FTSJ1 Chromosome X
FtsJ RNA 2'-O-methyltransferase 1
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What This Gene Does
This gene encodes a member of the methyltransferase superfamily. The encoded protein localizes to the nucleolus, binds to S-adenosylmethionine, and may be involved in the processing and modification of ribosomal RNA. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
"7BS 2'O-ribose DNA/RNA methyltransferases|DNA/RNA methyltransferases"
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000068438
Associated Conditions (4)
Sotos syndrome
Inborn genetic diseases
Intellectual disability
X-linked 9
Key Variants
RS143734567
Conflicting classifications of pathogenicity
Health Risk
RS148812911
Conflicting classifications of pathogenicity
Sotos syndrome, Sotos syndrome
Health Risk
RS200713075
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1556967227
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1569474795
Likely pathogenic
Health Risk
RS1602048728
Pathogenic
Intellectual disability, X-linked 9, Intellectual disability
Health Risk
RS1602048836
Pathogenic
Intellectual disability, X-linked 9, Intellectual disability
Health Risk
RS2061548936
Pathogenic
Intellectual disability, X-linked 9, Intellectual disability
Health Risk
RS2061565957
Pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS2147089633
Pathogenic
Health Risk
RS2519380502
Pathogenic
Intellectual disability, X-linked 9, Intellectual disability
Health Risk
RS2519382131
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143734567 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148812911 | Health Risk | Conflicting classifications of pathogenicity | Sotos syndrome, Sotos syndrome |
| RS200713075 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1556967227 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1569474795 | Health Risk | Likely pathogenic | — |
| RS1602048728 | Health Risk | Pathogenic | Intellectual disability, X-linked 9, Intellectual disability |
| RS1602048836 | Health Risk | Pathogenic | Intellectual disability, X-linked 9, Intellectual disability |
| RS2061548936 | Health Risk | Pathogenic | Intellectual disability, X-linked 9, Intellectual disability |
| RS2061565957 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2147089633 | Health Risk | Pathogenic | — |
| RS2519380502 | Health Risk | Pathogenic | Intellectual disability, X-linked 9, Intellectual disability |
| RS2519382131 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519384720 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2519393316 | Health Risk | Pathogenic | Intellectual disability, X-linked 9, Intellectual disability |
| RS797044864 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |