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FSAF1
Chr 140S small subunit processome assembly factor 1
Also known as: C1orf131
Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in chromosome. Part of small-subunit processome. [provided by Alliance of Genome Resources, Jul 2025]
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/FSAF1?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
18 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 | 0 | 0 | 0 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 2 | 0 | 0 | 2 |
Likely Benign | 0 | 0 | 2 | 0 | 2 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 3 | 2 | 0 | 5 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →38 pathogenic / likely-pathogenic (of 48) ClinVar copy-number / structural variants overlap FSAF1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →
Protein Context — Lollipop Plot
FSAF1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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 →External Resources
Links to major genomics databases and tools