Loci

Downloads

Full Dataset

TRGT definitions for genotyping in PacBio HiFi reads:
hg19 hg38 T2T-chm13

Extended BED format for filtering genomic data:
hg19 hg38 T2T-chm13

Table

Full table of tandem repeat loci associated with Mendelian diseases.

7 loci
View
MARCHF6FAME3Familial adult myoclonic epilepsy type 3chr5:10356343-10356411
TTTCA
AD
View
RAI1FAME8Familial adult myoclonic epilepsy type 8chr17:17808358-17808460
TTTCA
AD
View
RAPGEF2FAME7Familial adult myoclonic epilepsy type 7chr4:159342526-159342618
TTTCA
AD
View
SAMD12FAME1Familial adult myoclonic epilepsy type 1chr8:118366812-118366918
TGAAA
AD
View
STARD7FAME2Familial adult myoclonic epilepsy 2chr2:96197066-96197124
AAATG
AD
View
TNRC6AFAME6Familial adult myoclonic epilepsy type 6chr16:24613438-24613532
TTTCA
AD
View
YEATS2FAME4Familial adult myoclonic epilepsy 4chr3:183712187-183712226
TTTCA
AD
7 rows

Plots

High-level, visual overview of loci.

Pathogenic Size Range

110100100010kFAME4SCA10FAME3SCA36FAME6GDPAGCANVASFTDALS1FAME2FRA7ANMESCA27BFRA2AFRA12AFRAXEFXS, FXTAS, POF1SCA31FAME1OPML1EPM1OPDM4OPDMJBSDM2FAME7RCPSOPDM1OPDM2DBQD2, BSSSCA8XDPNIIDSCA3, MJDFRDASCA37SCA12FECD3DM1SCA17DRPLASCA4SCAHDHDL2CJDSCA1SBMASCA7SCA2CCHSTOFHPE5HFG-IHFG-IIISD5XLMRSCA6PRTSCCDHFG-IIHSAN VIIIEIEE1BPESFAME8OPMDVACTERLXEDM1, PSACHCHNG3HMNR7ADTKD
Allele sizeBenignIntermediatePathogenicAllele size in base pairsDisease

Age of Onset

020406080FECD3CJDSCA36FAME6SCA27BFTDALS1OPMDCANVASSCA37ADTKDFAME7SCA6OPML1SCA4OPDM2HDL2FAME1XDPSCA10OPDMFAME3NIIDOPDM4FAME4SBMASCA31SCA12OPDM1FAME8SCA1EPM1FAME2SCASCA3, MJDEDM1, PSACHSCA17SCA2FRDAGDPAGFRA7AFRAXEFRA2AHDNMEEIEE1PRTSDRPLASCA7SCA8DM2FRA12ADM1FXS, FXTAS, POF1CCHSXLMRHMNR7
InheritanceADARXDXRAge of onset (years)Disease