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
ClinGen Curation ID:
CCID:008047
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)