TRMT10A

  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TRMT10A (HGNC:28403) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
tRNA methyltransferase 10A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
RG9MTD2
Alias symbols
MGC27034, TRM10
%HI
53.48(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.18(Read more about gnomAD LOEUF score)
Cytoband
4q23
Genomic Coordinates
GRCh37/hg19: chr4:100467868-100485196 NCBI Ensembl UCSC
GRCh38/hg38: chr4:99546711-99564039 NCBI Ensembl UCSC
MANE Select Transcript
NM_001134665.3 ENST00000394876.7 (Read more about MANE Select)
Function
S-adenosyl-L-methionine-dependent guanine N(1)- methyltransferase that catalyzes the formation of N(1)-methylguanine at position 9 (m1G9) in tRNAs (PubMed:23042678, PubMed:25053765). Probably not able to catalyze formation of N(1)-methyladenine at position 9 (m1A9) in tRNAs (PubMed:23042678). {ECO:0000269|PubMed:23042678, ECO:0000269|PubMed:25053765}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12953
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • microcephaly, short stature, and impaired glucose metabolism 1 Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)