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C9ORF47
Chr 9chromosome 9 open reading frame 47
Also known as: C9orf108, bA791O21.3
The protein encoded by this gene functions as a receptor for sphingosine 1-phosphate (S1P), a bioactive lysophospholipid that mediates cell proliferation and suppression of apoptosis. No disease associations have been established for mutations in C9ORF47. The gene appears tolerant to loss-of-function mutations based on population genetic data.
Some data sources returned errors (1)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/C9ORF47?content-type=application/json&expand=1
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C9ORF47 · 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