STRipy - STRs database (FXN locus)

STRs database » FXN locus

Gene	FXN
Location	Intron in 9q13
Reference region	chr9:69037286-69037304 (hg38) chr9:71652202-71652220 (hg19) chr9:81210834-81210861 (hs1)
Repeat unit	GAA
Repeat type	Standard

Distribution of repeats in a superpopulation

→ View repeat distributions in gnomAD database

Overview of repeats

Friedreich ataxia (FRDA) is caused by GAA repeat expansions in intron 1 of the FXN gene, with pathogenic repeats ranges from 70 repeats to more than 1000 (most often between 600-900) (Pandolfo, 2001). In healthy individuals, the range is found to be 5-30 GAA repeats (Pandolfo, 2001).

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

Disease(s) and range of repeats

Disease	Onset	Inheritance	Normal	Intermediate	Pathogenic
Friedreich ataxia (FRDA)	Paediatric	Autosomal recessive	5-30	-	≥70

{"AFR": {"Repeats": "5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 23, 24", "Counts": "50, 85, 19, 487, 402, 56, 2, 8, 25, 32, 12, 28, 23, 15, 10, 4, 2, 1, 1"}, "AMR": {"Repeats": "5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 27, 28, 31, 32, 36", "Counts": "2, 3, 2, 144, 324, 111, 1, 3, 3, 1, 6, 3, 8, 4, 10, 4, 7, 4, 8, 4, 1, 1, 1, 1, 1"}, "EAS": {"Repeats": "6, 7, 8, 9, 10, 16, 17, 18, 20, 21", "Counts": "2, 25, 299, 471, 160, 2, 1, 1, 1, 2"}, "EUR": {"Repeats": "5, 6, 7, 8, 9, 10, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 29, 30, 40, 200, 236", "Counts": "2, 4, 1, 261, 354, 159, 4, 3, 2, 5, 6, 16, 21, 31, 24, 8, 7, 3, 5, 4, 9, 2, 1, 1, 1, 1, 1"}, "SAS": {"Repeats": "6, 7, 8, 9, 10, 11, 14, 15, 16, 17, 18, 19, 20, 21, 22, 24, 25, 28, 30, 31", "Counts": "4, 7, 362, 301, 164, 1, 1, 5, 4, 20, 19, 14, 9, 4, 1, 1, 2, 1, 1, 1"}, "All": {"Repeats": "5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 36, 40, 200, 236", "Counts": "54, 98, 54, 1553, 1852, 650, 4, 15, 31, 36, 28, 43, 68, 60, 65, 42, 23, 12, 12, 11, 6, 9, 3, 2, 1, 2, 2, 1, 1, 1, 1, 1"}}