STRipy - Database of Short Tandem Repeats

Database of Short Tandem Repeats

Locus	Repeat type	Motif	Region	Normal	Intermediate	Pathogenic	Inheritance	Disease
ABCD3	Standard	GCC	5′ UTR	–	–	≥118	AD	Oculopharyngodistal myopathy (OPDM)
AFF2	Standard	CCG	5′ UTR	6-25	–	≥200	XLR	FRAXE mental retardation (FRAXE)
AR	Standard	CAG	Coding	17-35	–	≥40	XLR	Spinal and bulbar muscular atrophy (SBMA)
ARX_1	Imperfect GCN	GCN	Coding	16 16	– –	≥23 ≥18	XLR XLR	Developmental and epileptic encephalopathy-1 (DEE1) X-linked mental retardation with or without seizures (MRXARX)
ARX_2	Imperfect GCN	GCN	Coding	12 12 12	– – –	≥20 ≥20 ≥23	XLR XLR XLR	Developmental and epileptic encephalopathy-1 (DEE1) Partington syndrome (PRTS) X-linked mental retardation with or without seizures (MRXARX)
ATXN10	Standard	ATTCT	Intron	10-29	30-799	≥800	AD	Spinocerebellar ataxia 10 (SCA10)
ATXN8OS	Standard	CTG	3′ UTR	2-37	38-79	≥80	AD	Spinocerebellar ataxia 8 (SCA8)
ATN1	Standard	CAG	Coding	7-23	–	≥49	AD	Dentatorubral-pallidoluysian atrophy (DRPLA)
ATXN1	Standard	CAG	Coding	6-32	36-38	≥39	AD	Spinocerebellar ataxia 1 (SCA1)
ATXN2	Standard	CAG	Coding	13-31	32-34	≥35	AD	Spinocerebellar ataxia 2 (SCA2)
ATXN3	Standard	CAG	Coding	12-44	45-55	≥56	AD	Spinocerebellar ataxia 3 (SCA3)
ATXN7	Standard	CAG	Coding	4-35	28-35	≥36	AD	Spinocerebellar ataxia 7 (SCA7)
BEAN1	Nested	TGGAA	Intron	0	–	≥500	AD	Spinocerebellar ataxia 31 (SCA31)
C9ORF72	Standard	GGGGCC	Intron	1-19	20-23	≥24	AD	Amyotrophic lateral sclerosis and/or frontotemporal dementia (FTDALS1)
CACNA1A	Standard	CAG	Coding	4-18	19	≥21	AD	Spinocerebellar ataxia 6 (SCA6)
CBL	Standard	CCG	5′ UTR	8-80	85-100	≥101	NI	Jacobsen syndrome (JBS)
CNBP	Standard	CCTG	Intron	≤29	30-55	≥55	AD	Myotonic dystrophy 2 (DM2)
COMP	Standard	GAC	Coding	5 5	– –	≥6 ≥7	AD AD	Multiple epiphyseal dysplasia (EDM1) Pseudoachondroplasia (PSACH)
CSTB	VNTR	CCCCGC...	Promoter	2-3	–	≥30	AR	Myoclonic epilepsy of Unverricht and Lundborg (ULD)
DAB1	Nested	ATTTC	Intron	0	–	≥31	AD	Spinocerebellar ataxia 37 (SCA37)
DIP2B	Standard	CGG	5′ UTR	6-23	–	≥273	AD	Mental retardation, FRA12A type (MRFRA12A)
DMD	Standard	GAA	Intron	11-33	–	≥59	XLR	Duchenne muscular dystrophy (DMD)
DMPK	Standard	CTG	3′ UTR	5-34	35-49	≥50	AD	Myotonic dystrophy 1 (DM1)
EIF4A3	VNTR	TCGGCA...	5′ UTR	3-12	–	≥15	AR	Richieri-Costa-Pereira syndrome (RCPS)
FGF14	Standard	GAA	Intron	8-249	–	≥250	AD	Spinocerebellar ataxia 27B (SCA27B)
FMR1	Standard	CGG	5′ UTR	6-40 6-40	41-54 41-54	55-200 ≥201	XLD XLD	Fragile X tremor/ataxia syndrome (FXTAS) Fragile X Syndrome (FXS)
FOXL2	Imperfect GCN	GCN	Coding	14	–	≥19	AD	Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
FXN	Standard	GAA	Intron	5-30	–	≥70	AR	Friedreich ataxia (FRDA)
GIPC1	Standard	GGC	5′ UTR	12-32	–	≥73	AD	Oculopharyngodistal myopathy 2 (OPDM2)
GLS	Standard	GCA	5′ UTR	5-26	–	≥680	AR	Glutaminase deficiency with impaired intellectual development and progressive ataxia (GD)
HOXA13_1	Imperfect GCN	GCN	Coding	14	–	≥22	AD	Hand-foot-genital syndrome (HFG)
HOXA13_2	Imperfect GCN	GCN	Coding	12	–	≥18	AD	Hand-foot-genital syndrome (HFG)
HOXA13_3	Imperfect GCN	GCN	Coding	18	–	≥24	AD	Hand-foot-genital syndrome (HFG)
HOXD13	Imperfect GCN	GCN	Coding	15	–	≥22	AD	Synpolydactyly (SPD)
HTT	Standard	CAG	Coding	9-26	27-35	≥36	AD	Huntington's disease (HD)
JPH3	Standard	CTG	3′ UTR	6-27	–	≥41	AD	Huntington disease-like 2 (HDL2)
LRP12	Standard	CGG	5′ UTR	13-45	–	≥93	AD	Oculopharyngodistal myopathy 1 (OPDM1)
MARCHF6	Nested	TTTCA	Intron	0	–	≥668	AD	Familial adult myoclonic epilepsy 3 (FAME3)
NIPA1	Standard	GCG	5′ UTR	6-10	–	≥11	AD	Amyotrophic lateral sclerosis (ALS)
NOTCH2NLC	Standard	GGC	5′ UTR	7-39 4-41	– –	≥90 ≥60	AD AD	Neuronal intranuclear inclusion disease (NIID) Hereditary essential tremor type 6 (ETM6)
NOP56	Standard	GGCCTG	Intron	3-14	–	≥25	AD	Spinocerebellar ataxia 36 (SCA36)
NUTM2B-AS1	Standard	CGG	Noncoding transcript	3-16	–	≥700	AD	Oculopharyngeal myopathy with leukoencephalopathy 1 (OPML1)
PABPN1	Standard	GCG	Coding	6	–	≥7	AD or AR	Oculopharyngeal muscular dystrophy (OPMD)
PHOX2B	Imperfect GCN	GCN	Coding	20	–	≥24	AD	Central hypoventilation syndrome (CCHS)
PPP2R2B	Standard	CAG	5′ UTR	7-31	–	≥51	AD	Spinocerebellar ataxia 12 (SCA12)
PRNP	VNTR	CCTCAT...	Coding	5	–	≥10	AD	Creutzfeldt-Jakob Disease (CJD)
PRDM12	Standard	GCC	Coding	≤14	–	≥18	AR	Hereditary sensory and autonomic neuropathy type VIII (HSAN8)
RAPGEF2	Nested	TTTCA	Intron	0	–	≥60	AD	Familial adult myoclonic epilepsy 7 (FAME7)
RFC1	Replaced	AAGGG ...	Intron	0	–	≥400	AR	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS)
RILPL1	Standard	GGC	5′ UTR	4-20	–	≥135	AD	Oculopharyngodistal myopathy 4 (OPDM4)
RUNX2	Imperfect GCN	GCN	Coding	17	–	≥20	AD	Cleidocranial dysplasia (CCD)
SAMD12	Nested	TTTCA	Intron	0	–	≥100	AD	Familial adult myoclonic epilepsy 1 (FAME1)
SOX3	Imperfect GCN	GCN	Coding	15 15	– –	≥26 ≥22	XLR XLR	X-linked mental retardation with isolated growth hormone (XLMR) X-linked panhypopituitarism (PHPX)
STARD7	Nested	ATTTC	Intron	0	–	≥274	AD	Familial adult myoclonic epilepsy 2 (FAME2)
TBP	Standard	CAG	Coding	25-42	–	≥43	AD	Spinocerebellar ataxia 17 (SCA17)
TBX1	Imperfect GCN	GCN	Coding	15	–	≥25	AD	Tetralogy of Fallot (TOF)
TCF4	Standard	CTG	Intron	≤31	–	≥50	AD	Fuchs endothelial corneal dystrophy-3 (FECD3)
THAP11	Standard	CAG	Coding	20-38	–	≥47	AD	Spinocerebellar ataxia (SCA)
TNRC6A	Nested	TTTCA	Intron	0	–	≥1100	AD	Familial adult myoclonic epilepsy 6 (FAME6)
VWA1	VNTR	GGCGCG...	Coding	2	–	≥3	AR	Hereditary motor neuropathy (HMNR7)
XYLT1	Standard	GGC	5′ UTR	9-20	–	≥110	AR	Desbuquois dysplasia-2 (DBQD2)
YEATS2	Nested	TTTCA	Intron	0	–	≥1000	AD	Familial adult myoclonic epilepsy 4 (FAME4)
ZFHX3	Standard	GGC	Coding	14-31	–	≥42	AD	Spinocerebellar ataxia 4 (SCA4)
ZIC2	Imperfect GCN	GCN	Coding	15	–	≥25	AD	Holoprosencephaly 5 (HPE5)
ZIC3	Standard	GCC	Coding	10	–	≥12	XLR	X-linked VACTERL syndrome (VACTERLX)