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SEPT5-GP1BB
Chr 22SEPT5-GP1BB readthrough
This locus represents a naturally occurring read-through transcript between the SEPT5 and GP1BB genes that is subject to nonsense-mediated decay and unlikely to produce functional protein products. No disease associations have been established for this read-through transcript based on the available information.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SEPT5-GP1BB?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
393 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 8 | 2 | 179 | 0 | 189 |
Likely Pathogenic | 13 | 22 | 0 | 0 | 35 |
VUS | 0 | 113 | 13 | 0 | 126 |
Likely Benign | 2 | 5 | 4 | 24 | 35 |
Benign | 0 | 3 | 1 | 0 | 4 |
Conflicting | — | 4 | |||
| Total | 23 | 145 | 197 | 24 | 393 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SEPT5-GP1BB · 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 open access results found
External Resources
Links to major genomics databases and tools