EP300
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000263253.9 |
|---|---|
| ClinVar P/LP records | 264 |
| Low-record-burden flag | no |
| Unit rows | 175 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 25.0% | 3,305 bp |
| Adjacent exon block | 41.7% | 4,080 bp |
| Downstream-CDS | 99.2% | 7,148 bp |
Why this classification?
- Downstream coverage is high, but boundary, splice, dosage, or context assumptions dominate interpretation.
How to read this page
Record coverage summarizes ClinVar P/LP records mapped to this gene. It does not estimate patient coverage, editing efficiency, therapeutic efficacy, or safety.
Downstream-CDS values are transcript-boundary hypotheses. High downstream coverage can be boundary-driven and should be read with payload and context burden.
Condition-associated pathogenic-record groups
Record-level ClinVar condition facets. These are not patient cohorts, disease prevalence, or patient coverage.
| Condition label | P/LP records | Condition architecture | Local coverage | Boundary-CDS coverage |
|---|---|---|---|---|
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 139 | Boundary-CDS payload architecture | 0.417266 | 0.992806 |
| Inborn genetic diseases | 29 | Boundary-CDS payload architecture | 0.482759 | 1.000000 |