PEX1
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000248633.9 |
|---|---|
| ClinVar P/LP records | 469 |
| Low-record-burden flag | no |
| Unit rows | 133 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 19.0% | 767 bp |
| Adjacent exon block | 30.5% | 1,324 bp |
| Downstream-CDS | 96.6% | 3,720 bp |
Why this classification?
- Downstream-CDS record coverage is 96.6% with an estimated payload of 3,720 bp (≤5 kb).
- This label is boundary-based: high coverage can occur when many coding records lie downstream of an early transcript boundary.
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 |
|---|---|---|---|---|
| Zellweger spectrum disorders | 295 | Boundary-CDS payload architecture | 0.308475 | 0.952542 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 215 | Boundary-CDS payload architecture | 0.320930 | 0.953488 |
| Heimler syndrome 1 | 191 | Boundary-CDS payload architecture | 0.293194 | 0.952880 |
| Peroxisome biogenesis disorder 1B | 164 | Boundary-CDS payload architecture | 0.341463 | 0.963415 |
| Peroxisome biogenesis disorder | 45 | Boundary-CDS payload architecture | 0.311111 | 0.933333 |