
| Myoblast fusion-screen FDR | 0.999999 |
| Skeletal-muscle expression | 7.22865 TPM |
| DepMap median gene effect | -0.21244038 |
Cite this record
Stable identity
Object ID: GENE:v1.2.0-measured-dmd-evidence:DDX19B
NMD-VCell. DDX19B evidence record. Resource v1.2.0-measured-dmd-evidence; evidence freeze 2026-08-03; schema 1.1; build EA-20260817-57. DOI pending.