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THADA |
Gene Facts External Data Attribution
- HGNC Symbol
- THADA (HGNC:19217) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- THADA armadillo repeat containing
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FLJ21877, KIAA1767, GITA, ARMC13, Trm732
- %HI
- 33.79(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
- 2p21
- Genomic Coordinates
-
GRCh37/hg19: chr2:43457990-43823177 NCBI Ensembl UCSC GRCh38/hg38: chr2:43230851-43596038 NCBI Ensembl UCSC - MANE Select Transcript
- NM_022065.5 ENST00000405975.7 (Read more about MANE Select)
- Function
- Together with methyltransferase FTSJ1, methylates the 2'-O- ribose of nucleotides at position 32 of the anticodon loop of substrate tRNAs. {ECO:0000269|PubMed:25404562}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-23354
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)
