USB1 gene homepage

General information
Gene symbol USB1
Gene name U6 snRNA biogenesis 1
Chromosome 16
Chromosomal band q13
Imprinted Unknown
Genomic reference LRG_352
Transcript reference NM_024598.3
Exon/intron information NM_024598.3 exon/intron table
Associated with diseases PN
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Elisa Adele Colombo and Ludovica Volpi
Total number of public variants reported 38
Unique public DNA variants reported 20
Individuals with public variants 32
Hidden variants 0
Download all this gene's data Download all data
Notes alias c16orf57
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created November 24, 2010
Date last updated December 06, 2016
Version USB1:161206

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_024598.3.
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
External URL Orphanet
HGNC 25792
Entrez Gene 79650
PubMed articles USB1
OMIM - Gene 613276
OMIM - Diseases PN (poikiloderma, with neutropenia (PN))
GeneCards USB1
GeneTests USB1

Active transcripts




NCBI ID     

NCBI Protein ID     

00023902 16 transcript variant 1 NM_024598.3 NP_078874.2 38

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.