TYW1B

tRNA-yW synthesizing protein 1 homolog B, the group of Radical S-adenosylmethionine domain containing

Basic information

Region (hg38): 7:72558744-72828200

Links

ENSG00000277149

∙ NCBI:441250 ∙ ∙ HGNC:33908 ∙ Uniprot:Q6NUM6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TYW1B gene.

not_specified (59 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TYW1B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001145440.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			57 clinvar	2 clinvar		59
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	57	3	0

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Probable component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the condensation of N- methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis (By similarity). {ECO:0000250}.;

Haploinsufficiency Scores

pHI
hipred: N
hipred_score: 0.112
ghis

Mouse Genome Informatics

Gene name: Tyw1
Phenotype

Gene ontology

Biological process: tRNA processing;oxidation-reduction process
Cellular component
Molecular function: FMN binding;metal ion binding;4 iron, 4 sulfur cluster binding;tRNA-4-demethylwyosine synthase activity