MSANTD3-TMEFF1
Chr 9MSANTD3-TMEFF1 readthrough
Also known as: C9orf3-TMEFF1, C9orf30-TMEFF1
The MSANTD3-TMEFF1 fusion protein combines DNA-binding domains from MSANTD3 with transmembrane and growth factor-like domains from TMEFF1 through naturally occurring read-through transcription. No pediatric neurological diseases have been definitively associated with mutations in this fusion transcript. The moderate loss-of-function intolerance scores (pLI 0.24, LOEUF 0.51) suggest some evolutionary constraint but do not indicate strong haploinsufficiency.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MSANTD3-TMEFF1 · 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