Loci

Tandem repeat loci associated with Mendelian diseases. Full Dataset

Tags

Motif length–

Inheritance

18 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
		ATXN10	SCA10	Spinocerebellar ataxia type 10	chr22:45795354-45795424	ATTCT	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
		ATXN8OS	SCA8	Spinocerebellar ataxia type 8	chr13:70139383-70139429	CTG	AD
		BEAN1	SCA31	Spinocerebellar ataxia type 31	chr16:66490396-66490466	TGGAA, TAGAA	AD
		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
		HTT	HD	Huntington disease	chr4:3074876-3074933	CAG	AD
		LRP12	OPDM1	Oculopharyngodistal myopathy type 1	chr8:104588970-104588999	CGC	AD
		PLIN4	MRUPAV	Myopathy with Rimmed Ubiquitin-Positive Autophagic Vacuolation, PLIN4-Related Myopathy	chr19:4510727-4513659	TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC	AD
		SAMD12	FAME1	Familial adult myoclonic epilepsy type 1	chr8:118366812-118366918	TGAAA	AD
		TBP	SCA17	Spinocerebellar ataxia type 17	chr6:170561906-170562017	GCA	AD
		THAP11	SCA51	Spinocerebellar ataxia 51	chr16:67842862-67842950	CAG	AD

18 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