EP400P1
pseudoEP400 pseudogene 1
Gene summary
Predicted to enable serine-type endopeptidase activity. Involved in transcription initiation-coupled chromatin remodeling. Located in nucleus. Part of Swr1 complex. [provided by Alliance of Genome Resources, Jun 2026]
- EP400NL
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
GenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to EP400P1 variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000443539
- Coding exons
- 3
- Length
- 44202
- Individuals with no LoFs
- 124933
- Homozygous LoFs
- 5
- Heterozygous LoFs
- 751
- Defined
- 125689
- p
- 0.00301
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.869 | 155 | 189 | 0.822 | 0.0000111 | 2283 |
| Missense (PolyPhen) | 45 | 67.156 | 0.67008 | 908 | ||
| Synonymous | 0.228 | 88 | 90.8 | 0.970 | 0.00000633 | 749 |
| Loss of Function | 0.478 | 9 | 10.7 | 0.842 | 5.28e-7 | 122 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0015 | 0.0014 | notable |
| Latino/Admixed American | 0.0039 | 0.0039 | notable |
| Ashkenazi Jewish | 0.0010 | 0.00099 | rare |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.00093 | 0.00092 | rare |
| European (Non-Finnish) | 0.0046 | 0.0046 | notable |
| South Asian | 0.00079 | 0.00078 | rare |
| Other | 0.0044 | 0.0044 | notable |
dbNSFP Gene Annotations
Source:
Essentials
- Essential (gene trap)
- N