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KYAT1-SPOUT1
Chr 9KYAT1-SPOUT1 readthrough
This locus produces a naturally occurring readthrough fusion protein combining kynurenine aminotransferase 1 and SPOUT domain containing methyltransferase 1 functions. No disease-causing mutations or associated neurological disorders have been reported for this fusion transcript to date.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/KYAT1-SPOUT1?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
123 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 | 0 | 0 | 16 | 0 | 16 |
Likely Pathogenic | 0 | 6 | 0 | 0 | 6 |
VUS | 2 | 40 | 3 | 1 | 46 |
Likely Benign | 1 | 2 | 3 | 4 | 10 |
Benign | 0 | 6 | 1 | 4 | 11 |
Conflicting | — | 2 | |||
| Total | 3 | 54 | 23 | 9 | 91 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KYAT1-SPOUT1 · 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