UBE3A gene homepage

General information
Gene symbol UBE3A
Gene name ubiquitin protein ligase E3A
Chromosome 15
Chromosomal band q11.2
Imprinted Unknown
Genomic reference LRG_15
Transcript reference NM_000462.3
Exon/intron information NM_000462.3 exon/intron table
Associated with diseases AS, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 17
Unique public DNA variants reported 17
Individuals with public variants 17
Hidden variants 0
Date created May 03, 2013
Date last updated November 10, 2017
Version UBE3A:171110

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_000462.3.
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
HGNC 12496
Entrez Gene 7337
PubMed articles UBE3A
OMIM - Gene 601623
OMIM - Diseases AS (Angelman syndrome (AS))

Active transcripts




NCBI ID     

NCBI Protein ID     

00022268 15 transcript variant 2 NM_000462.3 NP_000453.2 17

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