Loci
Tandem repeat loci associated with Mendelian diseases. Full Dataset
Motif length–
22 loci
| AFF2 | FRAXE | Fragile X syndrome, FRAXE type | chrX:148500604-148500753 | GCC (3) | XR | ||
| AR | SBMA | Spinal and bulbar muscular atrophy, Kennedy Disease | chrX:67545316-67545419 | GCA (3) | XR | ||
| ATN1 | DRPLA | Dentatorubral-Pallidoluysian Atrophy | chr12:6936716-6936775 | CAG (3) | AD | ||
| ATXN1 | SCA1 | Spinocerebellar ataxia type 1 | chr6:16327633-16327724 | CTG (3) | AD | ||
| ATXN10 | SCA10 | Spinocerebellar ataxia type 10 | chr22:45795354-45795424 | ATTCT (5) | AD | ||
| ATXN2 | SCA2 | Spinocerebellar ataxia type 2 | chr12:111598949-111599019 | CTG (3) | AD/AR | ||
| ATXN3 | SCA3, MJD | Spinocerebellar ataxia type 3/Machado-Joseph disease | chr14:92071010-92071052 | CTG (3) | AD | ||
| ATXN7 | SCA7 | Spinocerebellar ataxia type 7 | chr3:63912684-63912715 | CAG (3) | AD | ||
| ATXN8OS | SCA8 | Spinocerebellar ataxia type 8 | chr13:70139383-70139429 | CTG (3) | AD | ||
| CNBP | DM2 | Myotonic dystrophy type 2 | chr3:129172576-129172656 | CAGG (4) | AD | ||
| DMPK | DM1 | Myotonic dystrophy type 1 | chr19:45770204-45770266 | CAG (3) | AD | ||
| FMR1 | FXS, FXTAS, POF1 | Fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency FXPOI/POF1 | chrX:147912049-147912111 | CGG (3) | XD | ||
| FXN | FRDA | Friedreich ataxia | chr9:69037286-69037304 | GAA (3) | AR | ||
| HTT | HD | Huntington disease | chr4:3074876-3074933 | CAG (3) | AD | ||
| JPH3 | HDL2 | Huntington disease-like 2 | chr16:87604282-87604329 | CTG (3) | AD | ||
| LRP12 | OPDM1 | Oculopharyngodistal myopathy type 1 | chr8:104588970-104588999 | CGC (3) | AD | ||
| MARCHF6 | FAME3 | Familial adult myoclonic epilepsy type 3 | chr5:10356343-10356411 | TTTCA (5) | AD | ||
| NOP56 | SCA36 | Spinocerebellar ataxia type 36 | chr20:2652732-2652757 | GGCCTG (6) | AD | ||
| NOTCH2NLC | NIID | Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype, Oculopharyngodistal myopathy (OPDM) type 3 | chr1:149390802-149390842 | GGC (3) | AD | ||
| SAMD12 | FAME1 | Familial adult myoclonic epilepsy type 1 | chr8:118366812-118366918 | TGAAA (5) | AD | ||
| STARD7 | FAME2 | Familial adult myoclonic epilepsy 2 | chr2:96197066-96197124 | AAATG (5) | AD | ||
| TBP | SCA17 | Spinocerebellar ataxia type 17 | chr6:170561906-170562017 | GCA (3) | AD |
22 rows
Downloads
| T2T-chm13 | hg19 | hg38 | |
|---|---|---|---|
| General a general-purpose extended bed file for filtering and annotating loci | |||
| TRGT for genotyping full allele sequences in PacBio HiFi reads | |||
| Atarva ⚠️ for genotyping full allele sequences in long-read data | |||
| LongTR ⚠️ for genotyping full allele sequences in long-read data | |||
| Straglr ⚠️ for genotyping allele sizes in long read-data | |||
| Stranger ⚠️ for annotating TRGT or ExpansionHunter allele sizes with pathologic implications. |
⚠️ Still under development, use with caution
Plots
High-level, visual overview of loci.