{"evidence_bundle_schema":"nmd-vcell-gene-evidence-bundle/1.0","core_schema":"nmd-vcell-gene-ssr-core/1.2","schema_version":"1.1","resource_release":"v1.2.0-measured-dmd-evidence","evidence_freeze":"2026-08-03","interface_build":"EA-20260817-57","record_count":17921,"gene":"EPS8L1","identifiers":{"hgnc_id":"HGNC:21295","ensembl_gene_id":"ENSG00000131037","ncbi_gene_id":54869},"summary":{"dataset_record_count":6,"records_with_numeric_value":6,"dmd_source_record_count":2,"dmd_sources_agreeing":2,"dmd_sources_assessed":2,"calibrated_dmd_prediction_available":false},"availability":[{"module":"stable_gene_identity","state":"released"},{"module":"hepg2_perturbation_observation","state":"measured"},{"module":"skeletal_muscle_expression","state":"measured"},{"module":"healthy_myoblast_fusion_screen","state":"not_assessed"},{"module":"dmd_source_context","state":"assessed"},{"module":"independent_dmd_muscle_perturbation","state":"missing"},{"module":"per_gene_deg_pathway_profile","state":"source_context_summary_partially_published"},{"module":"calibrated_dmd_response_prediction","state":"locked"}],"dataset_records":[{"record_id":"EPS8L1:HEPG2_CRISPRI:OBSERVED_CELLS","dataset_id":"HEPG2_CRISPRI_FROZEN_AGGREGATE","evidence_type":"perturbation_observation","context":"HepG2; CRISPRi; non-muscle, non-DMD context","endpoint":"Eligible cells contributing to the frozen target-level aggregate","metric":"observed_cells","value":269,"unit":"cells","fdr":null,"signed_score":null,"sample_size":269,"sample_unit":"cells","n_contexts":1,"n_rows":null,"n_significant":null,"status":"measured","source_url":"/resource/perturbation/EPS8L1/","interpretation":"Observed perturbation coverage in HepG2. The cells are not independent biological replicates and do not establish a DMD effect."},{"record_id":"EPS8L1:GTEX_V8:SKELETAL_MUSCLE_TPM","dataset_id":"GTEX_V8_SKELETAL_MUSCLE","evidence_type":"expression_context","context":"Human skeletal muscle tissue","endpoint":"Expression feasibility context","metric":"median_tpm","value":0.236384,"unit":"TPM","fdr":null,"signed_score":null,"sample_size":null,"sample_unit":"GTEx skeletal-muscle samples; denominator not carried in the compact gene record","n_contexts":1,"n_rows":null,"n_significant":null,"status":"context_only","source_url":"/resource/api/v1.1/core-gene/EPS8L1","interpretation":"Tissue expression supports assay feasibility only; it does not establish cell-type expression, function or perturbation response."},{"record_id":"EPS8L1:DEPMAP:MEDIAN_GENE_EFFECT","dataset_id":"DEPMAP_CONTEXT_METRIC","evidence_type":"dependency_context","context":"DepMap cell-line dependency context; not muscle-specific","endpoint":"Median gene-effect context metric","metric":"median_gene_effect","value":-0.1336585644119518,"unit":"DepMap gene-effect score","fdr":null,"signed_score":null,"sample_size":null,"sample_unit":"cell lines; denominator not carried in the compact gene record","n_contexts":null,"n_rows":null,"n_significant":null,"status":"context_only","source_url":"/resource/api/v1.1/core-gene/EPS8L1","interpretation":"A broad dependency context metric. It is not a safety result and is not evidence of disease-selective dependency."},{"record_id":"EPS8L1:HEPG2:COUNTERALIGNMENT","dataset_id":"HEPG2_CONTEXT_RELATIONSHIP_V06","evidence_type":"context_relationship","context":"Same processed HepG2 perturbation substrate","endpoint":"Contextual signature relationship","metric":"observed_counteralignment","value":0.0035653885102933,"unit":"unitless score","fdr":null,"signed_score":null,"sample_size":269,"sample_unit":"cells contributing to the target aggregate","n_contexts":1,"n_rows":null,"n_significant":null,"status":"context_only","source_url":"/resource/perturbation/EPS8L1/","interpretation":"A descriptive relationship within the same processed context; it is not therapeutic rescue or an independently validated effect."},{"record_id":"EPS8L1:DMD_SOURCE:dmd_single_cell_baseline_pseudobulk","dataset_id":"DMD single-cell baseline pseudobulk","evidence_type":"disease_context_effect","context":"DMD skeletal-muscle single-cell source; baseline pseudobulk summaries","endpoint":"Disease-associated baseline expression","metric":"median_source_effect","value":0.2625310541671481,"unit":"source-specific effect scale","fdr":null,"signed_score":0.000048036647004286334,"sample_size":null,"sample_unit":"source contexts / analysis rows","n_contexts":5,"n_rows":5,"n_significant":0,"status":"context_only","source_url":"/resource/api/v1.2/dmd-prior/genes/EPS8L1.json","interpretation":"Observed-expression source summary; contextual evidence rather than candidate perturbation truth."},{"record_id":"EPS8L1:DMD_SOURCE:dmd_single_cell_delta_did_final_labels","dataset_id":"DMD single-cell delta / DID","evidence_type":"disease_context_effect","context":"DMD skeletal-muscle single-cell source; final-label delta / DID summaries","endpoint":"Disease-associated change across declared contexts","metric":"median_source_effect","value":0.6038864272013212,"unit":"source-specific effect scale","fdr":null,"signed_score":0.000011058807765106453,"sample_size":null,"sample_unit":"source contexts / analysis rows","n_contexts":6,"n_rows":6,"n_significant":0,"status":"context_only","source_url":"/resource/api/v1.2/dmd-prior/genes/EPS8L1.json","interpretation":"Observed-expression source summary; contextual evidence rather than candidate perturbation truth."}],"missing_evidence":[{"module":"independent_dmd_muscle_perturbation","status":"missing_not_negative","unlock_condition":"Run an independent, quality-controlled perturbation in a declared DMD-relevant human myogenic model with biological replication."},{"module":"per_gene_deg_pathway_and_cell_state_profile","status":"source_context_summary_only_dmd_perturbation_missing","unlock_condition":"The v1.7 bridge publishes a HepG2 source-context summary and cross-DMD-source pathway projections. A disease-matched candidate perturbation with a biological denominator remains required."},{"module":"calibrated_dmd_response_prediction","status":"locked","unlock_condition":"Accumulate prospective DMD perturbation outcomes and pass the registered calibration, applicability and external-validation gates."}],"links":{"gene_record":"/resource/gene/EPS8L1?view=research","core_record":"/resource/api/v1.1/core-gene/EPS8L1","dmd_prior":"/resource/api/v1.2/dmd-prior/genes/EPS8L1.json","candidate_dmd_statistical_bridge":"/resource/api/v1.7/candidate-dmd-statistical-bridge/candidate-summary.json","normalized_tsv":"/resource/export/gene-evidence/EPS8L1.tsv","study_card":"/resource/study-card/EPS8L1"},"claim_boundary":"Dataset rows preserve their original context and scale. They are not pooled into a causal effect, therapeutic rank or calibrated DMD prediction."}