The EXOSC3 gene homepage

General information
Gene symbol EXOSC3
Gene name exosome component 3
Chromosome 9
Chromosomal band p11
Imprinted Unknown
Genomic reference NG_032780.1
Transcript reference NM_016042.3
Exon/intron information NM_016042.3 exon/intron table
Associated with diseases PCH1B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 48
Unique public DNA variants reported 19
Individuals with public variants 28
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created May 31, 2012
Date last updated February 26, 2024
Version EXOSC3:240226

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_016042.3.
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 https://www.LOVD.nl/EXOSC3
HGNC 17944
Entrez Gene 51010
PubMed articles EXOSC3
OMIM - Gene 606489
OMIM - Diseases PCH1B (hypoplasia, pontocerebellar, type 1b (PCH-1B))
HGMD EXOSC3
GeneCards EXOSC3
GeneTests EXOSC3
Orphanet EXOSC3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007311 9 transcript variant 1 NM_016042.3 NP_057126.2 48


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