MECP2
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000453960.7 |
|---|---|
| ClinVar P/LP records | 783 |
| Low-record-burden flag | no |
| Unit rows | 8 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 81.5% | 9,878 bp |
| Adjacent exon block | 99.7% | 10,343 bp |
| Downstream-CDS | 97.3% | 1,432 bp |
Why this classification?
- Downstream-CDS record coverage is 97.3% with an estimated payload of 1,432 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 |
|---|---|---|---|---|
| Rett syndrome | 561 | Boundary-CDS payload architecture | 0.896613 | 0.862745 |
| Severe neonatal-onset encephalopathy with microcephaly | 232 | Boundary-CDS payload architecture | 0.892241 | 0.857759 |
| Inborn genetic diseases | 56 | Boundary-CDS payload architecture | 0.928571 | 0.892857 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 51 | Boundary-CDS payload architecture | 0.960784 | 0.941176 |
| MECP2-related disorder | 30 | Boundary-CDS payload architecture | 0.966667 | 0.933333 |
| Syndromic X-linked intellectual disability Lubs type | 29 | Boundary-CDS payload architecture | 0.965517 | 0.965517 |
| Autism, susceptibility to, X-linked 3 | 25 | Boundary-CDS payload architecture | 0.960000 | 0.920000 |