Ensembl is currently experiencing issues
The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.
You can check Ensembl's status at status.ensembl.org
FAM27E4
Chr 9family with sequence similarity 27 member E4
Also known as: FAM27E4P
I cannot provide a clinical summary for FAM27E4 as no information about this gene's protein function, associated diseases, or inheritance patterns was provided in the data below the instructions. To write an accurate clinical summary following the specified guidelines, I would need details about what the protein does, what conditions result from mutations, and relevant clinical context.
Some data sources returned errors (1)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/FAM27E4?content-type=application/json&expand=1
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
21 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 19 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 0 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 1 |
| Total | — | 21 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FAM27E4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No publications found for FAM27E4
External Resources
Links to major genomics databases and tools