UPF3B gene homepage

General information
Gene symbol UPF3B
Gene name UPF3 regulator of nonsense transcripts homolog B (yeast)
Chromosome X
Chromosomal band q25-q26
Imprinted Unknown
Genomic reference NG_009241.1
Transcript reference NM_080632.2
Exon/intron information NM_080632.2 exon/intron table
Associated with diseases ID, MRX14
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 28
Unique public DNA variants reported 25
Individuals with public variants 18
Hidden variants 2
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project. The database was initiated associated with Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543.
Date created March 06, 2009
Date last updated August 06, 2020
Version UPF3B:200806

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_080632.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/UPF3B
External URL Orphanet
HGNC 20439
Entrez Gene 65109
PubMed articles UPF3B
OMIM - Gene 300298
OMIM - Diseases MRX14 (mental retardation, X-linked, syndromic, type 14 (MRX14))
GeneCards UPF3B
GeneTests UPF3B

Active transcripts




NCBI ID     

NCBI Protein ID     

00000199 X UPF3 regulator of nonsense transcripts homolog B (yeast), transcript variant 1 NM_080632.2 NP_542199.1 28

Copyright & disclaimer
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