Loci

Tandem repeat loci associated with Mendelian diseases. Full Dataset

Tags

Motif length–

Inheritance

19 loci


		AFF2	FRAXE	Fragile X syndrome, FRAXE type	chrX:148500604-148500753	GCC	XR
		AR	SBMA	Spinal and bulbar muscular atrophy, Kennedy Disease	chrX:67545316-67545419	GCA	XR
		ATN1	DRPLA	Dentatorubral-Pallidoluysian Atrophy	chr12:6936716-6936775	CAG	AD
		ATXN1	SCA1	Spinocerebellar ataxia type 1	chr6:16327633-16327724	CTG	AD
		ATXN2	SCA2	Spinocerebellar ataxia type 2	chr12:111598949-111599019	CTG	AD/AR
		ATXN3	SCA3, MJD	Spinocerebellar ataxia type 3/Machado-Joseph disease	chr14:92071010-92071052	CTG	AD
		ATXN7	SCA7	Spinocerebellar ataxia type 7	chr3:63912684-63912715	CAG	AD
		CSTB	EPM1	Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD)	chr21:43776442-43776479	CGCGGGGCGGGG	AR
		DMPK	DM1	Myotonic dystrophy type 1	chr19:45770204-45770266	CAG	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	XD
		GIPC1	OPDM2	Oculopharyngodistal myopathy type 2	chr19:14496041-14496075	CCG	AD
		HTT	HD	Huntington disease	chr4:3074876-3074933	CAG	AD
		JPH3	HDL2	Huntington disease-like 2	chr16:87604282-87604329	CTG	AD
		NOP56	SCA36	Spinocerebellar ataxia type 36	chr20:2652732-2652757	GGCCTG	AD
		NUTM2B-AS1	OPML1	Oculopharyngeal myopathy with leukoencephalopathy 1	chr10:79826383-79826404	GGC	AD
		PABPN1	OPMD	Oculopharyngeal muscular dystrophy	chr14:23321472-23321503	GCN	AD/AR
		PHOX2B	CCHS	Congenital central hypoventilation syndrome	chr4:41745972-41746032	GCN	AD
		RFC1	CANVAS	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	chr4:39348424-39348483	AAGGG, ACAGG, AGGGC, AAGGC, AGAGG	AR
		THAP11	SCA51	Spinocerebellar ataxia 51	chr16:67842862-67842950	CAG	AD

19 rowsPer page

Downloads

	T2T-chm13	hg19	hg38
General a general-purpose extended bed file for filtering and annotating loci	.bed	.bed	.bed
TRGT for genotyping full allele sequences in PacBio HiFi reads	.bed	.bed	.bed
Atarva ⚠️ for genotyping full allele sequences in long-read data	.bed .bed.gz .bed.gz.tbi	.bed .bed.gz .bed.gz.tbi	.bed .bed.gz .bed.gz.tbi
LongTR ⚠️ for genotyping full allele sequences in long-read data	.bed	.bed	.bed
Straglr ⚠️ for genotyping allele sizes in long read-data	.bed	.bed	.bed
Stranger ⚠️ for annotating TRGT or ExpansionHunter allele sizes with pathologic implications.	.json	.json	.json

⚠️ Still under development, use with caution

Plots

High-level, visual overview of loci.

Pathogenic Size Range

Age of Onset