USP27X Chromosome X
Ubiquitin specific peptidase 27 X-linked
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What This Gene Does
This gene encodes a member of the peptidase protein family. The encoded protein functions as a deubiquitinase that is involved in upregulation of the pro-apoptotic Bim protein. This protein may act as a tumor suppressor by increasing levels of Bim to counteract anti-apoptotic signals in cancer cells. Mutations in this gene have been associated with X-linked cognitive disability. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
Ubiquitin specific peptidases
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000273820
Associated Conditions (4)
Inborn genetic diseases
Intellectual disability
X-linked 105
Neurodevelopmental disorder
Key Variants
RS782459304
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2519166848
Likely pathogenic
Health Risk
RS2519167013
Likely pathogenic
Intellectual disability, X-linked 105, Intellectual disability
Health Risk
RS2519167465
Likely pathogenic
Intellectual disability, X-linked 105, Intellectual disability
Health Risk
RS2519167480
Likely pathogenic
Intellectual disability, X-linked 105, Intellectual disability
Health Risk
RS2519167657
Likely pathogenic
Intellectual disability, X-linked 105, Intellectual disability
Health Risk
RS1601932069
Pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS886038210
Pathogenic
Intellectual disability, X-linked 105, Intellectual disability
Health Risk
RS886038211
Pathogenic
Intellectual disability, X-linked 105, Intellectual disability
Health Risk
RS2147224405
Pathogenic/Likely pathogenic
Neurodevelopmental disorder, Intellectual disability, X-linked 105
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS782459304 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2519166848 | Health Risk | Likely pathogenic | — |
| RS2519167013 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 105, Intellectual disability |
| RS2519167465 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 105, Intellectual disability |
| RS2519167480 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 105, Intellectual disability |
| RS2519167657 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 105, Intellectual disability |
| RS1601932069 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS886038210 | Health Risk | Pathogenic | Intellectual disability, X-linked 105, Intellectual disability |
| RS886038211 | Health Risk | Pathogenic | Intellectual disability, X-linked 105, Intellectual disability |
| RS2147224405 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Intellectual disability, X-linked 105 |