FTSJ1 |
- 2
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- FTSJ1 (HGNC:13254) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- FtsJ RNA 2'-O-methyltransferase 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MRX9, MRX44
- Alias symbols
- JM23, CDLIV, SPB1, TRM7, TRMT7
- %HI
- 52.75(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.99(Read more about gnomAD pLI score)
- LOEUF
- 0.2(Read more about gnomAD LOEUF score)
- Cytoband
- Xp11.23
- Genomic Coordinates
-
GRCh37/hg19: chrX:48334409-48344752 NCBI Ensembl UCSC GRCh38/hg38: chrX:48476021-48486364 NCBI Ensembl UCSC - MANE Select Transcript
- NM_012280.4 ENST00000348411.3 (Read more about MANE Select)
- Function
- Methylates the 2'-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs (PubMed:25404562, PubMed:32558197, PubMed:32198346, PubMed:33771871, PubMed:26310293, PubMed:36720500). Requisite for faithful cytoplasmic translation (PubMed:32393790). Requires THADA for methylation of the nucleotide at position 32 of the anticodon loop of substrate tRNAs (PubMed:26310293, PubMed:25404562). Requires WDR6 for methylation of the nucleotide at position 34 of the anticodo... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- non-syndromic X-linked intellectual disability Monarch
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PUBMED:
15162322
Freude et al., (2004) screened 244 unrelated individuals with putative X-linked intellectual disability (XLID) and identified variants in FTSJ1 in 3 of these individuals. The variants identified were a single-nucleotide substitution resulting in a splice defect with in-frame loss of exon 9, a nonsense variant, and a single nucleotide deletion removing the invariant G of the splice donor sequence. All variants were inherited from asymptomatic mothers and showed segregation in the families among affected male relatives.
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PUBMED:
15342698
Ramser et al., (2004) sequenced an 11.3 Mb linkage interval in a large Belgian family with non-syndromic XLID and identified a splice acceptor site (IVS3-2A>G) in all affected individuals and carrier females. The variant was absent in all unaffected male family members. The variant results in the skipping of exon 4 and introduces a premature stop codon in exon 5.
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PUBMED:
18081026
Takano et al., (2008) screen 73 unrelated Japanese males with intellectual disability and identified a splice site variant of FTSJ1 in one affected individual and his unaffected mother. The variant results in the failure to remove intron 8 leading to a premature stop codon in exon 9.
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PUBMED:
31170314
Routier et al., 2019 reported a maternally inherited, predicted null splicing variant from a myotonic-atonic epilepsy cohort in a 9yo male who also presented with autism. Maternal phenotype information was not provided.
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PUBMED:
31981491
Satterstrom et al., 2020 reported a male with autism spectrum disorder with a predicted null variant found via exome sequencing in cohort of individuals with autism, inheritance was unknown..
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PUBMED:
36720500
Brazane et al., 2023 reported a male identified to have a de novo pathogenic splicing variant leading to a frameshift and a premature stop codon. The patient presented with with mild ID, facial dysmorphia (hypertelorism, pointed chin, ears turned back), speech delay, attention disorders, and behavioral problems.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.