STRipy - STRs database (TBP locus)

STRs database » TBP locus

Gene	TBP
Location	Coding in 6q27
Reference region	chr6:170561907-170562015 (hg38) chr6:170870995-170871103 (hg19) chr6:171935459-171935567 (hs1)
Repeat unit	CAG
Repeat type	Standard

Distribution of repeats in a superpopulation

→ View repeat distributions in gnomAD database

Overview of repeats

Research has shown that individuals who have at least 43 repeats of CAG in the coding region of the TBP gene are developing the spinocerebellar ataxia type 17 (SCA17) disease (Silveira et al., 2002). In a healthy population repeats range from 25 to 42 (Koide et al., 1999).

→ View STRipy's population-wide repeat data for TBP locus

Disease(s) and range of repeats

Disease	Onset	Inheritance	Normal	Intermediate	Pathogenic
Spinocerebellar ataxia 17 (SCA17)	Paediatric/Adult	Autosomal dominant	25-42	-	≥43

{"AFR": {"Repeats": "15, 17, 23, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40", "Counts": "2, 2, 2, 2, 1, 6, 3, 17, 112, 166, 375, 119, 107, 57, 23, 12, 5, 1"}, "AMR": {"Repeats": "15, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39", "Counts": "1, 1, 4, 1, 1, 13, 9, 8, 27, 85, 233, 119, 20, 5, 1"}, "EAS": {"Repeats": "14, 15, 17, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 41, 42, 49", "Counts": "1, 4, 1, 1, 4, 1, 5, 15, 18, 7, 26, 440, 177, 67, 24, 11, 6, 3, 1, 1"}, "EUR": {"Repeats": "26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 42", "Counts": "2, 7, 13, 2, 18, 3, 5, 49, 120, 186, 307, 41, 8, 1, 1"}, "SAS": {"Repeats": "15, 17, 24, 25, 27, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43", "Counts": "1, 1, 3, 2, 1, 6, 9, 2, 1, 42, 201, 224, 154, 51, 13, 11, 7, 2, 1, 1"}, "All": {"Repeats": "14, 15, 17, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 49", "Counts": "1, 8, 4, 2, 3, 2, 6, 17, 21, 17, 72, 144, 187, 519, 965, 927, 704, 159, 49, 24, 8, 5, 3, 1, 1"}}