USP9X Chromosome X
Ubiquitin specific peptidase 9 X-linked
Upload your DNA to see your personal genotypes for variants in USP9X.
What This Gene Does
This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ubiquitin specific peptidases|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
Xp11.4
Ensembl
ENSG00000124486
Associated Conditions (14)
Intellectual disability
X-linked 99
syndromic
female-restricted
Inborn genetic diseases
USP9X-related disorder
Developmental delay
Severe intellectual deficiency
Neurodevelopmental disorder
See cases
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
Key Variants
RS1057522024
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 99, syndromic
Health Risk
RS1195493908
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1361298317
Conflicting classifications of pathogenicity
Health Risk
RS1363096463
Conflicting classifications of pathogenicity
Health Risk
RS149866601
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 99, Intellectual disability
Health Risk
RS201128029
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 99, syndromic
Health Risk
RS201651879
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2147245804
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 99, syndromic
Health Risk
RS2519225700
Conflicting classifications of pathogenicity
Health Risk
RS2519335932
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 99, syndromic
Health Risk
RS369178019
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, X-linked 99
Health Risk
RS375537832
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 99, syndromic
Health Risk
All Variants (111)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587777318 | Health Risk | Pathogenic | Intellectual disability, X-linked 99, Intellectual disability |
| RS758083405 | Health Risk | Pathogenic | Inborn genetic diseases, USP9X-related disorder, Inborn genetic diseases |
| RS869025588 | Health Risk | Pathogenic | Intellectual disability, X-linked 99, syndromic |
| RS869025589 | Health Risk | Pathogenic | Intellectual disability, X-linked 99, syndromic |
| RS869025590 | Health Risk | Pathogenic | Intellectual disability, X-linked 99, syndromic |
| RS869025591 | Health Risk | Pathogenic | Intellectual disability, X-linked 99, syndromic |
| RS869025592 | Health Risk | Pathogenic | Intellectual disability, X-linked 99, syndromic |
| RS886041595 | Health Risk | Pathogenic | Intellectual disability, X-linked 99, syndromic |
| RS2147251154 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked 99, Intellectual disability |
| RS2519412851 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked 99, syndromic |
| RS5918118 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked 99, syndromic |