Loci

Tandem repeat loci associated with Mendelian diseases. Full Dataset
Motif length
3 loci
HOXA13HFG-IHand-foot-genital syndrome 1chr7:27199924-27199966
NGC
AD
HOXA13HFG-IIHand-foot-genital syndrome 2chr7:27199825-27199861
NGC
AD
HOXA13HFG-IIIHand-foot-genital syndrome 3chr7:27199678-27199732
NGC
AD
3 rows
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Downloads

T2T-chm13hg19hg38
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.

Pathogenic Size Range

110100100010kFAME4SCA10FAME3SCA36MRUPAVFAME6GDPAGCANVASFTDALS1FAME2FRA7ACPUMNMESCA27BFRA2AFRA12AFRAXEFXS, FXTAS, POF1SCA31FAME1OPML1EPM1OPDM4OPDM5JBSDM2FAME7RCPSOPDM1OPDM2DBQD2, BSSSCA8XDPNIIDSCA3, MJDDMDFRDASCA37SCA12FECD3DM1SCA17DRPLASCA4SCAHDL2CJDSCA1SBMASCA7HDSCA2CCHSTOFHPE5HFG-IHFG-IIISD5XLMRSCA6PRTSCCDHFG-IIHSAN VIIIEIEE1BPESFAME8OPMDVACTERLXALS1EDM1, PSACHCHNG3HMNR7CPEO
Allele sizeBenignIntermediatePathogenicAllele size in base pairsDisease

Age of Onset

020406080FECD3CJDSCA36ALS1FAME6MRUPAVSCA27BFTDALS1OPMDCANVASADTKDFAME7SCA37SCA6OPML1OPDM2XDPSCA4HDL2SCA10FAME3FAME4NIIDOPDM5OPDM4SCA31SCA12FAME1SBMAFAME8OPDM1SCA1EPM1DMDSCAFAME2SCA17EDM1, PSACHSCA3, MJDSCA2FRDAGDPAGFRA7AHDFRA2AFRAXENMEDM2SCA8DRPLADM1XLMRSCA7EIEE1PRTSFRA12ACCHSFXS, FXTAS, POF1HMNR7
InheritanceADARXDXRAge of onset (years)Disease
Contact Us
Want to suggest a new locus or an edit to an existing one? Use the new locus form or go to an existing locus and use the suggest edit form.
Details
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/loci/?tag=hand_foot_genital_syndrome
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Engine
Blink 141.0.0.0
OS
Linux
Device
CPU
amd64
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