XDP_TAF1
- Gene
- TAF1
- Disease
- XDP
- Inheritance
- XR
- Classification
- Definitive
- Total Score
- 13.5
- Publications Reviewed
- 10
- Publication Span
- 29.08 years
- Last Updated
- 08/14/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Genetic evidence
Total: 9.5
| Singular Evidence | Probands | PMID:30973967 | 6 | |
| Collective Evidence | Allele | PMID:29229810 PMID:38835911 PMID:35395816 | 2 | |
| Collective Evidence | Segregation | PMID:29229810 PMID:7668293 | 1.5 |
3 rows
Experimental evidence
Total: 4
| Function | Protein interaction | PMID:38834915 | 0.5 | protein |
| Function | Regulatory impact | PMID:17273961 PMID:29474918 PMID:30973967 | 2 | TAF1 expression, methylation decrease, transcriptome alterations |
| Functional Alteration | Non-patient cells | PMID:35868859 | 0.5 | carrier iPSCs |
| Models | Non-human model organism | PMID:34250228 | 1 | Repeat sizing and somatic instability in human postmortem brain tissues from two XDP patients showed higher median repeat numbers and higher degrees of repeat instability in the basal ganglia and cerebellum compared with blood. |
4 rows
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.