FXS_FMR1
- Gene
- FMR1
- Disease
- FXS
- Inheritance
- XD
- Classification
- Definitive
- Total Score
- 14.5
- Publications Reviewed
- 8
- Publication Span
- 28.67 years
- Last Updated
- 8/18/2025
- Curator(s)
- Macayla Weiner
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.
Genetic evidence
Total: 11
| Singular Evidence | Probands | PMID:32463542 | 6 | 2362 probands | from 2 cohorts | |
| Statistics | Case-Control Data | PMID:26491488 | 5 | statistically significant, no bias, not well matched |
2 rows
Experimental evidence
Total: 3.5
| Function | Biochemical function | PMID:31342442 | 0.5 | transcriptional silencing of gene | ||
| Function | Protein interaction | PMID:1342442 | 0.5 | absence of [FMRP] evokes FXS; "associated marked decrease in... protein product" | ||
| Function | Regulatory Impact | PMID:30642066 | 0.5 | It is believed that only a small number of embryonic progenitor cells will go on to form the brain, so the ratio of cells that have the affected X active to silenced is thought to significantly affect the level of FMRP expression in the developing central nervous system. | ||
| Functional Alteration | Patient cells | PMID:30678024 | 0.5 | leads to abnormal methylation of MFR1 | ||
| Models | Non-human model organism | PMID:29868108 | 1 | 257 patients | ||
| Models | Cell culture | PMID:25287458 | 0.5 | control humans |
6 rows